(Q24631638)

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Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

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Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) (English)

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Dystrobrevin binding protein 1

1 reference

GOA release 2020-03-11

Biogenesis of lysosomal organelles complex-1, subunit 5, muted

1 reference

GOA release 2020-03-11

Biogenesis of lysosomal organelles complex-1, subunit 6, pallidin

1 reference

GOA release 2020-03-11

Dystrobrevin, beta

1 reference

GOA release 2020-03-11

Hermansky-Pudlak syndrome

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based on heuristic

inferred from title

Stephen F Kingsmore

object named as

Stephen F Kingsmore

18

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Neal G. Copeland

10

object named as

Neal G Copeland

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Nancy A. Jenkins

11

object named as

Nancy A Jenkins

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Richard A Spritz

9

object named as

Richard A Spritz

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author name string

Wei Li

1

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Qing Zhang

2

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Naoki Oiso

3

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Edward K Novak

4

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Rashi Gautam

5

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Edward P O'Brien

6

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Caroline L Tinsley

7

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Derek J Blake

8

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Dominick Amato

12

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Bruce A Roe

13

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Marta Starcevic

14

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Esteban C Dell'Angelica

15

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Rosemary W Elliott

16

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Vishnu Mishra

17

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Richard E Paylor

19

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Richard T Swank

20

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language of work or name

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publication date

September 2003

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Nature Genetics

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35

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84-9

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1

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

Different dystrophin-like complexes are expressed in neurons and glia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

7 April 2017

Support for association of schizophrenia with genetic variation in the 6p22.3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

27 September 2017

Function and genetics of dystrophin and dystrophin-related proteins in muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

27 September 2017

Lysosome-related organelles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

27 September 2017

Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

27 September 2017

Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860733

28 November 2018

Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking

1 reference

https://pubmed.ncbi.nlm.nih.gov/12923531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immature dense granules in platelets from mice with platelet storage pool disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12923531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sandy: a new mouse model for platelet storage pool deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/12923531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mouse models of Hermansky Pudlak syndrome: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/12923531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1229

7 January 2021

based on heuristic

inferred from DOI database lookup

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1 reference

Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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