(Q28216578)

English

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

scientific article (publication date: February 2002)

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scholarly article

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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 (English)

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Hermansky-Pudlak syndrome

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based on heuristic

inferred from title

1

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author name string

Charles D Scher

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Erin Strovel

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Diana L Fitzpatrick

4

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Lisa M Hartnell

5

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Yair Anikster

6

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William A Gahl

7

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language of work or name

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publication date

February 2002

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Pediatric Research

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51

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2

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150-8

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https://scigraph.springernature.com/pub.10.1203/00006450-200202000-00006

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Hermansky-Pudlak syndrome and related disorders of organelle formation

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

Platelet dense granules: structure, function and implications for haemostasis.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

Coat proteins and vesicle budding

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

Association of the AP-3 adaptor complex with clathrin

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

Genomic structure of the mouse Ap3b1 gene in normal and pearl mice.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

Intracellular trafficking of lysosomal membrane proteins.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

Melanosomes are specialized members of the lysosomal lineage of organelles.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200202000-00006

21 January 2018

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10.1203/00006450-200202000-00006

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