Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy (Q34318026)

1 August 2017

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

1 reference

Distal hereditary motor neuropathies

1 August 2017

1 reference

inferred from title

author

Michaela Auer-Grumbach

12

Michaela Auer-Grumbach

0 references

Ludo Van Den Bosch

Ludo Van Den Bosch

4

0 references

Kevin Talbot

Kevin Talbot

17

0 references

Wim Robberecht

24

Wim Robberecht

1 reference

1 August 2017

Oleg V Evgrafov

1

1 reference

1 August 2017

Irena Mersiyanova

2

1 reference

1 August 2017

Joy Irobi

3

1 reference

1 August 2017

Ines Dierick

5

1 reference

1 August 2017

Conrad L Leung

6

1 reference

1 August 2017

Olga Schagina

7

1 reference

1 August 2017

Nathalie Verpoorten

8

1 reference

1 August 2017

Katrien Van Impe

9

1 reference

1 August 2017

Valeriy Fedotov

10

1 reference

1 August 2017

Elena Dadali

11

1 reference

1 August 2017

Christian Windpassinger

13

1 reference

1 August 2017

Klaus Wagner

14

1 reference

1 August 2017

Zoran Mitrovic

15

1 reference

1 August 2017

David Hilton-Jones

16

1 reference

1 August 2017

Jean-Jacques Martin

18

1 reference

1 August 2017

Natalia Vasserman

19

1 reference

1 August 2017

Svetlana Tverskaya

20

1 reference

1 August 2017

Alexander Polyakov

21

1 reference

1 August 2017

Ronald K H Liem

22

1 reference

1 August 2017

Jan Gettemans

23

1 reference

1 August 2017

Peter De Jonghe

25

1 reference

1 August 2017

Vincent Timmerman

26

1 reference

1 August 2017

language of work or name

English

0 references

publication date

2 May 2004

1 reference

1 August 2017

1 reference

1 August 2017

36

1 reference

1 August 2017

602-606

1 reference

1 August 2017

6

1 reference

https://scigraph.springernature.com/pub.10.1038/ng1354

1 August 2017

0 references

cites work

Disease mechanisms in inherited neuropathies

1 reference

7 January 2021

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

1 reference

7 January 2021

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

1 reference

7 January 2021

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

1 reference

7 January 2021

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

1 reference

7 January 2021

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

1 reference

7 January 2021

The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders

1 reference

7 January 2021

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

1 reference

7 January 2021

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.

1 reference

7 January 2021

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

1 reference

7 January 2021

Interaction of human HSP22 (HSPB8) with other small heat shock proteins

1 reference

7 January 2021

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

1 reference

7 January 2021

Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature

1 reference

7 January 2021

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

7 January 2021

The sperm outer dense fiber protein is the 10th member of the superfamily of mammalian small stress proteins

1 reference

7 January 2021

Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G alphaB-crystallin mutant

1 reference

7 January 2021

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

1 reference

7 January 2021

A positive charge preservation at position 116 of alpha A-crystallin is critical for its structural and functional integrity.

1 reference

7 January 2021

Hsp27 negatively regulates cell death by interacting with cytochrome c.

1 reference

7 January 2021

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

1 reference

7 January 2021

Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

1 reference

7 January 2021

Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation

1 reference

7 January 2021

The small heat shock protein alpha B-crystallin negatively regulates apoptosis during myogenic differentiation by inhibiting caspase-3 activation

1 reference

7 January 2021

Hsp27 upregulation and phosphorylation is required for injured sensory and motor neuron survival.

1 reference

7 January 2021

High threshold for induction of the stress response in motor neurons is associated with failure to activate HSF1.

1 reference

7 January 2021

Upregulation of HSP27 in a Transgenic Model of ALS

1 reference

7 January 2021

Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common feature

1 reference

7 January 2021

Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin

1 reference

7 January 2021

cDNA sequence of a human heat shock protein HSP27

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1354

1 reference

1 August 2017

1 reference