Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Paris, France. In Hum Mutat, Aug 2015
Two genetic subtypes have been described to date: Dent disease 1 is caused by mutations of the CLCN5 gene, coding for the chloride/proton exchanger ClC-5; and Dent disease 2 by mutations of the OCRL gene, coding for the inositol polyphosphate 5-phosphatase OCRL-1.
PGC-1α provides a transcriptional framework for synchronous neurotransmitter release from parvalbumin-positive interneurons.
Birmingham, United States. In J Neurosci, 2014
We observed bidirectional regulation of novel PGC-1α-dependent transcripts spanning synaptic [synaptotagmin 2 (Syt2) and complexin 1 (Cplx1)], structural [neurofilament heavy chain (Nefh)], and metabolic [neutral cholesterol ester hydrolase 1 (Nceh1), adenylate kinase 1 (Ak1), inositol polyphosphate 5-phosphatase J (Inpp5j), ATP synthase mitochondrial F1 complex O subunit (Atp5o), phytanol-CoA-2hydroxylase (Phyh), and ATP synthase mitrochondrial F1 complex α subunit 1 (Atp5a1)] functions.
The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease.
Australia. In Biochem J, 2009
Futhermore, the 5-ptases SHIP [SH2 (Src homology 2)-domain-containing inositol phosphatase] 2, SKIP (skeletal muscle- and kidney-enriched inositol phosphatase) and 72-5ptase (72 kDa 5-ptase)/Type IV/Inpp5e (inositol polyphosphate 5-phosphatase E) are implicated in negatively regulating insulin signalling and glucose homoeostasis in specific tissues.
Seattle, United States. In Unknown Journal, 2001
DIAGNOSIS/TESTING: Lowe syndrome is caused by markedly reduced activity of an inositol polyphosphate 5-phosphatase OCRL-1, which is encoded by OCRL.