The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene (Q47070456)

4 January 2018

title

The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene (English)

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4 January 2018

Hermansky-Pudlak syndrome 5

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GOA release 2020-03-11

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based on heuristic

inferred from title

Hermansky-Pudlak syndrome

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Monika Syrzycka

1

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Lori A McEachern

2

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Jennifer Kinneard

3

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Kristel Prabhu

4

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Kathleen Fitzpatrick

5

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Sandra Schulze

6

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John M Rawls

7

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Vett K Lloyd

8

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Donald A R Sinclair

9

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Barry M Honda

10

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publication date

1 June 2007

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4 January 2018

published in

Genome

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volume

50

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issue

6

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page(s)

548-556

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Genome-wide RNAi analysis of Caenorhabditis elegans fat regulatory genes

cites work

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Volatile general anesthetics reveal a neurobiological role for the white and brown genes of Drosophila melanogaster

21 January 2018

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Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)

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The building BLOC(k)s of lysosomes and related organelles

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

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The cell biology of Hermansky-Pudlak syndrome: recent advances

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Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6

21 January 2018

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The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).

21 January 2018

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The C. elegans cell lineage and differentiation gene unc-86 encodes a protein with a homeodomain and extended similarity to transcription factors

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FlyBase: anatomical data, images and queries

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Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes

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Hermansky-Pudlak syndrome: vesicle formation from yeast to man.

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Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2

21 January 2018

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Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

21 January 2018

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

21 January 2018

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The white gene as a marker in a new P-element vector for gene transfer in Drosophila

21 January 2018

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ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport

21 January 2018

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Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles

21 January 2018

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Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery.

21 January 2018

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A genetic and molecular characterization of the garnet gene of Drosophila melanogaster

21 January 2018

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Enhancer of garnet/deltaAP-3 is a cryptic allele of the white gene and identifies the intracellular transport system for the white protein

21 January 2018

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Mutation of melanosome protein RAB38 in chocolate mice

21 January 2018

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Mutations in the white gene of Drosophila melanogaster affecting ABC transporters that determine eye colouration

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Defective expression of the mu3 subunit of the AP-3 adaptor complex in the Drosophila pigmentation mutant carmine

21 January 2018

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Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes.

21 January 2018

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Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein

21 January 2018

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The AP-3 complex: a coat of many colours

21 January 2018

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Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet

21 January 2018

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A role for the deep orange and carnation eye color genes in lysosomal delivery in Drosophila

21 January 2018

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Molecular characterization of the deep orange (dor) gene of Drosophila melanogaster

21 January 2018

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Characterization of the adaptor-related protein complex, AP-3

21 January 2018

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Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)

21 January 2018

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Transport defects as the physiological basis for eye color mutants of Drosophila melanogaster

21 January 2018

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The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation

21 January 2018

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Vectors for Drosophila P-element-mediated transformation and tissue culture transfection.

21 January 2018

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Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function

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Misexpression of the white (w) gene triggers male-male courtship in Drosophila

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1139/G07-032

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4 January 2018

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4 January 2018