432 results match your criteria Oculocerebrorenal Syndrome


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

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

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

Acta Clin Belg 2018 Dec 3:1-5. Epub 2018 Dec 3.

a 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

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http://dx.doi.org/10.1080/17843286.2018.1551743DOI Listing
December 2018

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

FEBS J 2018 Nov 26. Epub 2018 Nov 26.

Department of Biochemistry, University of Saskatchewan, 107 Wiggins Road, Saskatoon, Saskatchewan, S7N 5E5, 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

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http://dx.doi.org/10.1111/febs.14710DOI Listing
November 2018
2 Reads
4.001 Impact Factor

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

J Lipid Res 2018 Sep 7. Epub 2018 Sep 7.

Universite Libre de Bruxelles, 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

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http://www.jlr.org/lookup/doi/10.1194/jlr.R087908
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http://dx.doi.org/10.1194/jlr.R087908DOI Listing
September 2018
8 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

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http://dx.doi.org/10.1186/s13229-018-0227-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094927PMC
December 2018

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

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

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

Appl Environ Microbiol 2018 Jun 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

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http://dx.doi.org/10.1128/AEM.00158-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960973PMC
June 2018
8 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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0192635PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812626PMC
April 2018
3 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

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http://dx.doi.org/10.1002/ajmg.a.38572DOI Listing
February 2018
10 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

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http://dx.doi.org/10.1371/journal.pgen.1007052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656325PMC
October 2017
11 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

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http://dx.doi.org/10.1083/jcb.201704061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674896PMC
November 2017
21 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

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http://dx.doi.org/10.1242/jcs.200857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665444PMC
October 2017
10 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

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http://dx.doi.org/10.1016/j.ejmg.2017.08.001DOI Listing
December 2017
10 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

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http://dx.doi.org/10.4049/jimmunol.1602018DOI Listing
September 2017
26 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

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http://dx.doi.org/10.1038/nrneph.2017.83DOI Listing
August 2017
6 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

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http://www.nature.com/articles/s41598-017-01447-3
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http://dx.doi.org/10.1038/s41598-017-01447-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431454PMC
May 2017
30 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

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http://dx.doi.org/10.1530/EDM-17-0042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409933PMC
April 2017
10 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

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2017.02.019DOI Listing
April 2017
9 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

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http://dx.doi.org/10.1681/ASN.2016080913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407733PMC
May 2017
8 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

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http://dx.doi.org/10.1007/s12519-016-0017-yDOI Listing
November 2016
4 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

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http://dx.doi.org/10.1002/humu.23139DOI Listing
February 2017
15 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

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http://dx.doi.org/10.1007/s00467-016-3535-xDOI Listing
April 2017
4 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

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http://dx.doi.org/10.1016/B978-0-444-53486-6.00063-6DOI Listing
February 2017
15 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.

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http://dx.doi.org/10.1038/nrneph.2016.110DOI Listing
September 2016
2 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

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http://dx.doi.org/10.1038/ncb3386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040511PMC
August 2016
11 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.

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

Multiple protrusive epidermal cysts on the scalp of a Lowe syndrome patient.

J Dermatol 2017 Jan 14;44(1):105-107. Epub 2016 May 14.

Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1111/1346-8138.13444DOI Listing
January 2017
5 Reads

The oculocerebrorenal syndrome of Lowe: an update.

Pediatr Nephrol 2016 12 24;31(12):2201-2212. Epub 2016 Mar 24.

Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscular hypotonia are the typical first diagnostic clues apparent at birth, the manifestations of incomplete renal Fanconi syndrome are often recognized only later in life. Other characteristic features are progressive severe growth retardation and behavioral problems, with tantrums. Read More

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http://dx.doi.org/10.1007/s00467-016-3343-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118406PMC
December 2016
7 Reads

On the Origin of Urinary Renin: A Translational Approach.

Hypertension 2016 May 29;67(5):927-33. Epub 2016 Feb 29.

From the Division of Pharmacology and Vascular Medicine (L.C.W.R, I.M.G., J.M.G.v.G., A.H.J.D.), Division of Nephrology and Transplantation (L.C.W.R., R.Z., E.J.H.), Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands; Department of Pharmacology, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands (B.F.J.H., H.A.J.S.-B.); Department of Physiology and Biophysics, Zilkha Neurogenetic Institute, University of Southern California, Los Angeles (D.N., J. P.-P.); Department of Pharmacology, Kagawa University, Kagawa, Japan (D.N.); and UCL Centre for Nephrology, Royal Free Hospital, London, United Kingdom (S.B.W.).

Urinary angiotensinogen excretion parallels albumin excretion, which is not the case for renin, while renin's precursor, prorenin, is undetectable in urine. We hypothesized that renin and prorenin, given their smaller size, are filtered through the glomerulus in larger amounts than albumin and angiotensinogen, and that differences in excretion rate are because of a difference in reabsorption in the proximal tubule. To address this, we determined the glomerular sieving coefficient of renin and prorenin and measured urinary renin/prorenin 1) after inducing prorenin in Cyp1a1-Ren2 rats and 2) in patients with Dent disease or Lowe syndrome, disorders characterized by defective proximal tubular reabsorption. Read More

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.115.07012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833618PMC
May 2016
17 Reads

[Renal hypophosphatemia:pathophysiology and treatment].

Authors:
Takashi Sekine

Clin Calcium 2016 Feb;26(2):284-94

Department of Pediatrics, Toho University Ohashi Hospital, Japan.

Serum level of phosphate is regulated by the kidney, especially proximal tubule. The transcellular transport of phosphate in the proximal tubule is mediated via Na dependent transporters, i.e. Read More

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http://dx.doi.org/CliCa1602284294DOI Listing
February 2016
8 Reads

[A case of Lowe syndrome].

Zhonghua Er Ke Za Zhi 2015 Nov;53(11):862-3

Email:

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November 2015
3 Reads

Rab35 GTPase Triggers Switch-like Recruitment of the Lowe Syndrome Lipid Phosphatase OCRL on Newborn Endosomes.

Curr Biol 2016 Jan 24;26(1):120-8. Epub 2015 Dec 24.

Membrane Traffic and Cell Division Lab, Cell Biology and Infection Department, Institut Pasteur, 25-28 Rue du Dr. Roux, 75724 Paris Cedex 15, France; Centre National de la Recherche Scientifique UMR3691, 75015 Paris, France. Electronic address:

Phosphoinositide (PtdIns) homeostasis requires a tight spatial and temporal regulation during the endocytic process [1]. Indeed, PtdIns(4,5)P2 plays a crucial role in endocytosis by controlling clathrin-coated pit formation, whereas its conversion into PtdIns4P right after scission of clathrin-coated vesicles (CCVs) is essential for successful uncoating and cargo sorting [1-6]. In non-neuronal cells, endosomal PtdIns(4,5)P2 hydrolysis critically relies on the lipid phosphatase OCRL [7-9], the inactivation of which causes the Oculo-Cerebro-Renal syndrome of Lowe [10, 11]. Read More

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http://dx.doi.org/10.1016/j.cub.2015.11.040DOI Listing
January 2016
6 Reads

OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates.

Mol Biol Cell 2016 Jan 28;27(1):90-107. Epub 2015 Oct 28.

Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, United Kingdom

Mutation of the inositol 5-phosphatase OCRL1 causes Lowe syndrome and Dent-2 disease. Loss of OCRL1 function perturbs several cellular processes, including membrane traffic, but the underlying mechanisms remain poorly defined. Here we show that OCRL1 is part of the membrane-trafficking machinery operating at the trans-Golgi network (TGN)/endosome interface. Read More

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http://dx.doi.org/10.1091/mbc.E15-06-0329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694765PMC
January 2016
5 Reads

The role of the Lowe syndrome protein OCRL in the endocytic pathway.

Biol Chem 2015 Dec;396(12):1293-300

Mutations of the inositol-5-phosphatase OCRL cause Lowe syndrome and Dent-II disease. Both are rare genetic disorders characterized by renal defects. Lowe syndrome is furthermore characterized by defects of the eye (congenital cataracts) and nervous system (mental disabilities, hypotonia). Read More

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http://www.degruyter.com/dg/viewarticle.fullcontentlink:pdfe
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http://www.degruyter.com/view/j/bchm.2015.396.issue-12/hsz-2
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http://dx.doi.org/10.1515/hsz-2015-0180DOI Listing
December 2015
3 Reads

Role of Ocrl1 in primary cilia assembly.

Int Rev Cell Mol Biol 2015 11;317:331-47. Epub 2015 Mar 11.

Department of Biological Sciences, Purdue University, West Lafayette, IN, USA.

Lowe syndrome is a lethal X-linked genetic disorder characterized by congenital cataracts, mental retardation, and kidney dysfunction. It is caused by mutations in the OCRL1 (oculocerebrorenal syndrome of Lowe) gene that encodes a phosphatidylinositol 5-phosphatase (EC 3.1. Read More

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http://dx.doi.org/10.1016/bs.ircmb.2015.02.003DOI Listing
February 2016
3 Reads

The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.

PLoS Genet 2015 Apr 2;11(4):e1005058. Epub 2015 Apr 2.

Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom.

Lowe syndrome and Dent-2 disease are caused by mutation of the inositol 5-phosphatase OCRL1. Despite our increased understanding of the cellular functions of OCRL1, the underlying basis for the renal tubulopathy seen in both human disorders, of which a hallmark is low molecular weight proteinuria, is currently unknown. Here, we show that deficiency in OCRL1 causes a defect in endocytosis in the zebrafish pronephric tubule, a model for the mammalian renal tubule. Read More

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http://dx.doi.org/10.1371/journal.pgen.1005058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383555PMC
April 2015
3 Reads

PIPs in neurological diseases.

Authors:
Mark G Waugh

Biochim Biophys Acta 2015 Aug 11;1851(8):1066-82. Epub 2015 Feb 11.

Lipid and Membrane Biology Group, Institute for Liver and Digestive Health, UCL, Royal Free Campus, Rowland Hill Street, London NW3 2PF, United Kingdom. Electronic address:

Phosphoinositide (PIP) lipids regulate many aspects of cell function in the nervous system including receptor signalling, secretion, endocytosis, migration and survival. Levels of PIPs such as PI4P, PI(4,5)P2 and PI(3,4,5)P3 are normally tightly regulated by phosphoinositide kinases and phosphatases. Deregulation of these biochemical pathways leads to lipid imbalances, usually on intracellular endosomal membranes, and these changes have been linked to a number of major neurological diseases including Alzheimer's, Parkinson's, epilepsy, stroke, cancer and a range of rarer inherited disorders including brain overgrowth syndromes, Charcot-Marie-Tooth neuropathies and neurodevelopmental conditions such as Lowe's syndrome. Read More

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http://dx.doi.org/10.1016/j.bbalip.2015.02.002DOI Listing
August 2015
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Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

Pediatr Nephrol 2015 Jun 6;30(6):931-43. Epub 2014 Dec 6.

Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.

Background: The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disorder, almost always characterized by the triad of congenital cataract, cognitive and behavioral impairment and a proximal tubulopathy.

Methods: Twenty-eight novel patients with suspected Lowe syndrome were studied.

Results: All patients carried OCRL gene defects with mutational hot spots at CpG dinucleotides. Read More

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http://dx.doi.org/10.1007/s00467-014-3013-2DOI Listing
June 2015
32 Reads

Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe.

J Radiol Case Rep 2014 Oct 31;8(10):1-7. Epub 2014 Oct 31.

Department of Neuroradiology, Boston Children's Hospital, Boston, USA.

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, hypotonia, and cognitive developmental delay with renal complications developing in the first few months of life. Clinical and laboratory findings of Lowe syndrome are well documented. Though a small number of case reports describe the neuroimaging features and the renal ultrasound manifestations of this disease, a comprehensive review of all the imaging manifestations has not been reported. Read More

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http://dx.doi.org/10.3941/jrcr.v8i10.1740DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4242147PMC
October 2014
4 Reads

[Hereditary cerebro-oculo-renal syndromes].

Ugeskr Laeger 2014 Feb;176(8A):V07130452

Nefrologisk klinik P, Rigshospitalet, Blegdamsvej 9, 2100 København Ø.

Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure. Read More

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February 2014
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OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.

Hum Mol Genet 2015 Feb 9;24(4):994-1006. Epub 2014 Oct 9.

INSERM U1016, Institut Cochin, Paris, France, CNRS UMR8104, Paris, France, Université Paris Descartes, Paris, France,

OCRL mutations are associated with both Lowe syndrome and Dent-2 disease, two rare X-linked conditions. Lowe syndrome is an oculo-cerebro-renal disorder, whereas Dent-2 patients mainly present renal proximal tubulopathy. Loss of OCRL-1, a phosphoinositide-5-phosphatase, leads in Lowe patients' fibroblasts to phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2) accumulation, with defects in F-actin network, α-actinin distribution and ciliogenesis, whereas fibroblasts of Dent-2 patients are still uncharacterized. Read More

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http://hmg.oxfordjournals.org/content/early/2014/10/16/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu514
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http://dx.doi.org/10.1093/hmg/ddu514DOI Listing
February 2015
46 Reads

Novel mutation of OCRL1 in Lowe syndrome.

Indian J Pediatr 2015 Jan 10;82(1):89-92. Epub 2014 Oct 10.

Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, 510080, People's Republic of China.

Lowe syndrome is a rare, X-linked recessive genetic disease with multi-organ involvement. The pathogenic gene is OCRL1. The authors analyzed the OCRL1 mutation and summarized the clinical features of a Chinese child with Lowe syndrome. Read More

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http://dx.doi.org/10.1007/s12098-014-1581-6DOI Listing
January 2015
4 Reads

The structure of phosphoinositide phosphatases: Insights into substrate specificity and catalysis.

Biochim Biophys Acta 2015 Jun 28;1851(6):698-710. Epub 2014 Sep 28.

Weill Institute for Cell and Molecular Biology and Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853, USA. Electronic address:

Phosphoinositides (PIs) are a group of key signaling and structural lipid molecules involved in a myriad of cellular processes. PI phosphatases, together with PI kinases, are responsible for the conversion of PIs between distinctive phosphorylation states. PI phosphatases are a large collection of enzymes that are evolved from at least two disparate ancestors. Read More

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http://dx.doi.org/10.1016/j.bbalip.2014.09.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377127PMC
June 2015
3 Reads

Clinical utility gene card for: Lowe syndrome.

Eur J Hum Genet 2015 Jun 3;23(6). Epub 2014 Sep 3.

Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795061PMC
June 2015
4 Reads

Primary cilia signaling mediates intraocular pressure sensation.

Proc Natl Acad Sci U S A 2014 Sep 20;111(35):12871-6. Epub 2014 Aug 20.

Glick Eye Institute, Indiana University School of Medicine, Indianapolis, IN 46202; Department of Ophthalmology, Department of Biochemistry and Molecular Biology, Department of Dermatology, and

Lowe syndrome is a rare X-linked congenital disease that presents with congenital cataracts and glaucoma, as well as renal and cerebral dysfunction. OCRL, an inositol polyphosphate 5-phosphatase, is mutated in Lowe syndrome. We previously showed that OCRL is involved in vesicular trafficking to the primary cilium. Read More

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http://dx.doi.org/10.1073/pnas.1323292111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4156748PMC
September 2014
9 Reads

A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.

Elife 2014 Aug 8;3:e02975. Epub 2014 Aug 8.

Department of Cell Biology, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, United States.

Mutations in the inositol 5-phosphatase OCRL cause Lowe syndrome and Dent's disease. Although OCRL, a direct clathrin interactor, is recruited to late-stage clathrin-coated pits, clinical manifestations have been primarily attributed to intracellular sorting defects. Here we show that OCRL loss in Lowe syndrome patient fibroblasts impacts clathrin-mediated endocytosis and results in an endocytic defect. Read More

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http://dx.doi.org/10.7554/eLife.02975DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4358339PMC
August 2014
35 Reads

Muscle involvement in Dent disease 2.

Pediatr Nephrol 2014 Nov 7;29(11):2127-32. Epub 2014 Jun 7.

Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea.

Background: Dent disease, an X-linked recessive renal tubulopathy, is caused by mutations in either CLCN5 (Dent disease 1) or OCRL (Dent disease 2). OCRL mutations can also cause Lowe syndrome. In some cases it is difficult to differentiate Dent disease 1 and 2 on the basis of clinical features only without genetic tests. Read More

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http://link.springer.com/content/pdf/10.1007/s00467-014-2841
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http://link.springer.com/10.1007/s00467-014-2841-4
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http://dx.doi.org/10.1007/s00467-014-2841-4DOI Listing
November 2014
17 Reads

Lowe syndrome: a single center's experience in Korea.

Korean J Pediatr 2014 Mar 31;57(3):140-8. Epub 2014 Mar 31.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. ; Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. Read More

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http://dx.doi.org/10.3345/kjp.2014.57.3.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000760PMC
March 2014
2 Reads

[Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe].

Zhongguo Dang Dai Er Ke Za Zhi 2014 Apr;16(4):366-9

Department of Pediatrics, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China.

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked recessive disorder. This study investigated the history of a Chinese family with OCRL and used direct DNA sequencing to screen all exons of OCRL gene for mutations. A missense mutation (1736 A→G) in exon 15 was revealed, which resulted in the change of His (H) 507 to Arg (R). Read More

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April 2014
4 Reads