(Q38912328)

7 September 2017

title

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation (English)

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Distal hereditary motor neuropathies

7 September 2017

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Michael Gurevich

9

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Anat Achiron

7

object named as

Anat Achiron

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7 September 2017

Sergiu C Blumen

1

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7 September 2017

Stéphanie Astord

2

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7 September 2017

Valérie Robin

3

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7 September 2017

Ludivine Vignaud

4

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7 September 2017

Nawel Toumi

5

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7 September 2017

Aurore Cieslik

6

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7 September 2017

Ralph L Carasso

8

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Itzhak Braverman

10

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7 September 2017

Nava Blumen

11

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7 September 2017

Arnold Munich

12

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Martine Barkats

13

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Louis Viollet

14

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7 September 2017

publication date

1 April 2012

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7 September 2017

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7 September 2017

volume

71

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7 September 2017

issue

4

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7 September 2017

page(s)

509-519

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Unraveling the genetics of distal hereditary motor neuronopathies

7 September 2017

cites work

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Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies

21 January 2018

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Hsp40 molecules that target to the ubiquitin-proteasome system decrease inclusion formation in models of polyglutamine disease

21 January 2018

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Regulation of 70-kDa heat-shock-protein ATPase activity and substrate binding by human DnaJ-like proteins, HSJ1a and HSJ1b

21 January 2018

1 reference

Modulation of neurodegeneration by molecular chaperones

21 January 2018

1 reference

Hsp70 and Hsp40 improve neurite outgrowth and suppress intracytoplasmic aggregate formation in cultured neuronal cells expressing mutant SOD1.

21 January 2018

1 reference

Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicity

21 January 2018

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Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy

21 January 2018

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The role of chaperones in polyglutamine disease

21 January 2018

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Hsp70 and hsp40 chaperones can inhibit self-assembly of polyglutamine proteins into amyloid-like fibrils

21 January 2018

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A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation

21 January 2018

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Levels of DNAJB family members (HSP40) correlate with disease onset in patients with spinocerebellar ataxia type 3.

21 January 2018

1 reference

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

21 January 2018

1 reference

Amyotrophic lateral sclerosis: Protein chaperone dysfunction revealed by proteomic studies of animal models

21 January 2018

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HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome

21 January 2018

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Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase

21 January 2018

1 reference

Neuropathological changes in two lines of mice carrying a transgene for mutant human Cu,Zn SOD, and in mice overexpressing wild type human SOD: a model of familial amyotrophic lateral sclerosis (FALS).

21 January 2018

1 reference

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

21 January 2018

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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

21 January 2018

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Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach

21 January 2018

1 reference

Guidelines for the nomenclature of the human heat shock proteins

21 January 2018

1 reference

Chaperone networks: tipping the balance in protein folding diseases

21 January 2018

1 reference

Structure, function and evolution of DnaJ: conservation and adaptation of chaperone function

21 January 2018

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The diversity of the DnaJ/Hsp40 family, the crucial partners for Hsp70 chaperones

21 January 2018

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Neuronal DnaJ proteins HSJ1a and HSJ1b: a role in linking the Hsp70 chaperone machine to the ubiquitin-proteasome system?

21 January 2018

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Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant

21 January 2018

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The Chaperone Environment at the Cytoplasmic Face of the Endoplasmic Reticulum Can Modulate Rhodopsin Processing and Inclusion Formation

21 January 2018

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Human homologues of the bacterial heat-shock protein DnaJ are preferentially expressed in neurons

21 January 2018

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DNAJB2 expression in normal and diseased human and mouse skeletal muscle

21 January 2018

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The role of the ubiquitin proteasome system in synapse remodeling and neurodegenerative diseases

21 January 2018

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Roles of ubiquitination at the synapse

21 January 2018

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HSP90 beta regulates rapsyn turnover and subsequent AChR cluster formation and maintenance.

21 January 2018

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Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.22684

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7 September 2017

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