Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A (Q24612570)

29 November 2023

Yair Anikster

Yair

Anikster

1 reference

29 November 2023

Paul D Anderson

Paul D

Anderson

1 reference

29 November 2023

Diana L Fitzpatrick

Diana L

Fitzpatrick

1 reference

29 November 2023

Aharon Klar

Aharon

Klar

1 reference

29 November 2023

Eva Gross-Kieselstein

Eva

Gross-Kieselstein

1 reference

29 November 2023

Yackov Berkun

Yackov

Berkun

1 reference

29 November 2023

Gila Shazberg

Gila

Shazberg

1 reference

29 November 2023

William A Gahl

William A

Gahl

1 reference

29 November 2023

Haggit Hurvitz

Haggit

Hurvitz

1 reference

American Journal of Human Genetics

29 November 2023

language of work or name

English

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publication date

August 2002

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published in

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volume

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issue

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page(s)

407-14

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cites work

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Myosin-V is a processive actin-based motor

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

7 April 2017

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Human myosin V gene produces different transcripts in a cell type-specific manner

7 April 2017

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Identification of an organelle receptor for myosin-Va

7 April 2017

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The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes

7 April 2017

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Rab27a regulates the peripheral distribution of melanosomes in melanocytes

7 April 2017

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Molecular genetic dissection of mouse unconventional myosin-VA: tail region mutations

7 April 2017

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A syndrome associating partial albinism and immunodeficiency

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

7 April 2017

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The Beige/Chediak-Higashi Syndrome Gene Encodes a Widely Expressed Cytosolic Protein

7 April 2017

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Novel myosin heavy chain encoded by murine dilute coat colour locus

7 April 2017

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Rab GTPases: specifying and deciphering organelle identity and function

7 April 2017

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

7 April 2017

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The diversity of Rab proteins in vesicle transport

7 April 2017

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Melanophilin, the product of the leaden locus, is required for targeting of myosin-Va to melanosomes

7 April 2017

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The dilute locus and Griscelli syndrome: gateways towards a better understanding of melanosome transport

27 September 2017

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Rab27a enables myosin Va-dependent melanosome capture by recruiting the myosin to the organelle.

27 September 2017

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Analysis of the lysosomal storage disease Chediak-Higashi syndrome

27 September 2017

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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Cloning, mapping and characterization of the human RAB27A gene.

27 September 2017

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

27 September 2017

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Autosomal recessive diseases among Palestinian Arabs

27 September 2017

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

27 September 2017

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Identification of the homologous beige and Chediak-Higashi syndrome genes

27 September 2017

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Evidence that abnormal platelet functions in human Chédiak-Higashi syndrome are the result of a lack of dense bodies

27 September 2017

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The murine dilute suppressor gene dsu suppresses the coat-color phenotype of three pigment mutations that alter melanocyte morphology, d, ash and ln

27 September 2017

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

27 September 2017

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30 May 2018

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rab GTP-binding proteins with three different carboxyl-terminal cysteine motifs are modified in vivo by 20-carbon isoprenoids

30 May 2018

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Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease

30 May 2018

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Rab27a is required for regulated secretion in cytotoxic T lymphocytes

30 May 2018

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An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder).

28 November 2018

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Partial albinism with immunodeficiency (Griscelli syndrome)

28 November 2018

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12 December 2020

Griscelli syndrome: report of three cases

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12 December 2020

Mouse models of Hermansky Pudlak syndrome: a review

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12 December 2020

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

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12 December 2020

A kindred with Griscelli disease: spectrum of neurological involvement

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12 December 2020

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

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12 December 2020

Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village

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12 December 2020

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