FAQ

FIG4 gene

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

Topic mentions per year

Topic mentions per year

1989-2017
051019892017

Related topics

Related topics

4 relations
DephosphorylationHydrolysisPhospholipid Metabolismpolyphosphoinositide phosphatase

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
FIG4 gene
Hydrolysis
Dephosphorylation
Phospholipid Metabolism
polyphosphoinositide phosphatase

Papers overview

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2014
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… (More)
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2011
2011
Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.
Loss of function of the FIG4 gene causes Charcot-Marie-Tooth disease (CMT)-4J with many features also found in motor neuron… (More)
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2011
2011
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)Pâ‚‚ phosphatase FIG4.
Charcot-Marie-Tooth disease is a genetically heterogeneous group of motor and sensory neuropathies associated with mutations in… (More)
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2011
2011
Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J
CMT4J is a severe form of Charcot-Marie-Tooth neuropathy caused by mutation of the phosphoinositide phosphatase FIG4/SAC3… (More)
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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… (More)
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2008
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… (More)
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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… (More)
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2003
2003
Sac3 is an mRNA export factor that localizes to cytoplasmic fibrils of nuclear pore complex.
In eukaryotes, mRNAs are transcribed in the nucleus and exported to the cytoplasm for translation to occur. Messenger RNAs… (More)
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2002
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… (More)
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Highly Cited
1998
Highly Cited
1998
Pheromone-regulated Genes Required for Yeast Mating Differentiation
Yeast cells mate by an inducible pathway that involves agglutination, mating projection formation, cell fusion, and nuclear… (More)
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