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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

Papers overview

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Review
2014
Review
2014
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
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 (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe… Expand
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Highly Cited
2011
Highly Cited
2011
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
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
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
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
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
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
The Saccharomyces cerevisiae FAB1 gene encodes the sole phosphatidylinositol 3-phosphate [PtdIns(3)P] 5-kinase responsible for… Expand
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