(Q38061994)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23176487%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

review article

1 reference

title

RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23176487%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23176487%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Irene A Aligianis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23176487%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

publication date

1 December 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23176487%20AND%20SRC:MED&resulttype=core&format=json

Biochemical Society Transactions

18 February 2020

published in

1 reference

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18 February 2020

volume

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18 February 2020

issue

1 reference

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18 February 2020

page(s)

1394-1397

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23176487%20AND%20SRC:MED&resulttype=core&format=json

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

18 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Warburg Micro syndrome in a Turkish boy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

MICRO syndrome: an entity distinct from COFS syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Martsolf syndrome in Japanese siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Elevated gene expression levels distinguish human from non-human primate brains

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Thousands of rab GTPases for the cell biologist

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Rab3-GAP Controls the Progression of Synaptic Homeostasis at a Late Stage of Vesicle Release

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Role of rab GDP dissociation inhibitor alpha in regulating plasticity of hippocampal neurotransmission

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Rabconnectin-3, a novel protein that binds both GDP/GTP exchange protein and GTPase-activating protein for Rab3 small G protein family

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

The vacuolar proton pump, V-ATPase, is required for notch signaling and endosomal trafficking in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Identifying true protein complex constituents in interaction proteomics: the example of the DMXL2 protein complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Evolution of the Rab family of small GTP-binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Application of phylogenetic algorithms to assess Rab functional relationships

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

The complexity of the Rab and Rho GTP-binding protein subfamilies revealed by a PCR cloning approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Gene cloning and characterization of a GTP-binding Rab protein from mouse pituitary AtT-20 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Rab18 and Rab43 have key roles in ER-Golgi trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Live Salmonella modulate expression of Rab proteins to persist in a specialized compartment and escape transport to lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

An isoform of Arabidopsis myosin XI interacts with small GTPases in its C-terminal tail region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Regulated localization of Rab18 to lipid droplets: effects of lipolytic stimulation and inhibition of lipid droplet catabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Rab18 localizes to lipid droplets and induces their close apposition to the endoplasmic reticulum-derived membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Rab18 inhibits secretory activity in neuroendocrine cells by interacting with secretory granules

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Isolation and characterisation of the human rab18 gene after stimulation of endothelial cells with histamine

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Rab18 dynamics in adipocytes in relation to lipogenesis, lipolysis and obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

Characterization of the brain proteome of rats with diabetes mellitus through two-dimensional electrophoresis and mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

A Rab GAP cascade defines the boundary between two Rab GTPases on the secretory pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

A complete genetic analysis of neuronal Rab3 function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120169

21 January 2018

Identifiers

DOI

10.1042/BST20120169

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23176487%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23176487%20AND%20SRC:MED&resulttype=core&format=json