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FIG4 gene

Known as: CMT4J, SAC DOMAIN-CONTAINING INOSITOL PHOSPHATASE 3, hSac3 
This gene plays a role in the metabolism of polyphosphoinositides.
National Institutes of Health

Related topics

Related topics

4 relations
DephosphorylationHydrolysisPhospholipid Metabolismpolyphosphoinositide phosphatase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Phosphatidylinositol 3,5‐bisphosphate: Low abundance, high significance
Recent studies of the low abundant signaling lipid, phosphatidylinositol 3,5‐bisphosphate (PI(3,5)P2), reveal an intriguingly… Expand
Highly Cited
2014
Highly Cited
2014
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
Objective: The aim of this study was to identify the causal gene in a consanguineous Moroccan family with temporo-occipital… Expand
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Highly Cited
2013
Highly Cited
2013
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe… Expand
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Highly Cited
2011
Highly Cited
2011
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
Charcot-Marie-Tooth disease is a genetically heterogeneous group of motor and sensory neuropathies associated with mutations in… Expand
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Highly Cited
2011
Highly Cited
2011
Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies
We previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin… Expand
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Highly Cited
2009
Highly Cited
2009
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P(2) are responsible for the recessive peripheral-nerve disorder… Expand
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Highly Cited
2008
Highly Cited
2008
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
Recessive Charcot-Marie-Tooth disease type-4J (CMT4J) and its animal model, the pale tremor mouse (plt), are caused by mutations… Expand
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Highly Cited
2007
Highly Cited
2007
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
Membrane-bound phosphoinositides are signalling molecules that have a key role in vesicle trafficking in eukaryotic cells… Expand
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Highly Cited
2004
Highly Cited
2004
Vacuole size control: regulation of PtdIns(3,5)P2 levels by the vacuole-associated Vac14-Fig4 complex, a PtdIns(3,5)P2-specific phosphatase.
In the budding yeast Saccharomyces cerevisiae, phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) is synthesized by a single… Expand
Highly Cited
2002
Highly Cited
2002
Regulation of Fab1 phosphatidylinositol 3-phosphate 5-kinase pathway by Vac7 protein and Fig4, a polyphosphoinositide phosphatase family member.
The Saccharomyces cerevisiae FAB1 gene encodes the sole phosphatidylinositol 3-phosphate [PtdIns(3)P] 5-kinase responsible for… Expand
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