455 results match your criteria Oculocerebrorenal Syndrome


Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.

Eur J Ophthalmol 2020 Apr 27:1120672120920544. Epub 2020 Apr 27.

Department of Ophthalmology, School of Medicine, Stanford University, Palo Alto, CA, USA.

Background: Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral renal syndrome of Lowe () gene are found in Lowe syndrome patients. Although loss of vision is a major concern for families and physicians who take care of Lowe syndrome children, definitive cause of visual loss is still unclear. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1120672120920544DOI Listing

Angiosarcoma of an Arteriovenous Fistula for Hemodialysis in a Kidney Transplant Recipient Affected by Lowe's Syndrome.

Case Rep Nephrol 2020 13;2020:9734635. Epub 2020 Apr 13.

Università Cattolica del Sacro Cuore, Rome, Italy.

. To describe an uncommon, life-threatening condition such as angiosarcoma of a fistula for hemodialysis occurring in a transplant recipient affected by Lowe's syndrome. . Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2020/9734635DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174910PMC

Lowe syndrome - Case report with a novel mutation in the oculocerebrorenal gene.

Saudi J Kidney Dis Transpl 2020 Jan-Feb;31(1):285-288

Department of Nephrology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.

The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for LS and encodes an inositol polyphosphate-5-phosphatase. We report a male child from North India, with LS with missense mutation in exon 14 of the OCRL gene. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/1319-2442.279955DOI Listing

[Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Jan;37(1):28-32

Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China.

Objective: To explore the genetic basis of an infant featuring congenital cataract, developmental delay and proteinuria.

Methods: Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using targeted capture and high-throughput sequencing on a NextSeq 500 platform. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.01.008DOI Listing
January 2020

Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase.

CEN Case Rep 2020 May 9;9(2):95-100. Epub 2019 Nov 9.

Department of Pediatrics, Minoh City Hospital, 5-7-1 Kayano, Minoh City, Osaka, 562-8562, Japan.

The oculocerebrorenal disorder of Lowe syndrome is an X-linked mutation in the gene oculocerebrorenal syndrome of Lowe 1 (OCRL), characterized by the triad of congenital cataracts, severe intellectual impairment, and renal tubular dysfunction. Manifestations of phenotype in female carriers and patients are extremely rare. We present a female case with congenital cataracts, severe intellectual impairment, sensorineural hearing loss, and renal tubular dysfunction as Lowe syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13730-019-00434-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7148414PMC

Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature.

J Med Case Rep 2019 Nov 2;13(1):325. Epub 2019 Nov 2.

Centre of Reproduction and Genetics, Assisting Nature, Thessaloniki, Greece.

Background: Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. The OCRL gene encodes the protein phosphatidylinositol 4,5-bisphosphate-5-phosphatase, a lipid phosphatase, located in the trans-Golgi network. Point mutations in the OCRL gene cause Lowe syndrome and Dent disease, which are characterized as a multisystemic disorder. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13256-019-2263-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825338PMC
November 2019

Lowe syndrome with extremely short stature: growth hormone deficiency may be the pathogeny.

Growth Factors 2019 08 2;37(3-4):170-177. Epub 2019 Oct 2.

Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou Medical University, Wenzhou, Zhejiang, PR China.

Lowe syndrome is an x-linked disorder characterized by congenital cataracts, nervous system abnormalities and renal tubular dysfunction. With the rising number of reported cases, more patients are found to suffer from endocrine abnormalities. Hereby, three Chinese patients with typical symptoms and extremely short stature were described. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/08977194.2019.1669589DOI Listing
August 2019
1 Read

Phospholipase C-related catalytically inactive protein regulates cytokinesis by protecting phosphatidylinositol 4,5-bisphosphate from metabolism in the cleavage furrow.

Sci Rep 2019 09 4;9(1):12729. Epub 2019 Sep 4.

Department of Cellular and Molecular Pharmacology, Division of Basic Life Sciences, Institute of Biomedical and Health Sciences, Hiroshima University, 1-2-3, Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.

Cytokinesis is initiated by the formation and ingression of the cleavage furrow. Phosphatidylinositol 4,5-bisphosphate [PI(4,5)P] accumulation followed by RhoA translocation to the cleavage furrow are prerequisites for cytokinesis progression. Here, we investigated whether phospholipase C (PLC)-related catalytically inactive protein (PRIP), a metabolic modulator of PI(4,5)P, regulates PI(4,5)P-mediated cytokinesis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-019-49156-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726632PMC
September 2019

Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome.

Mol Genet Genomic Med 2019 09 3;7(9):e876. Epub 2019 Aug 3.

Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.

Background: Lowe syndrome is a rare X-linked syndrome that is characterized by involvement of the eyes, central nervous system, and kidneys. The aim of the present study was to determine the molecular basis of four patients with congenital cataract, infantile congenital hypotonia, and proximal renal tubular defect.

Methods: Four children who met the clinical manifestations of Lowe syndrome were enrolled in this study. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.876DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732312PMC
September 2019
2 Reads

Novel mutation in leading to a severe form of Lowe syndrome.

Int J Ophthalmol 2019 18;12(7):1057-1060. Epub 2019 Jul 18.

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, Guangdong Province, China.

Aim: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome.

Methods: All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral blood of the pedigree members and 100 unrelated healthy Chinese subjects. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18240/ijo.2019.07.01DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629803PMC

Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL in .

Mol Biol Cell 2019 08 19;30(17):2268-2282. Epub 2019 Jun 19.

Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06510.

Mutations of the inositol 5-phosphatase OCRL cause Lowe syndrome (LS), characterized by congenital cataract, low IQ, and defective kidney proximal tubule resorption. A key subset of LS mutants abolishes OCRL's interactions with endocytic adaptors containing F&H peptide motifs. Converging unbiased methods examining human peptides and the unicellular phagocytic organism reveal that, like OCRL, the OCRL orthologue Dd5P4 binds two proteins closely related to the F&H proteins APPL1 and Ses1/2 (also referred to as IPIP27A/B). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1091/mbc.E18-08-0510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743453PMC
August 2019
10 Reads

Epilepsy and cranial hemangioma in Lowe syndrome.

Acta Neurol Belg 2019 Jun 12. Epub 2019 Jun 12.

Neurosurgery, Sant'Anna University Hospital Ferrara, Via Aldo Moro 8, 8-44124, Cona, FE, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13760-019-01162-yDOI Listing
June 2019
4 Reads

The enemy of my enemy: PTEN and PLCXD collude to fight endosomal PtdIns(4,5)P.

J Cell Biol 2019 Jul 12;218(7):2082-2083. Epub 2019 Jun 12.

Department of Biology, Rosenstiel Basic Medical Sciences Research Center, Brandeis University, Waltham, MA

Loss of the phosphoinositide 5-phosphatase OCRL causes accumulation of PtdIns(4,5)P on membranes and, ultimately, Lowe syndrome. In this issue, Mondin et al. (2019. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1083/jcb.201906022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6605809PMC
July 2019
2 Reads

Temper outbursts in Lowe syndrome: Characteristics, sequence, environmental context and comparison to Prader-Willi syndrome.

J Appl Res Intellect Disabil 2019 Sep 29;32(5):1216-1227. Epub 2019 May 29.

School of Life and Health Sciences, Aston University, Birmingham, UK.

Background: There is limited research into the nature and aetiology of temper outbursts in people with intellectual disabilities. In this study, we describe the phenomenology and environmental context of temper outbursts in Lowe syndrome, a rare genetic syndrome in which outbursts are purportedly frequent.

Method: A temper outburst interview (TOI) was conducted with caregivers of seventeen individuals with Lowe syndrome to generate an account of the behavioural sequence, common antecedents and consequences of temper outbursts, and to enable comparisons with similar work on Prader-Willi syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jar.12613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851695PMC
September 2019
2 Reads

PTEN reduces endosomal PtdIns(4,5)P in a phosphatase-independent manner via a PLC pathway.

J Cell Biol 2019 07 22;218(7):2198-2214. Epub 2019 May 22.

Institute for Research in Immunology and Cancer, Université de Montréal, Montreal, Canada

The tumor suppressor PTEN dephosphorylates PtdIns(3,4,5)P into PtdIns(4,5)P Here, we make the unexpected discovery that in PTEN reduces PtdIns(4,5)P levels on endosomes, independently of its phosphatase activity. This new PTEN function requires the enzymatic action of dPLCXD, an atypical phospholipase C. Importantly, we discovered that this novel PTEN/dPLCXD pathway can compensate for depletion of dOCRL, a PtdIns(4,5)P phosphatase. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1083/jcb.201805155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6605811PMC
July 2019
5 Reads

[Clinical and molecular genetic analysis of a pediatric patient with Lowe syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Jun;36(6):613-615

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong 510623, China. Email:

Objective: To explore the genetic etiology for a child with ocular dysplasia.

Methods: Clinical examination was carried out. Medical history of the child was collected. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.06.021DOI Listing
June 2019
3 Reads

Guanine nucleotide exchange factors activate Rab8a for Toll-like receptor signalling.

Small GTPases 2019 Mar 7:1-17. Epub 2019 Mar 7.

a Institute for Molecular Bioscience (IMB) and IMB Centre for Inflammation and Disease Research (CIDR) , The University of Queensland , Brisbane , QLD , Australia.

Macrophages are important immune sentinels that detect and clear pathogens and initiate inflammatory responses through the activation of surface receptors, including Toll-like receptors (TLRs). Activated TLRs employ complex cellular trafficking and signalling pathways to initiate transcription for inflammatory cytokine programs. We have previously shown that Rab8a is activated by multiple TLRs and regulates downstream Akt/mTOR signalling by recruiting the effector PI3Kγ, but the guanine nucleotide exchange factors (GEF) canonically required for Rab8a activation in TLR pathways is not known. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/21541248.2019.1587278DOI Listing
March 2019
17 Reads

IPIP27 Coordinates PtdIns(4,5)P Homeostasis for Successful Cytokinesis.

Curr Biol 2019 03 21;29(5):775-789.e7. Epub 2019 Feb 21.

School of Biology, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK. Electronic address:

During cytokinesis, an actomyosin contractile ring drives the separation of the two daughter cells. A key molecule in this process is the inositol lipid PtdIns(4,5)P, which recruits numerous factors to the equatorial region for contractile ring assembly. Despite the importance of PtdIns(4,5)P in cytokinesis, the regulation of this lipid in cell division remains poorly understood. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cub.2019.01.043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408333PMC
March 2019
4 Reads
9.571 Impact Factor

Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe () gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.

Mol Vis 2018 31;24:847-852. Epub 2018 Dec 31.

Clinical and Experimental Sciences, University of Southampton, UK.

Purpose: To identify the genetic variation in two unrelated probands with congenital cataract and to perform functional analysis of the detected variants.

Methods: Clinical examination and phenotyping, segregation, and functional analysis were performed for the two studied pedigrees.

Results: A novel gene variant (c. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334980PMC
May 2019
36 Reads
1.986 Impact Factor

Ophthalmological finding in a patient with lowe syndrome.

Cesk Slov Oftalmol Winter 2018;74(3):104-106

The authors present the ophthamological finding in a patient who at the age of 4.5 months was admitted due to a finding of total bilateral congenital cataract. The patient was observed by a neurologist for central hypotonia and mental retardation. Read More

View Article

Download full-text PDF

Source
http://www.cs-ophthalmology.cz/en/journal/2018/3/4
Publisher Site
http://dx.doi.org/10.31348/2018/1/4-3-2018DOI Listing
April 2019
14 Reads

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.

Hum Mol Genet 2019 06;28(12):1931-1946

Institute of Physiology, University of Zurich, Zurich, Switzerland.

Mutations in OCRL encoding the inositol polyphosphate 5-phosphatase OCRL (Lowe oculocerebrorenal syndrome protein) disrupt phosphoinositide homeostasis along the endolysosomal pathway causing dysfunction of the cells lining the kidney proximal tubule (PT). The dysfunction can be isolated (Dent disease 2) or associated with congenital cataracts, central hypotonia and intellectual disability (Lowe syndrome). The mechanistic understanding of Dent disease 2/Lowe syndrome remains scarce due to limitations of animal models of OCRL deficiency. Read More

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
Publisher Site
http://dx.doi.org/10.1093/hmg/ddy449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6548226PMC
June 2019
26 Reads

Anesthetic challenges in a child with Lowe's and Fanconi syndrome.

Indian J Anaesth 2018 Nov;62(11):900-902

Department of Anesthesiology, Critical Care and Pain Medicine, AIIMS, New Delhi, India.

Oculocerebrorenal syndrome of Lowe is a rare X-linked metabolic disorder complicated by Fanconi's syndrome. Anaesthetic management of Lowe syndrome with Fanconi's syndrome is challenging to the anaesthesiologists in view of difficult airway due to microcephaly, metabolic abnormalities, and risk of peri-operative seizures. We report a successful anaesthetic management of a case of 2-year-old child scheduled for evaluation under anaesthesia following bilateral lens aspiration surgery. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ija.IJA_294_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236779PMC
November 2018
35 Reads

Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review.

Acta Clin Belg 2019 Dec 3;74(6):460-464. Epub 2018 Dec 3.

Department of Pediatrics, Division of Pediatric Nephrology and Rheumatology, Ghent University Hospital , Ghent , Belgium.

We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and growth impairment. Further evaluation revealed rickets caused by proximal renal tubular dysfunction. At age 3, the boy exhibited dysmorphic features and bilateral cataract. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/17843286.2018.1551743DOI Listing
December 2019
9 Reads

The structure of Legionella effector protein LpnE provides insights into its interaction with Oculocerebrorenal syndrome of Lowe (OCRL) protein.

FEBS J 2019 02 20;286(4):710-725. Epub 2018 Dec 20.

Department of Biochemistry, University of Saskatchewan, Saskatoon, Canada.

Legionella pneumophila is a freshwater bacterium that replicates in predatory amoeba and alveolar macrophage. The ability of L. pneumophila to thrive in eukaryotic host cells is conferred by the Legionella containing vacuole (LCV). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/febs.14710DOI Listing
February 2019
6 Reads
4.001 Impact Factor

The impact of phosphoinositide 5-phosphatases on phosphoinositides in cell function and human disease.

J Lipid Res 2019 02 7;60(2):276-286. Epub 2018 Sep 7.

Interdisciplinary Research Institute (IRIBHM), Université Libre de Bruxelles, 1070 Brussels, Belgium

Phosphoinositides (PIs) are recognized as major signaling molecules in many different functions of eukaryotic cells. PIs can be dephosphorylated by multiple phosphatase activities at the 5-, 4-, and 3- positions. Human PI 5-phosphatases belong to a family of 10 members. Read More

View Article

Download full-text PDF

Source
http://www.jlr.org/lookup/doi/10.1194/jlr.R087908
Publisher Site
http://dx.doi.org/10.1194/jlr.R087908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358294PMC
February 2019
24 Reads

Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.

Mol Autism 2018 15;9:44. Epub 2018 Aug 15.

1Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.

Background: Lowe syndrome (LS) is a rare genetic disorder caused by loss of function mutations in the X-linked gene, , which codes for inositol polyphosphate 5-phosphatase. LS is characterized by the triad of congenital cataracts, neurodevelopmental impairment (primarily intellectual and developmental disabilities [IDD]), and renal proximal tubular dysfunction. Studies carried out over the years have shown that hypomorphic mutations in adversely affect endosome recycling and actin polymerization in kidney cells and patient-derived fibroblasts. Read More

View Article

Download full-text PDF

Source
https://molecularautism.biomedcentral.com/articles/10.1186/s
Publisher Site
http://dx.doi.org/10.1186/s13229-018-0227-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094927PMC
December 2018
14 Reads

Clinical Approach to Proximal Renal Tubular Acidosis in Children.

Adv Chronic Kidney Dis 2018 07;25(4):351-357

Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, USA; and Pediatrics Department B, Schneider Children's Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Israel.

Proximal renal tubular acidosis (pRTA) is an inherited or acquired clinical syndrome in which there is a decreased bicarbonate reclamation in the proximal tubule resulting in normal anion gap hyperchloremic metabolic acidosis. In children, pRTA may be isolated but is often associated with a general proximal tubular dysfunction known as Fanconi syndrome which frequently heralds an underlying systemic disorder from which it arises. When accompanied by Fanconi syndrome, pRTA is characterized by additional renal wasting of phosphate, glucose, uric acid, and amino acids. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.ackd.2018.05.006DOI Listing
July 2018
39 Reads

Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism.

Cell Mol Life Sci 2018 Nov 9;75(21):4021-4040. Epub 2018 Jun 9.

Division of Nephrology, Department of Medicine, Selzman Institute for Kidney Health, Baylor College of Medicine, One Baylor Plaza, ABBR R706, M/S BCM395, Houston, TX, 77030-3498, USA.

Mitochondrial intracrines are extracellular signaling proteins, targeted to the mitochondria. The pathway for mitochondrial targeting of mitochondrial intracrines and actions in the mitochondria remains unknown. Megalin/LRP2 mediates the uptake of vitamins and proteins, and is critical for clearance of amyloid-β protein from the brain. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00018-018-2847-3DOI Listing
November 2018
18 Reads

Quantitative Imaging Flow Cytometry of Legionella-Infected Dictyostelium Amoebae Reveals the Impact of Retrograde Trafficking on Pathogen Vacuole Composition.

Appl Environ Microbiol 2018 06 17;84(11). Epub 2018 May 17.

Institute of Medical Microbiology, University of Zürich, Zürich, Switzerland

The ubiquitous environmental bacterium survives and replicates within amoebae and human macrophages by forming a -containing vacuole (LCV). In an intricate process governed by the bacterial Icm/Dot type IV secretion system and a plethora of effector proteins, the nascent LCV interferes with a number of intracellular trafficking pathways, including retrograde transport from endosomes to the Golgi apparatus. Conserved retrograde trafficking components, such as the retromer coat complex or the phosphoinositide (PI) 5-phosphatase 5-phosphatase 4 (Dd5P4)/oculocerebrorenal syndrome of Lowe (OCRL), restrict intracellular replication of by an unknown mechanism. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1128/AEM.00158-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960973PMC
June 2018
42 Reads

Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex.

PLoS One 2018 14;13(2):e0192635. Epub 2018 Feb 14.

Department of Biological Sciences, Purdue University, West Lafayette, IN United States of America.

Lowe syndrome is an X-linked condition characterized by congenital cataracts, neurological abnormalities and kidney malfunction. This lethal disease is caused by mutations in the OCRL1 gene, which encodes for the phosphatidylinositol 5-phosphatase Ocrl1. While in the past decade we witnessed substantial progress in the identification and characterization of LS patient cellular phenotypes, many of these studies have been performed in knocked-down cell lines or patient's cells from accessible cell types such as skin fibroblasts, and not from the organs affected. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0192635PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812626PMC
April 2018
8 Reads

"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".

Am J Med Genet A 2018 Feb 11;176(2):460-464. Epub 2017 Dec 11.

Département de Biochimie Pharmacologie Toxicologie, Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire Grenoble Alpes, Université Grenoble Alpes, Grenoble, France.

Lowe syndrome (LS) is a very rare disorder of phosphatidylinositol metabolism, which manifests with a complex phenotype comprising a clinical triad encompassing major abnormalities of the eyes, the kidneys, and the central nervous system. We are reporting a 23-year-old Egyptian male with a severe phenotype of LS with a minimal kidney disease. Direct sequencing of the OCRL gene detected a p. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38572DOI Listing
February 2018
13 Reads

dOCRL maintains immune cell quiescence by regulating endosomal traffic.

PLoS Genet 2017 Oct 13;13(10):e1007052. Epub 2017 Oct 13.

Rosenstiel Basic Medical Sciences Research Center, Department of Biology, Brandeis University, Waltham, Massachusetts, United States of America.

Lowe Syndrome is a developmental disorder characterized by eye, kidney, and neurological pathologies, and is caused by mutations in the phosphatidylinositol-5-phosphatase OCRL. OCRL plays diverse roles in endocytic and endolysosomal trafficking, cytokinesis, and ciliogenesis, but it is unclear which of these cellular functions underlie specific patient symptoms. Here, we show that mutation of Drosophila OCRL causes cell-autonomous activation of hemocytes, which are macrophage-like cells of the innate immune system. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1007052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656325PMC
October 2017
26 Reads

Control of actin polymerization via the coincidence of phosphoinositides and high membrane curvature.

J Cell Biol 2017 11 18;216(11):3745-3765. Epub 2017 Sep 18.

Wellcome Trust/Cancer Research UK Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge, England, UK

The conditional use of actin during clathrin-mediated endocytosis in mammalian cells suggests that the cell controls whether and how actin is used. Using a combination of biochemical reconstitution and mammalian cell culture, we elucidate a mechanism by which the coincidence of PI(4,5)P and PI(3)P in a curved vesicle triggers actin polymerization. At clathrin-coated pits, PI(3)P is produced by the INPP4A hydrolysis of PI(3,4)P, and this is necessary for actin-driven endocytosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1083/jcb.201704061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674896PMC
November 2017
31 Reads

Loss of OCRL increases ciliary PI(4,5)P in Lowe oculocerebrorenal syndrome.

J Cell Sci 2017 Oct 4;130(20):3447-3454. Epub 2017 Sep 4.

Stanford University, Department of Ophthalmology, 1651 Page Mill Road, Rm 2220, Palo Alto, CA 94304, USA

Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P, cause Lowe syndrome. Previously we showed that OCRL localizes to the primary cilium, which has a distinct membrane phospholipid composition, but disruption of phosphoinositides in the ciliary membrane is poorly understood. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1242/jcs.200857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665444PMC
October 2017
42 Reads

A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.

Eur J Med Genet 2017 Dec 9;60(12):631-634. Epub 2017 Aug 9.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Lowe syndrome is an X-linked inherited disorder diagnosed by congenital cataracts, intellectual impairment, and renal tubular dysfunction. It is caused by pathogenic variants of the oculocerebrorenal syndrome of Lowe gene (OCRL), of which more than 250 have been reported so far. Around 30 of these variants are intronic nucleotide changes; however, to show the pathogenicity of these variants is usually laborious. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.08.001DOI Listing
December 2017
22 Reads

PALLD Regulates Phagocytosis by Enabling Timely Actin Polymerization and Depolymerization.

J Immunol 2017 09 24;199(5):1817-1826. Epub 2017 Jul 24.

State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, RuiJin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

PALLD is an actin cross-linker supporting cellular mechanical tension. However, its involvement in the regulation of phagocytosis, a cellular activity essential for innate immunity and physiological tissue turnover, is unclear. We report that is highly induced along with all--retinoic acid-induced maturation of myeloid leukemia cells, to promote Ig- or complement-opsonized phagocytosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4049/jimmunol.1602018DOI Listing
September 2017
63 Reads

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.

Nat Rev Nephrol 2017 Aug 3;13(8):455-470. Epub 2017 Jul 3.

Institute of Physiology, University of Zurich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland.

Lowe syndrome is an X-linked disease that is characterized by congenital cataracts, central hypotonia, intellectual disability and renal Fanconi syndrome. The disease is caused by mutations in OCRL, which encodes an inositol polyphosphate 5-phosphatase (OCRL) that acts on phosphoinositides - quantitatively minor constituents of cell membranes that are nonetheless pivotal regulators of intracellular trafficking. In this Review we summarize the considerable progress made over the past decade in understanding the cellular roles of OCRL in regulating phosphoinositide balance along the endolysosomal pathway, a fundamental system for the reabsorption of proteins and solutes by proximal tubular cells. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrneph.2017.83DOI Listing
August 2017
13 Reads

Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts.

J Dermatol 2018 Mar 18;45(3):372-373. Epub 2017 May 18.

Department of Dermatology, Osaka University School of Medicine, Suita, Osaka.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.13881DOI Listing
March 2018
11 Reads

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.

Sci Rep 2017 05 4;7(1):1442. Epub 2017 May 4.

Department of Ophthalmology, Indiana University, Indianapolis, IN, USA.

Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments. OCRL1 encodes an inositol polyphosphate 5-phosphatase which preferentially dephosphorylates phosphatidylinositide 4,5 bisphosphate (PI(4,5)P). We have identified two novel mutations in two unrelated Lowe syndrome patients with congenital glaucoma. Read More

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41598-017-01447-3
Publisher Site
http://dx.doi.org/10.1038/s41598-017-01447-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431454PMC
May 2017
66 Reads

Gonadotrophin abnormalities in an infant with Lowe syndrome.

Endocrinol Diabetes Metab Case Rep 2017 19;2017. Epub 2017 Apr 19.

Departments of Paediatric Endocrinology and Diabetes.

Summary: This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic-pituitary-gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EDM-17-0042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409933PMC
April 2017
13 Reads

[Prenatal diagnosis and follow-up of a case with Lowe syndrome caused by interstitial deletion of Xq25-26].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Apr;34(2):236-239

Prenatal Diagnosis Center of Jiangsu Province, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing, Jiangsu 210008, China.

Objective: To report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing.

Methods: Detailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2017.02.019DOI Listing
April 2017
12 Reads

Kidney Tubular Ablation of / Phenocopies Lowe Syndrome Tubulopathy.

J Am Soc Nephrol 2017 May 28;28(5):1399-1407. Epub 2016 Nov 28.

Departments of Internal Medicine,

Lowe syndrome and Dent disease are two conditions that result from mutations of the inositol 5-phosphatase oculocerebrorenal syndrome of Lowe (OCRL) and share the feature of impaired kidney proximal tubule function. Genetic ablation of in mice failed to recapitulate the human phenotypes, possibly because of the redundant functions of OCRL and its paralog type 2 inositol polyphosphate-5-phosphatase (INPP5B). Germline knockout of both paralogs in mice results in early embryonic lethality. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1681/ASN.2016080913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407733PMC
May 2017
18 Reads

Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.

World J Pediatr 2016 Nov 8;12(4):484-488. Epub 2016 Apr 8.

Guangzhou Women and Children's Medical Center, Guangzhou, China.

Background: Lowe syndrome, an X-linked, inheritable disease with clinical symptoms of congenital cataracts, incomplete Fanconi syndrome, and mental retardation, has an approximate incidence of 1 in 500 000. Nearly 200 OCRL mutations related to Lowe syndrome have been found worldwide, with only ten mutations among the Chinese population. Since more mutations may exist in Chinese patients, we sequenced and analyzed the OCRL genes of six children with Lowe syndrome in a medical center in China. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12519-016-0017-yDOI Listing
November 2016
7 Reads

Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.

Hum Mutat 2017 02 21;38(2):152-159. Epub 2016 Nov 21.

Cellular Myology and Pathology, INSERM, U1216, Grenoble, France.

Dent-2 disease and Lowe syndrome are two pathologies caused by mutations in inositol polyphosphate 5-phosphatase OCRL gene. Both conditions share proximal tubulopathy evolving to chronic kidney failure. Lowe syndrome is in addition defined by a bilateral congenital cataract, intellectual disability, and hypotonia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23139DOI Listing
February 2017
25 Reads

Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.

Pediatr Nephrol 2017 04 20;32(4):621-625. Epub 2016 Oct 20.

Department of Pediatrics, Kansai Medical University, 2-5-1 Shin-machi, Hirakata, Osaka, 573-1010, Japan.

Background: The oculocerebrorenal syndrome of Lowe gene (OCRL) is located on chromosome Xq25-26 and encodes an inositol polyphosphate-5-phosphatase (OCRL-1). Mutations in this gene cause Lowe syndrome (LS) or type 2 Dent disease, of which low-molecular-weight (LMW) proteinuria is a characteristic feature. Megalin is considered to play an important role in the development of renal tubular proteinuria. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-016-3535-xDOI Listing
April 2017
8 Reads

Metabolic, endocrine, and other genetic disorders.

Handb Clin Neurol 2016 ;136:1221-59

Department of Radiology, Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

Metabolic, endocrine, and genetic diseases of the brain include a very large array of disorders caused by a wide range of underlying abnormalities and involving a variety of brain structures. Often these disorders manifest as recognizable, though sometimes overlapping, patterns on neuroimaging studies that may enable a diagnosis based on imaging or may alternatively provide enough clues to direct further diagnostic evaluation. The diagnostic workup can include various biochemical laboratory or genetic studies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-444-53486-6.00063-6DOI Listing
February 2017
45 Reads

Lowe syndrome: Dysregulation of autophagosome-lysosome fusion in Lowe syndrome.

Authors:
Susan J Allison

Nat Rev Nephrol 2016 09 18;12(9):507. Epub 2016 Jul 18.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrneph.2016.110DOI Listing
September 2016
6 Reads

Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL.

Nat Cell Biol 2016 08 11;18(8):839-850. Epub 2016 Jul 11.

Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.

Phosphoinositides (PtdIns) control fundamental cell processes, and inherited defects of PtdIns kinases or phosphatases cause severe human diseases, including Lowe syndrome due to mutations in OCRL, which encodes a PtdIns(4,5)P2 5-phosphatase. Here we unveil a lysosomal response to the arrival of autophagosomal cargo in which OCRL plays a key part. We identify mitochondrial DNA and TLR9 as the cargo and the receptor that triggers and mediates, respectively, this response. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ncb3386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040511PMC
August 2016
40 Reads

Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome.

Eye (Lond) 2016 Sep 27;30(9):1272-3. Epub 2016 May 27.

Department of Ophthalmology, McGill University, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/eye.2016.100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023795PMC
September 2016
5 Reads