Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome (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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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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Jean-Marie Naeyaert

9

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Jean-Paul Ortonne

10

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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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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

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

21 January 2018

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Novel myosin heavy chain encoded by murine dilute coat colour locus

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Direct interaction of microtubule- and actin-based transport motors

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Identification of an organelle receptor for myosin-Va

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The melanosome: membrane dynamics in black and white

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Rab27a is an essential component of melanosome receptor for myosin Va

21 January 2018

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Rab27a: A key to melanosome transport in human melanocytes

21 January 2018

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Rab27a regulates the peripheral distribution of melanosomes in melanocytes

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

1 reference

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'Rab'ing up endosomal membrane transport

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1074/JBC.M211996200

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31 July 2017

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