Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene (Q22011036)

GOA release 2020-03-11

lysosome organization

1 reference

Hermansky-Pudlak syndrome

GOA release 2020-03-11

1 reference

E C Dell'Angelica

1

E C

Dell'Angelica

1 reference

7 February 2023

R C Aguilar

2

R C

Aguilar

1 reference

7 February 2023

N Wolins

3

N

Wolins

1 reference

7 February 2023

S Hazelwood

4

S

Hazelwood

1 reference

7 February 2023

W A Gahl

5

W A

Gahl

1 reference

7 February 2023

J S Bonifacino

6

J S

Journal of Biological Chemistry

Bonifacino

1 reference

7 February 2023

language of work or name

English

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publication date

14 January 2000

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published in

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volume

275

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page(s)

1300-6

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issue

2

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cites work

The optokinetic nystagmus and ocular pigmentation of hypopigmented mouse mutants

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Hermansky-Pudlak syndrome: models for intracellular vesicle formation

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A simple method for displaying the hydropathic character of a protein

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A novel di-leucine motif and a tyrosine-based motif independently mediate lysosomal targeting and endocytosis of CD3 chains

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7 January 2021

A function for the AP3 coat complex in synaptic vesicle formation from endosomes

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Clathrin and adaptors

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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

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Synaptic vesicle endocytosis

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7 January 2021

The AP-3 complex: a coat of many colours

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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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Multi-organellar disorders of pigmentation: tied up in traffic

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Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis

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

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Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico

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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

Beta3A-adaptin, a subunit of the adaptor-like complex AP-3

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The mammalian AP-3 adaptor-like complex mediates the intracellular transport of lysosomal membrane glycoproteins.

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7 January 2021

AP-4, a novel protein complex related to clathrin adaptors

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7 January 2021

A novel adaptor-related protein complex

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7 January 2021

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

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7 January 2021

ADP-Ribosylation factor 1 (ARF1) regulates recruitment of the AP-3 adaptor complex to membranes.

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7 January 2021

Molecular bases for the recognition of tyrosine-based sorting signals

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Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome

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Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity

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7 January 2021

AP-3: an adaptor-like protein complex with ubiquitous expression

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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

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

Mouse models of Hermansky Pudlak syndrome: a review

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7 January 2021

Association of the AP-3 adaptor complex with clathrin

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Identifying nonpolar transbilayer helices in amino acid sequences of membrane proteins

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7 January 2021

Clathrin-coated vesicle formation and protein sorting: an integrated process

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7 January 2021