(Q34171093)

31 July 2017

title

Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome (English)

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31 July 2017

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3

Christine Chiaverini

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31 July 2017

Philippe Bahadoran

1

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31 July 2017

Roser Busca

2

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31 July 2017

Wendy Westbroek

4

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31 July 2017

Jo Lambert

5

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31 July 2017

Karine Bille

6

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31 July 2017

Gäelle Valony

7

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31 July 2017

Mitsunori Fukuda

8

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31 July 2017

Jean-Marie Naeyaert

9

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31 July 2017

Jean-Paul Ortonne

10

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31 July 2017

Robert Ballotti

11

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31 July 2017

language of work or name

English

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publication date

16 January 2003

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Journal of Biological Chemistry

31 July 2017

published in

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31 July 2017

volume

278

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31 July 2017

issue

13

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31 July 2017

page(s)

11386-11392

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

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/10.1074%2FJBC.M211996200

Novel myosin heavy chain encoded by murine dilute coat colour locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Direct interaction of microtubule- and actin-based transport motors

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M211996200

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M211996200

Identification of an organelle receptor for myosin-Va

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

The melanosome: membrane dynamics in black and white

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosin V function In vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Rab27a is an essential component of melanosome receptor for myosin Va

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Rab27a: A key to melanosome transport in human melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Rab27a regulates the peripheral distribution of melanosomes in melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Structural basis of Rab effector specificity: crystal structure of the small G protein Rab3A complexed with the effector domain of rabphilin-3A

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Structural plasticity of an invariant hydrophobic triad in the switch regions of Rab GTPases is a determinant of effector recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Interaction cloning of Rabin3, a novel protein that associates with the Ras-like GTPase Rab3A

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

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/10.1074%2FJBC.M211996200

Disruption of Rab3-calmodulin interaction, but not other effector interactions, prevents Rab3 inhibition of exocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Slac2-c (synaptotagmin-like protein homologue lacking C2 domains-c), a novel linker protein that interacts with Rab27, myosin Va/VIIa, and actin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Synaptotagmin-like protein (Slp) homology domain 1 of Slac2-a/melanophilin is a critical determinant of GTP-dependent specific binding to Rab27A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

Synaptotagmin-like protein 5: a novel Rab27A effector with C-terminal tandem C2 domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

'Rab'ing up endosomal membrane transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211996200

21 January 2018

Identifiers

DOI

10.1074/JBC.M211996200

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31 July 2017

1 reference