Hermansky-Pudlak syndrome and related disorders of organelle formation (Q34156519)

31 July 2017

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title

Hermansky-Pudlak syndrome and related disorders of organelle formation (English)

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Hermansky-Pudlak syndrome

31 July 2017

main subject

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Huizing M

1

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31 July 2017

Anikster Y

series ordinal

2

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31 July 2017

Gahl WA

series ordinal

3

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31 July 2017

publication date

1 November 2000

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31 July 2017

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31 July 2017

volume

1

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31 July 2017

issue

11

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31 July 2017

page(s)

823-835

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

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Platelet von Willebrand factor in Hermansky-Pudlak syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Hermansky-Pudlak syndrome with granulomatous colitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Hermansky-Pudlak syndrome: an immunologic assessment of 15 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction. A case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

A perfect message: RNA surveillance and nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Nonsense-mediated mRNA decay in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Identification of the homologous beige and Chediak-Higashi syndrome genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Assembly, target-signaling and intracellular transport of tyrosinase gene family proteins in the initial stage of melanosome biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Coat proteins and vesicle budding

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Association of the AP-3 adaptor complex with clathrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

A novel adaptor-related protein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Trafficking of major histocompatibility complex class II molecules in human B-lymphoblasts deficient in the AP-3 adaptor complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Syntaxin 13 mediates cycling of plasma membrane proteins via tubulovesicular recycling endosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

The diversity of Rab proteins in vesicle transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Formation of AP-3 transport intermediates requires Vps41 function

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

A novel RING finger protein complex essential for a late step in protein transport to the yeast vacuole

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Protein transport to the yeast vacuole

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Analysis of the lysosomal storage disease Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Molecular basis of congenital hypopigmentary disorders in humans: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Identification of the murine beige gene by YAC complementation and positional cloning

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

A syndrome associating partial albinism and immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Novel myosin heavy chain encoded by murine dilute coat colour locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Myosin-V is a processive actin-based motor

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Localization of myosin-V in the centrosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

arg-cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Rab GTPases: master regulators of membrane trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Interaction of a Golgi-associated kinesin-like protein with Rab6

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

A new oculocerebral syndrome with hypopigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Cloning and characterization of the human choroideremia gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Platelets of the Wistar Furth rat have reduced levels of alpha-granule proteins. An animal model resembling gray platelet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

Hermansky-Pudlak syndrome: models for intracellular vesicle formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Mouse models of Hermansky Pudlak syndrome: a review

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Hermansky-Pudlak syndrome. Ophthalmic findings

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

The Hermansky-Pudlak syndrome. Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Synergistic effect of storage pool deficient platelets and low plasma von Willebrand factor on the severity of the hemorrhagic diathesis in Hermansky-Pudlak syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Hermansky-Pudlak syndrome with granulomatous colitis in children

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Structural determinants of interaction of tyrosine-based sorting signals with the adaptor medium chains

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Giant granules of neutrophils in Chediak-Higashi syndrome are derived from azurophil granules but not from specific and gelatinase granules

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Gray platelet syndrome. A variety of qualitative platelet disorder

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

Wistar Furth rat megakaryocytes lack dense compartments and intercellular plaques, membranous structures rich in cytoskeletal proteins

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011103.X

7 January 2021

10.1034/J.1600-0854.2000.011103.X

Identifiers

DOI

1 reference

31 July 2017

1 reference