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FIG4 gene
Known as:
CMT4J
, SAC DOMAIN-CONTAINING INOSITOL PHOSPHATASE 3
, hSac3
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This gene plays a role in the metabolism of polyphosphoinositides.
National Institutes of Health
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Related topics
Related topics
4 relations
Dephosphorylation
Hydrolysis
Phospholipid Metabolism
polyphosphoinositide 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
Amber J. McCartney
,
Yanling Zhang
,
L. Weisman
Bioessays
2014
Corpus ID: 46180295
Recent studies of the low abundant signaling lipid, phosphatidylinositol 3,5‐bisphosphate (PI(3,5)P2), reveal an intriguingly…
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Highly Cited
2014
Highly Cited
2014
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
S. Baulac
,
G. Lenk
,
+14 authors
E. Leguern
Neurology
2014
Corpus ID: 11421194
Objective: The aim of this study was to identify the causal gene in a consanguineous Moroccan family with temporo-occipital…
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Highly Cited
2013
Highly Cited
2013
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
Philippe M. Campeau
,
G. Lenk
,
+13 authors
Brendan H. Lee
American Journal of Human Genetics
2013
Corpus ID: 31622309
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.
G. Nicholson
,
G. Lenk
,
+13 authors
M. Meisler
Brain : a journal of neurology
2011
Corpus ID: 206359844
Charcot-Marie-Tooth disease is a genetically heterogeneous group of motor and sensory neuropathies associated with mutations in…
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Highly Cited
2011
Highly Cited
2011
Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies
I. Vaccari
,
G. Dina
,
+9 authors
A. Bolino
PLoS Genetics
2011
Corpus ID: 6243460
We previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin…
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Highly Cited
2009
Highly Cited
2009
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
C. Y. Chow
,
J. Landers
,
+10 authors
M. Meisler
American Journal of Human Genetics
2009
Corpus ID: 41025931
Highly Cited
2008
Highly Cited
2008
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
Xuebao Zhang
,
C. Y. Chow
,
Z. Sahenk
,
M. Shy
,
M. Meisler
,
Jun Li
Brain : a journal of neurology
2008
Corpus ID: 24270995
Recessive Charcot-Marie-Tooth disease type-4J (CMT4J) and its animal model, the pale tremor mouse (plt), are caused by mutations…
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Highly Cited
2007
Highly Cited
2007
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
C. Y. Chow
,
Yanling Zhang
,
+10 authors
M. Meisler
Nature
2007
Corpus ID: 4318210
Membrane-bound phosphoinositides are signalling molecules that have a key role in vesicle trafficking in eukaryotic cells…
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Highly Cited
2003
Highly Cited
2003
Vacuole size control: regulation of PtdIns(3,5)P2 levels by the vacuole-associated Vac14-Fig4 complex, a PtdIns(3,5)P2-specific phosphatase.
S. Rudge
,
Deborah M Anderson
,
S. Emr
Molecular Biology of the Cell
2003
Corpus ID: 21466422
In the budding yeast Saccharomyces cerevisiae, phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) is synthesized by a single…
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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.
J. Gary
,
Trey K. Sato
,
C. Stefan
,
C. J. Bonangelino
,
L. Weisman
,
S. Emr
Molecular Biology of the Cell
2002
Corpus ID: 9410673
The Saccharomyces cerevisiae FAB1 gene encodes the sole phosphatidylinositol 3-phosphate [PtdIns(3)P] 5-kinase responsible for…
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