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RAB3GAP1 gene

Known as: RAB3GAP, 130-KD SUBUNIT, RAB3 GTPase activating protein catalytic subunit 1, RAB3GAP, CATALYTIC SUBUNIT 
 
National Institutes of Health

Papers overview

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2017
2017
The RAB GTPase RAB18 modulates macroautophagy and proteostasis.
Macroautophagy is a conserved degradative pathway and its deterioration is linked to disturbances in cellular proteostasis and… Expand
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2016
2016
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome
BACKGROUND Warburg Micro syndrome (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation… Expand
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2015
2015
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation
RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder… Expand
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Review
2015
Review
2015
The integration of autophagy and cellular trafficking pathways via RAB GAPs
Macroautophagy is a conserved degradative pathway in which a double-membrane compartment sequesters cytoplasmic cargo and… Expand
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2014
2014
RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy
Macroautophagy is a degradative pathway that sequesters and transports cytosolic cargo in autophagosomes to lysosomes, and its… Expand
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Highly Cited
2014
Highly Cited
2014
Rab18 and a Rab18 GEF complex are required for normal ER structure
The Rab3GAP complex that is mutated in the neurological disorder Micro syndrome is a guanine nucleotide exchange factor that… Expand
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2014
2014
VAP-B binds to Rab3GAP1 at the ER: its implication in nuclear envelope formation through the ER-Golgi intermediate compartment.
The vesicle-associated membrane protein-associated protein B (VAP-B) is a tail-anchored protein in the endoplasmic reticulum (ER… Expand
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Highly Cited
2011
Highly Cited
2011
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental disorders characterized by brain… Expand
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2010
2010
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
Warburg Micro syndrome and Martsolf syndrome are clinically overlapping autosomal recessive conditions characterized by… Expand
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Highly Cited
2005
Highly Cited
2005
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye… Expand
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