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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

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
The RAB GTPase RAB18 modulates macroautophagy and proteostasis.
2016
2016
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome
2016
2016
RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex
BackgroundLoss of function mutations in RAB18, has been identified in patients with the human neurological and developmental… 
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… 
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… 
Highly Cited
2014
Highly Cited
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… 
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… 
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… 
Highly Cited
2011
Highly Cited
2011
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
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… 
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