Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6 (Q28585075)

31 January 2017

title

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6 (English)

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Gene Ontology release 2020-05-02

31 January 2017

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Gene Ontology ID

GO:0031084

HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

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HPS6, biogenesis of lysosomal organelles complex 2 subunit 3

GOA release 2020-03-11

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Hermansky-Pudlak syndrome

GOA release 2020-03-11

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Ping Liang

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Neal G. Copeland

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31 January 2017

Nancy A. Jenkins

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31 January 2017

Richard A. Spritz

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31 January 2017

Naoki Oiso

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31 January 2017

Qing Zhang

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31 January 2017

Baohui Zhao

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31 January 2017

Wei Li

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31 January 2017

Edward K. Novak

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31 January 2017

Michael E. Rusiniak

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31 January 2017

Rashi Gautam

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31 January 2017

Sreenivasulu Chintala

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31 January 2017

Edward P. O'Brien

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31 January 2017

Yuke Zhang

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31 January 2017

Bruce A. Roe

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31 January 2017

Rosemary W. Elliott

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31 January 2017

Eva M. Eicher

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31 January 2017

Christian Kratz

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31 January 2017

Eric Legius

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31 January 2017

T. Norene O'Sullivan

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31 January 2017

Richard T. Swank

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31 January 2017

language of work or name

English

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publication date

1 February 2003

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31 January 2017

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31 January 2017

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31 January 2017

page(s)

145–153

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Multi-organellar disorders of pigmentation: tied up in traffic

31 January 2017

cites work

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7 January 2021

The mouse pale ear ( ep ) mutation is the homologue of human Hermansky–Pudlak syndrome

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7 January 2021

Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron

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7 January 2021

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

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7 January 2021

The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

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7 January 2021

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

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7 January 2021

The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene

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7 January 2021

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

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7 January 2021

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

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7 January 2021

Mouse models of Hermansky Pudlak syndrome: a review

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7 January 2021

Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome

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7 January 2021

A New Eye Color Mutant in the Mouse with Asymmetrical Expression

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7 January 2021

Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon

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7 January 2021

A fusion pore phenotype in mast cells of the ruby-eye mouse

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7 January 2021

Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm

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7 January 2021

The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking

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7 January 2021

Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles

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7 January 2021

Adaptor-related proteins

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7 January 2021

Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis

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7 January 2021

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

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7 January 2021

Rab27a is an essential component of melanosome receptor for myosin Va

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7 January 2021

A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport

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7 January 2021

The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain

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7 January 2021

The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background

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7 January 2021

The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency

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7 January 2021

BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules

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7 January 2021

Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles

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7 January 2021

Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles

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7 January 2021

The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes

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7 January 2021

Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains

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7 January 2021

Subcellular distribution of 3 functional platelet SNARE proteins: human cellubrevin, SNAP-23, and syntaxin 2.

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7 January 2021

Identifiers

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Dimensions Publication ID

31 January 2017

1032582247

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