4,071 results match your criteria Peroxisomal Disorders


PPAR-γ agonist GL516 reduces oxidative stress and apoptosis occurrence in a rat astrocyte cell line.

Neurochem Int 2019 Jun 1;126:239-245. Epub 2019 Apr 1.

Department of Pharmacy, University G. d'Annunzio, Chieti-Pescara, via dei Vestini 31, Chieti Scalo, Italy.

Aims: The worldwide increase in aging population is prevalently associated with the increase of neurodegenerative diseases. Peroxisome Proliferator-Activated Receptors (PPARs) are ligand-modulated transcriptional factors which belong to the nuclear hormone receptor superfamily which regulates peroxisome proliferation. The PPAR-γ is the most extensively studied among the three isoforms and the neuroprotective effects of PPAR-γ agonists have been recently demonstrated in a variety of preclinical models of neurological disorders. Read More

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http://dx.doi.org/10.1016/j.neuint.2019.03.021DOI Listing
June 2019
1 Read

Thermogenic flux induced by lignoceric acid in peroxisomes isolated from HepG2 cells and from X-adrenoleukodystrophy and control fibroblasts.

J Cell Physiol 2019 Apr 1. Epub 2019 Apr 1.

Department of Food, Enviromental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy.

This work analyzes the thermogenic flux induced by the very long-chain fatty acid (VLCFA) lignoceric acid (C24:0) in isolated peroxisomes. Specific metabolic alterations of peroxisomes are related to a variety of disorders, the most frequent one being the neurodegenerative inherited disease X-linked adrenoleukodystrophy (X-ALD). A peroxisomal transport protein is mutated in this disorder. Read More

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http://dx.doi.org/10.1002/jcp.28467DOI Listing
April 2019
2 Reads

Chondrodysplasia Punctata: A Clue to the Zellweger Spectrum Disorders.

Authors:
Nigel S Bamford

Pediatr Neurol 2019 Feb 2. Epub 2019 Feb 2.

Departments of Pediatrics, Neurology, Cellular and Molecular Physiology, Yale University, New Haven, Connecticut. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.01.013DOI Listing
February 2019

Microglia lacking a peroxisomal β-oxidation enzyme chronically alter their inflammatory profile without evoking neuronal and behavioral deficits.

J Neuroinflammation 2019 Mar 13;16(1):61. Epub 2019 Mar 13.

Department of Pharmaceutical and Pharmacological Sciences, Laboratory for Cell Metabolism, KU Leuven - University of Leuven, Campus Gasthuisberg O/N2, Herestraat 49, B-3000, Leuven, Belgium.

Background: Microglia play a central role in most neurological disorders, but the impact of microgliosis on brain environment and clinical functions is not fully understood. Mice lacking multifunctional protein-2 (MFP2), a pivotal enzyme in peroxisomal β-oxidation, develop a fatal disorder characterized by motor problems similar to the milder form of MFP2 deficiency in humans. The hallmark of disease in mice is the chronic proliferation of microglia in the brain, but molecular pathomechanisms that drive rapid clinical deterioration in human and mice remain unknown. Read More

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http://dx.doi.org/10.1186/s12974-019-1442-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417251PMC
March 2019
2 Reads

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

Cold Spring Harb Mol Case Stud 2019 Mar 8. Epub 2019 Mar 8.

Baylor College of Medicine

DNM1L encodes a GTPase of the dynamin superfamily which plays a crucial role in mitochondrial and peroxisomal fission. Pathogenic variants affecting the middle domain and the GTPase domain of DNM1L have been implicated in encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1, MIM #614388). Patients show variable phenotypes ranging from severe hypotonia leading to death in the neonatal period to developmental delay/regression, with or without seizures. Read More

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http://dx.doi.org/10.1101/mcs.a003673DOI Listing

Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study.

Mol Genet Metab Rep 2019 Jun 14;19:100459. Epub 2019 Feb 14.

Department of Pediatrics, University of Nebraska Medical Center, University of Nebraska, 985940 Nebraska Medical Center - DRC II 4064, Omaha, NE 68198-5940, USA.

Zellweger spectrum disorders (ZSDs) are rare, debilitating genetic diseases of peroxisome biogenesis that require constant management and lifelong care. Nevertheless, the experience of family caregivers for children diagnosed with ZSD is not well understood. In this study, we sought to characterize the emotional experience of ZSD family caregivers. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2019.100459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377409PMC
June 2019
2 Reads

Peroxisomal dysfunction in neurodegenerative diseases.

Arch Pharm Res 2019 Feb 9. Epub 2019 Feb 9.

School of Life Sciences, Kyungpook National University, 80 Daehakro Bukgu, Daegu, 41566, Republic of Korea.

Peroxisomes and their (patho-)physiological importance in heath and disease have attracted increasing interest during last few decades. Together with mitochondria, peroxisomes comprise key metabolic platforms for oxidation of various fatty acids and redox regulation. In addition, peroxisomes contribute to bile acid, cholesterol, and plasmalogen biosynthesis. Read More

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http://link.springer.com/10.1007/s12272-019-01131-2
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http://dx.doi.org/10.1007/s12272-019-01131-2DOI Listing
February 2019
5 Reads

Disease progression in women with X-linked adrenoleukodystrophy is slow.

Orphanet J Rare Dis 2019 02 7;14(1):30. Epub 2019 Feb 7.

Department of Pediatric Neurology/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Background: Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only. For future clinical trials quantitative data on disease progression rates are essential. Moreover, diagnosis can be challenging in ALD women, as the most important diagnostic biomarker is normal in 15-20%. Read More

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http://dx.doi.org/10.1186/s13023-019-1008-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367840PMC
February 2019

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome - PFAPA syndrome.

Authors:
Per Wekell

Presse Med 2019 Feb 22;48(1 Pt 2):e77-e87. Epub 2019 Jan 22.

Department of Pediatrics, NU-Hospital Group, 45180 Uddevalla, Sweden; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. Electronic address:

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is a complex autoinflammatory disease with a clinical phenotype characterised by recurrent episodes of fever, systemic inflammation and symptoms and signs depicted in disease acronym. Although PFAPA is the most common autoinflammatory disease among children in many parts of the world, the condition is still an enigma, which include the regular episodes, the prompt responses to corticosteroids, the genetic bases for the familial clustering and therapeutic effects of tonsillectomy. This review explores PFAPA syndrome with the aim of describing the current clinical and scientific understanding of the condition. Read More

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http://dx.doi.org/10.1016/j.lpm.2018.08.016DOI Listing
February 2019
2 Reads

Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment.

Brain Pathol 2019 Jan 22. Epub 2019 Jan 22.

Neurolipid Biology, Instituto de Investigação e Inovação em Saúde - i3S, Instituto de Biologia Molecular e Celular - IBMC e Universidade do Porto, Porto, Portugal.

Plasmalogens are the most abundant form of ether phospholipids in myelin and their deficiency causes Rhizomelic Chondrodysplasia Punctata (RCDP), a severe developmental disorder. Using the Gnpat-knockout (KO) mouse as a model of RCDP, we determined the consequences of a plasmalogen deficiency during myelination and myelin homeostasis in the central nervous system (CNS). We unraveled that the lack of plasmalogens causes a generalized hypomyelination in several CNS regions including the optic nerve, corpus callosum and spinal cord. Read More

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http://dx.doi.org/10.1111/bpa.12710DOI Listing
January 2019
1 Read

Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance.

Neuromuscul Disord 2019 Feb 22;29(2):146-149. Epub 2018 Nov 22.

Department of Neurology, Mayo Clinic, 200 First St. SW, Rochester, MN 55905, USA.

X-linked adrenoleukodystrophy is a peroxisomal disorder caused by a mutation in ABCD1 gene. The three main phenotypes of X-linked adrenoleukodystrophy include cerebral adrenoleukodystrophy, adrenomyeloneuropathy, and isolated primary adrenal insufficiency. More than 750 non-recurrent mutations exist throughout the coding region of the ABCD1 gene. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.11.007DOI Listing
February 2019
12 Reads

[Peroxisomal disorders].

Postepy Biochem 2018 Dec;64(4):359-367

Zakład Biochemii i Medycyny Doświadczalnej, Instytut "Pomnik-Centrum Zdrowia Dziecka".

Peroxisomes are multifunctional microorganelles that play a key role in numerous biochemical processes adapting dynamically to the current physiological requirements of the cell. The disturbance of the peroxisome structure due to mutations in different PEX and non-PEX genes coding functional peroxisomal proteins is the pathogenic basis of the peroxisomal disorders. The β-oxidation process of very long-chain fatty acids (VLCFA) is a unique metabolic pathway located exclusively in the peroxisome. Read More

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http://dx.doi.org/10.18388/pb.2018_150DOI Listing
December 2018
8 Reads

Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders.

Clin Neurol Neurosurg 2019 Feb 7;177:92-96. Epub 2019 Jan 7.

Department of Neurology and Institute of Neurology, Rui Jin Hospital & Rui Jin Hospital North, Shanghai Jiao Tong University School of Medicine, 200025, China. Electronic address:

Objectives: To describe the clinical and genetic features of a Chinese peroxisome biogenesis disorder 6B patient with PEX10 mutations and review PEX10-related peroxisomal disorders.

Patients And Methods: The proband is a 7-year-old boy with mild mental retardation and gait instability, intention tremor and nystagmus. An extensive clinical and laboratory evaluation including molecular genetic studies was performed. Read More

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http://dx.doi.org/10.1016/j.clineuro.2019.01.004DOI Listing
February 2019
3 Reads
1.248 Impact Factor

Differential distribution of peroxisomal proteins points to specific roles of peroxisomes in the murine retina.

Mol Cell Biochem 2019 Jan 2. Epub 2019 Jan 2.

Department of Pharmaceutical and Pharmacological Sciences, Cell Metabolism, KU Leuven -University of Leuven, 3000, Leuven, Belgium.

The retinal pathology in peroxisomal disorders suggests that peroxisomes are important to maintain retinal homeostasis and function. These ubiquitous cell organelles are mainly involved in lipid metabolism, which comprises α- and β-oxidation and ether lipid synthesis. Although peroxisomes were extensively studied in liver, their role in the retina still remains to be elucidated. Read More

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http://dx.doi.org/10.1007/s11010-018-3489-3DOI Listing
January 2019
3 Reads

Clinical and Biochemical Features in a Patient With Gene Alteration.

Front Genet 2018 7;9:625. Epub 2018 Dec 7.

Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.

Mitochondrial Fission Factor (MFF) is part of a protein complex that promotes mitochondria and peroxisome fission. Hitherto, only 5 patients have been reported harboring mutations in , all of them with the clinical features of a very early onset Leigh-like encephalopathy. We report on an 11-year-old boy with epileptic encephalopathy. Read More

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http://dx.doi.org/10.3389/fgene.2018.00625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292958PMC
December 2018
1 Read

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Clin Genet 2019 Feb 18;95(2):310-319. Epub 2018 Dec 18.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families) of clinically, biochemically and molecularly characterized patients with peroxisomal disorders. At the molecular level, we identified 43 disease-causing variants, half of which are novel. Read More

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http://doi.wiley.com/10.1111/cge.13481
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http://dx.doi.org/10.1111/cge.13481DOI Listing
February 2019
7 Reads
3.931 Impact Factor

Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy.

Medicine (Baltimore) 2018 Dec;97(49):e13353

Department of Clinical Biochemistry, Jagiellonian University Medical College, Krakow, Poland.

Rationale: X-linked adrenoleukodystrophy (X-ALD) is a rare disorder caused by mutations in the ABCD1 gene, coding for peroxisomal membrane transporter adrenoleukodystrophy (ALD) protein. The disease is characterized by accumulation of very long chain fatty acids (VLCFAs) in tissues. Adult adrenomyeloneuropathy (AMN) and the cerebral inflammatory form of ALD are the main phenotypes presenting various symptoms. Read More

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http://dx.doi.org/10.1097/MD.0000000000013353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310492PMC
December 2018
2 Reads

Peroxisome biogenesis deficiency attenuates the BDNF-TrkB pathway-mediated development of the cerebellum.

Life Sci Alliance 2018 Dec 3;1(6):e201800062. Epub 2018 Dec 3.

Division of Organelle Homeostasis, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.

Peroxisome biogenesis disorders (PBDs) manifest as neurological deficits in the central nervous system, including neuronal migration defects and abnormal cerebellum development. However, the mechanisms underlying pathogenesis remain enigmatic. Here, to investigate how peroxisome deficiency causes neurological defects of PBDs, we established a new PBD model mouse defective in peroxisome assembly factor Pex14p, termed mouse. Read More

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http://dx.doi.org/10.26508/lsa.201800062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277683PMC
December 2018
18 Reads

Long-Term Cholic Acid Treatment in a Patient with Zellweger Spectrum Disorder.

Case Rep Gastroenterol 2018 Sep-Dec;12(3):661-670. Epub 2018 Nov 21.

Division of Pediatric Gastroenterology, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.

Zellweger spectrum disorders (ZSDs) are a subgroup of peroxisomal biogenesis disorders with a generalized defect in peroxisome function. Liver disease in ZSDs has been associated with the lack of peroxisomal β-oxidation of C-bile acid intermediates to form primary C-bile acids, which prevents normal physiologic feedback and leads to accumulation of hepatotoxic bile acid intermediates. Primary bile acid therapy, oral cholic acid (CA), as adjunctive treatment for ZSDs, restores physiologic feedback inhibition on bile acid synthesis and inhibits formation of hepatotoxic bile acid intermediates. Read More

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https://www.karger.com/Article/FullText/494555
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http://dx.doi.org/10.1159/000494555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276768PMC
November 2018
25 Reads

Gene therapy for lysosomal storage diseases and peroxisomal diseases.

Authors:
Toya Ohashi

J Hum Genet 2019 Feb 29;64(2):139-143. Epub 2018 Nov 29.

Division of Gene Therapy, Research Center for Medical Sciences/Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.

Gene therapies for lysosomal storage diseases (LSD) and peroxisomal diseases (PD) are rapidly advancing. Most LSDs and PDs are characterized by brain involvement, prompting the development of therapies targeting the brain. There are two types of gene therapy for brain involvement in LSD and PD, i. Read More

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http://www.nature.com/articles/s10038-018-0537-5
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http://dx.doi.org/10.1038/s10038-018-0537-5DOI Listing
February 2019
2 Reads

Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms.

Clin Exp Rheumatol 2018 Nov-Dec;36(6 Suppl 115):86-89. Epub 2018 Nov 9.

Department of Pathophysiology, National and Kapodistrian University of Athens, Faculty of Medicine, Athens, Greece.

Objectives: Autoinflammatory diseases are characterised by abnormal hyperactivity of the innate immune system, causing systemic inflammation. The cryopyrin associated periodic syndrome (CAPS), the hyper IgD syndrome (HIDS) and the TNF receptor-associated periodic syndrome (TRAPS), are autoinflammatory conditions associated with mutations in the NLRP3, MVK and TNFRSF1A genes, respectively. We present the experience of our Department with these rare syndromes analysing genetic and clinical data of adult patients encountered between January 2011 and September 2017. Read More

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March 2019
9 Reads

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic.

Orphanet J Rare Dis 2018 11 3;13(1):194. Epub 2018 Nov 3.

Center for Neurology, and Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.

Objective: High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneuropathy (AMN) by HRUS.

Methods: Thirteen adults with genetically proven AMN were examined using the Ultrasound pattern sum score (UPSS) to evaluate morphological abnormalities of peripheral nerves, vagal nerves, as well as cervical nerve roots. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0939-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215661PMC
November 2018
13 Reads

Peroxisomes and Cellular Oxidant/Antioxidant Balance: Protein Redox Modifications and Impact on Inter-organelle Communication.

Subcell Biochem 2018;89:435-461

Department of Cellular and Molecular Medicine, KU Leuven, Herestraat 49, Box 601, 3000, Louvain, Belgium.

Disturbances in cellular redox balance have been associated with pro-aging mechanisms and increased risk for various chronic disease states. Multiple lines of evidence indicate that peroxisomes are central players in cellular redox metabolism. Nevertheless, the potential role of this organelle as intracellular redox signaling platform has been largely overlooked for a long time. Read More

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http://link.springer.com/10.1007/978-981-13-2233-4_19
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http://dx.doi.org/10.1007/978-981-13-2233-4_19DOI Listing
January 2018
8 Reads

Defining the Mammalian Peroxisomal Proteome.

Subcell Biochem 2018;89:47-66

Faculty of Biology and BIOSS Centre for Biological Signaling Studies, Biochemistry and Functional Proteomics, Institute for Biology II, University of Freiburg, 79104, Freiburg, Germany.

The current view on peroxisomes has changed dramatically from being human cell oddities to vital organelles that host several key metabolic pathways. To fulfil over 50 different enzymatic functions, human peroxisomes host either unique peroxisomal proteins or dual-localized proteins. The identification and characterization of the complete peroxisomal proteome in humans is important for diagnosis and treatment of patients with peroxisomal disorders as well as for uncovering novel peroxisomal functions and regulatory modules. Read More

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http://link.springer.com/10.1007/978-981-13-2233-4_2
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http://dx.doi.org/10.1007/978-981-13-2233-4_2DOI Listing
January 2018
1 Read

Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.

Biochim Biophys Acta Mol Cell Res 2019 Mar 23;1866(3):518-531. Epub 2018 Oct 23.

University Children's Research@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

Peroxisomal biogenesis factor PEX26 is a membrane anchor for the multi-subunit PEX1-PEX6 protein complex that controls ubiquitination and dislocation of PEX5 cargo receptors for peroxisomal matrix protein import. PEX26 associates with the peroxisomal translocation pore via PEX14 and a splice variant (PEX26Δex5) of unknown function has been reported. Here, we demonstrate PEX26 homooligomerization mediated by two heptad repeat domains adjacent to the transmembrane domain. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01674889183047
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http://dx.doi.org/10.1016/j.bbamcr.2018.10.013DOI Listing
March 2019
19 Reads

Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids.

J Cell Biochem 2019 Mar 26;120(3):3243-3258. Epub 2018 Oct 26.

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

Zellweger spectrum disorder (ZSD) results from biallelic mutations in PEX genes required for peroxisome biogenesis. PEX1-G843D is a common hypomorphic allele in the patient population that is associated with milder disease. In prior work using a PEX1-G843D/null patient fibroblast line expressing a green fluorescent protein (GFP) reporter with a peroxisome-targeting signal (GFP-PTS1), we demonstrated that treatments with the chemical chaperone betaine and flavonoid acacetin diacetate recovered peroxisome functions. Read More

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http://doi.wiley.com/10.1002/jcb.27591
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http://dx.doi.org/10.1002/jcb.27591DOI Listing
March 2019
31 Reads

Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD).

BMJ Case Rep 2018 Oct 12;2018. Epub 2018 Oct 12.

Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Chondrodysplasia punctate (CDP) is a rare group of disorders with both genetic and non-genetic underlying aetiologies. The genetic causes associated with CDP include peroxisomal disorders, type two mucolipidosis, type 3 mucopolysaccharidosis, GM1 gangliosidosis and chromosomal disorders. Peroxisomal disorders include deficiency of dihydroxyacetone phosphate acyltransferase, encoded by GNPAT, deficiency of the peroxisomal enzyme alkyl-dihydroxyacetone phosphate synthase, encoded by AGPS and Zellweger syndrome. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2017-22337
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http://dx.doi.org/10.1136/bcr-2017-223373DOI Listing
October 2018
17 Reads

Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.

Orphanet J Rare Dis 2018 10 11;13(1):179. Epub 2018 Oct 11.

School of Health and Related Research, The University of Sheffield, Regent Court, 30 Regent Street, Sheffield, S1 4DA, UK.

Background: A decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukodystrophy (X-ALD) into an existing tandem mass spectrometry based newborn screening programme. The model was based upon the UK National Health Service (NHS) Newborn Blood Spot Screening Programme and a public service perspective was used with a lifetime horizon. The model structure and parameterisation were based upon literature reviews and expert clinical judgment. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0921-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182830PMC
October 2018
5 Reads

Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.

J Biochem 2019 Jan;165(1):67-73

Biochemical Genetics, Sandor Life Sciences Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad, India.

We have established diagnostic thresholds of very long-chain fatty acids (VLCFA) for the differential diagnosis of peroxisomal disorders using the machine learning tools. The plasma samples of 131 controls and 90 cases were tested for VLCFA using gas chromatography-mass spectrometry following stable isotope dilution. These data were used to construct association rules and for recursive partitioning. Read More

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/jb/mvy085DOI Listing
January 2019
6 Reads

[The importance of semiology and biochemistry in the diagnostic management of a peroxisomal biogenesis disorder].

Rev Neurol 2018 Oct;67(8):298-302

Instituto de Ortopedia Infantil Roosevelt, Bogota DC, Colombia.

Introduction: Peroxisomal biogenesis disorders are due to mutations in the PEX genes, which code for peroxins that are required for peroxisomal biogenesis. Clinically, they are expressed as a Zellweger syndrome spectrum, and there is a wide phenotypic variety. They are diagnosed biochemically, and confirmation is molecular. Read More

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October 2018
3 Reads

Yeast peroxisomes: How are they formed and how do they grow?

Int J Biochem Cell Biol 2018 Dec 27;105:24-34. Epub 2018 Sep 27.

Molecular Cell Biology, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, the Netherlands. Electronic address:

Peroxisomes are single membrane enclosed cell organelles, which are present in almost all eukaryotic cells. In addition to the common peroxisomal pathways such as β-oxidation of fatty acids and decomposition of HO, these organelles fulfil a range of metabolic and non-metabolic functions. Peroxisomes are very important since various human disorders exist that are caused by a defect in peroxisome function. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S13572725183021
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http://dx.doi.org/10.1016/j.biocel.2018.09.019DOI Listing
December 2018
29 Reads

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia.

Hum Mol Genet 2019 01;28(1):143-154

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

Glucose-6-phosphatase α (G6Pase) deficiency, also known as von Gierke's Disease or Glycogen storage disease type Ia (GSD Ia), is characterized by decreased ability of the liver to convert glucose-6-phosphate to glucose leading to glycogen accumulation and hepatosteatosis. Long-term complications of GSD Ia include hepatic adenomas and carcinomas, in association with the suppression of autophagy in the liver. The G6pc-/- mouse and canine models for GSD Ia were treated with the pan-peroxisomal proliferator-activated receptor agonist, bezafibrate, to determine the drug's effect on liver metabolism and function. Read More

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddy343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298237PMC
January 2019
30 Reads

Pexophagy in yeast and mammals: an update on mysteries.

Histochem Cell Biol 2018 Nov 21;150(5):473-488. Epub 2018 Sep 21.

Institute of Molecular Health Sciences, ETH Zurich, Otto-Stern-Weg 7, HPL H16, 8093, Zurich, Switzerland.

Peroxisomes are ubiquitous and highly dynamic organelles that play a central role in the metabolism of lipids and reactive oxygen species. The importance of peroxisomal metabolism is illustrated by severe peroxisome biogenesis disorders in which functional peroxisomes are absent or disorders caused by single peroxisomal enzyme deficiencies. These multisystemic diseases manifest specific clinical and biochemical disturbances that originate from the affected peroxisomal pathways. Read More

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http://link.springer.com/10.1007/s00418-018-1724-3
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http://dx.doi.org/10.1007/s00418-018-1724-3DOI Listing
November 2018
16 Reads

Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan.

J Hum Genet 2019 Feb 20;64(2):145-152. Epub 2018 Sep 20.

Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan.

The concept of peroxisomal diseases is expanding because of improvements in diagnostic technology based on advanced biochemical analysis and development of next-generation sequencing. For quicker and more accurate diagnosis of as many patients as possible, we developed a new diagnostic system combining the conventional diagnostic system and comprehensive mutational analysis by whole-exome sequencing in Japan. Adrenoleukodystrophy (ALD) is the most common peroxisomal disease. Read More

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http://www.nature.com/articles/s10038-018-0512-1
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http://dx.doi.org/10.1038/s10038-018-0512-1DOI Listing
February 2019
3 Reads

A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma.

Saudi J Ophthalmol 2018 Jul-Sep;32(3):241-245. Epub 2017 Sep 23.

King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Peroxisomal biogenesis disorders (PBDs) are autosomal recessive diseases caused by mutations in one of the 14 PEX genes described in the scientific literature. All of these syndromes may be associated with different mutations in the PEX genes, the most frequent being PEX1 for patients with Zellweger syndrome (ZS). In this paper, we present the case of a patient with a peculiar clinical history: evisceration of the left eye (LE) at 4 years of age because of a benign ocular teratoid medulloepithelioma and a progressive loss of visual acuity (VA) in the right eye (RE) beginning at 9 years of age, leading to the diagnosis of ZS. Read More

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http://dx.doi.org/10.1016/j.sjopt.2017.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137698PMC
September 2017

The peroxisome: an update on mysteries 2.0.

Histochem Cell Biol 2018 Nov 15;150(5):443-471. Epub 2018 Sep 15.

Biosciences, University of Exeter, Exeter, EX4 4QD, UK.

Peroxisomes are key metabolic organelles, which contribute to cellular lipid metabolism, e.g. the β-oxidation of fatty acids and the synthesis of myelin sheath lipids, as well as cellular redox balance. Read More

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http://link.springer.com/10.1007/s00418-018-1722-5
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http://dx.doi.org/10.1007/s00418-018-1722-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182659PMC
November 2018
20 Reads

The patient journey to diagnosis and treatment of autoinflammatory diseases.

Orphanet J Rare Dis 2018 09 6;13(1):156. Epub 2018 Sep 6.

Autoinflammatory Alliance, San Francisco, CA, USA.

Background: Limited data are available on the experiences of patients with autoinflammatory diseases (AIDs) and their families along the path to diagnosis and treatment. We sought to describe these experiences in patients with AIDs including tumor necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS), and familial Mediterranean fever (FMF).

Methods: Ninety-minute, semi-structured qualitative interviews and 5-day written/video diaries were used to gather information on the experiences of patients with AIDs and their families. Read More

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http://dx.doi.org/10.1186/s13023-018-0902-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127942PMC
September 2018
25 Reads

Hyper-IgD syndrome in a patient with IgA immunodeficiency.

Clin Exp Rheumatol 2018 Sep-Oct;36(5):934. Epub 2018 Jul 19.

Institute of Infection, Immunity and Inflammation, University of Glasgow, UK; and Rheumatology Department, Army Shared Fund "NIMTS" Hospital, Athens, Greece.

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January 2019
10 Reads

Dysregulation of the NUDT7-PGAM1 axis is responsible for chondrocyte death during osteoarthritis pathogenesis.

Nat Commun 2018 08 24;9(1):3427. Epub 2018 Aug 24.

Department of Biological Sciences, College of Natural Sciences, Wonkwang University, Iksan, Chunbuk, 54538, Republic of Korea.

Osteoarthritis (OA) is the most common degenerative joint disease; however, its etiopathogenesis is not completely understood. Here we show a role for NUDT7 in OA pathogenesis. Knockdown of NUDT7 in normal human chondrocytes results in the disruption of lipid homeostasis. Read More

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http://dx.doi.org/10.1038/s41467-018-05787-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109082PMC

Reconstitution of human peroxisomal β-oxidation in yeast.

FEMS Yeast Res 2018 12;18(8)

Department of Cell Biology, University of Alberta, Edmonton, MSB 5-14, Edmonton, Alberta T6G 2H7, Canada.

We report the permanent introduction of the human peroxisomal β-oxidation enzymatic machinery required for straight chain degradation of fatty acids into the yeast, Saccharomyces cerevisiae. Peroxisomal β-oxidation encompasses four sequential reactions that are confined to three enzymes. The genes encoding human acyl-CoA oxidase 1, peroxisomal multifunctional enzyme type 2 and 3-ketoacyl-CoA thiolase were introduced into the genomic loci of their yeast gene equivalents. Read More

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http://dx.doi.org/10.1093/femsyr/foy092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125039PMC
December 2018
9 Reads

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center.

Orphanet J Rare Dis 2018 08 16;13(1):141. Epub 2018 Aug 16.

Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Cra. 7 No 43 - 82, Building 54, Room 305A, Bogotá, Colombia.

The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the training of different professionals, as well as the research at basic, translational and clinical levels. Nevertheless, few reports have described the experience of these centers and their local and/or global impact in the study of IEM. Read More

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http://dx.doi.org/10.1186/s13023-018-0879-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097205PMC
August 2018
14 Reads

Expanding the spectrum of mutations and novel insights into disease mechanisms.

Mol Genet Metab Rep 2018 Sep 20;16:46-51. Epub 2018 Jul 20.

Department of Neurogenetics, Kolling Institute, Royal North Shore Hospital, St. Leonards, NSW, Australia.

Zellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different genes. This includes , an important regulator of peroxisome biogenesis. Using whole genome sequencing, we detected previously unreported, biallelic variants in [NM_004813. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2018.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072801PMC
September 2018
4 Reads

Clinical and Neuroimaging Spectrum of Peroxisomal Disorders.

Top Magn Reson Imaging 2018 Aug;27(4):241-257

Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.

Peroxisomes play vital roles in a broad spectrum of cellular metabolic pathways. Defects in genes encoding peroxisomal proteins can result in a wide array of disorders, depending upon the metabolic pathways affected. These disorders can be broadly classified into 2 main groups; peroxisome biogenesis disorders (PBDs) and single peroxisomal enzyme deficiencies. Read More

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http://dx.doi.org/10.1097/RMR.0000000000000172DOI Listing
August 2018
30 Reads

Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival.

Brain Dev 2019 Jan 2;41(1):57-65. Epub 2018 Aug 2.

Departments of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates; Research Institute, Children's Hospital of Eastern Ontario, Ottawa, Ontario K1H 5B2, Canada. Electronic address:

Background: Mutations in PEX16 cause peroxisome biogenesis disorder (PBD). Zellweger syndrome characterized by neurological dysfunction, dysmorphic features, liver disease and early death represents the severe end of this clinical spectrum. Here we discuss the diagnostic challenge of atypical PEX16 related PBD in 3 patients from highly inbred kindred and describe the role of specific metabolites analyses, fibroblasts studies, whole-exome sequencing (WES) and metabolomics profiling to establish the diagnosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183023
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http://dx.doi.org/10.1016/j.braindev.2018.07.015DOI Listing
January 2019
5 Reads

Characteristics of Japanese patients with X-linked adrenoleukodystrophy and concerns of their families from the 1st registry system.

Brain Dev 2019 Jan 1;41(1):50-56. Epub 2018 Aug 1.

Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.

Objective: Early diagnosis is critical in achieving the best outcome following hematopoietic stem cell transplantation (HSCT) for X-linked adrenoleukodystrophy (X-ALD). We used a questionnaire to gather detailed clinical information and information regarding the anxieties of patients' families using the registry system for X-ALD.

Methods: We and the patients' families established the registry system for X-ALD in Japan. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183033
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http://dx.doi.org/10.1016/j.braindev.2018.07.007DOI Listing
January 2019
11 Reads

Dendrimer-N-acetyl-L-cysteine modulates monophagocytic response in adrenoleukodystrophy.

Ann Neurol 2018 Sep;84(3):452-462

Moser Center for Leukodystrophies, Kennedy Krieger Institute.

Objective: X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disorder due to mutations in the peroxisomal very long-chain fatty acyl-CoA transporter, ABCD1, with limited therapeutic options. ALD may manifest in a slowly progressive adrenomyeloneuropathy (AMN) phenotype, or switch to rapid inflammatory demyelinating cerebral disease (cALD), in which microglia have been shown to play a pathophysiological role. The aim of this study was to determine the role of patient phenotype in the immune response of ex vivo monophagocytic cells to stimulation, and to evaluate the efficacy of polyamidoamine dendrimer conjugated to the antioxidant precursor N-acetyl-cysteine (NAC) in modulating this immune response. Read More

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http://doi.wiley.com/10.1002/ana.25303
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http://dx.doi.org/10.1002/ana.25303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454885PMC
September 2018
36 Reads
9.980 Impact Factor

[Biogenesis, the Function of Peroxisomes, and Their Role in Genetic Disease: With a Focus on the ABC Transporter].

Authors:
Tsuneo Imanaka

Yakugaku Zasshi 2018 ;138(8):1067-1083

Department of Biological Chemistry, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama.

 Peroxisomes are organelles that are present in almost all eukaryotic cells. These organelles were first described in 1954, in the cytoplasm of the proximal tubule cells in the mouse kidney, using electron microscopy by Rhodin and referred to as "microbodies". Then, de Duve and Baudhuin isolated microbodies from rat liver using density gradient centrifugation, defined the microbodies as membrane-bound organelles containing several HO-producing oxidases and HO-degrading catalase, and named them peroxisomes. Read More

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https://www.jstage.jst.go.jp/article/yakushi/138/8/138_18-00
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http://dx.doi.org/10.1248/yakushi.18-00023DOI Listing
August 2018
5 Reads

Long-Term Cholic Acid Therapy in Zellweger Spectrum Disorders.

Case Rep Gastroenterol 2018 May-Aug;12(2):360-372. Epub 2018 Jun 28.

Division of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.

Zellweger spectrum disorders (ZSDs), a subgroup of peroxisomal biogenesis disorders, have a generalized defect in peroxisome function. Liver disease in ZSDs has been linked to accumulation of C-bile acid intermediates due to the lack of peroxisomal β-oxidation of these intermediates to form primary C-bile acids. Oral treatment with primary bile acid, cholic acid (CA), inhibits formation of hepatotoxic C-bile acids by restoring normal physiologic feedback inhibition on bile acid synthesis. Read More

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http://dx.doi.org/10.1159/000490095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6062720PMC
June 2018
3 Reads

Borago officinalis seed oil (BSO), a natural source of omega-6 fatty acids, attenuates fat accumulation by activating peroxisomal beta-oxidation both in C. elegans and in diet-induced obese rats.

Food Funct 2018 Aug;9(8):4340-4351

University of Navarra, School of Sciences, Department of Biochemistry and Genetics, Pamplona, Spain.

Obesity is a medical condition with increasing prevalence, characterized by an accumulation of excess fat that could be improved using some bioactive compounds. However, many of these compounds with in vitro activity fail to respond in vivo, probably due to the sophistication of the physiological energy regulatory networks. In this context, C. Read More

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http://dx.doi.org/10.1039/c8fo00423dDOI Listing
August 2018
5 Reads

Induction of peroxisomal changes in oligodendrocytes treated with 7-ketocholesterol: Attenuation by α-tocopherol.

Biochimie 2018 Oct 19;153:181-202. Epub 2018 Jul 19.

Univ. Bourgogne Franche-Comté, Lab. Bio-PeroxIL, 'Biochemistry of the Peroxisome, Inflammation and Lipid Metabolism' (EA7270) / Inserm, Dijon, France. Electronic address:

The involvement of organelles in cell death is well established especially for endoplasmic reticulum, lysosomes and mitochondria. However, the role of the peroxisome is not well known, though peroxisomal dysfunction favors a rupture of redox equilibrium. To study the role of peroxisomes in cell death, 158 N murine oligodendrocytes were treated with 7-ketocholesterol (7 KC: 25-50 μM, 24 h). Read More

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http://dx.doi.org/10.1016/j.biochi.2018.07.009DOI Listing
October 2018
8 Reads