(Q29147507)

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28144995%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

title

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations (English)

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28144995%20AND%20SRC:MED&resulttype=core&format=json

Heat shock protein family B (small) member 1

9 April 2020

main subject

1 reference

Heat shock protein family B (small) member 8

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Thomas Geuens

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28144995%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Elias Adriaenssens

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28144995%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

4

Yann Péréon

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28144995%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

author name string

Andoni Echaniz-Laguna

1

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28144995%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Philippe Petiot

3

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28144995%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Mansour Haidar

6

2 references

4 April 2017

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9 April 2020

Simona Capponi

7

2 references

4 April 2017

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9 April 2020

Thierry Maisonobe

8

2 references

4 April 2017

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9 April 2020

Emmanuel Fournier

9

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28144995%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Odile Dubourg

10

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28144995%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Bertrand Degos

11

2 references

4 April 2017

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9 April 2020

François Salachas

12

2 references

4 April 2017

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9 April 2020

Timothée Lenglet

13

2 references

4 April 2017

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9 April 2020

Bruno Eymard

14

2 references

4 April 2017

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9 April 2020

Emilien Delmont

15

2 references

4 April 2017

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9 April 2020

Jean Pouget

16

2 references

4 April 2017

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9 April 2020

Raul Juntas Morales

17

2 references

4 April 2017

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9 April 2020

Cyril Goizet

18

2 references

4 April 2017

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9 April 2020

Philippe Latour

19

2 references

4 April 2017

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9 April 2020

Tanya Stojkovic

21

2 references

4 April 2017

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9 April 2020

Vincent Timmerman

20

1 reference

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9 April 2020

publication date

25 February 2017

1 reference

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9 April 2020

2 references

4 April 2017

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9 April 2020

volume

38

1 reference

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9 April 2020

issue

5

1 reference

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9 April 2020

page(s)

556-568

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28144995%20AND%20SRC:MED&resulttype=core&format=json

Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy

9 April 2020

cites work

1 reference

Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites

21 April 2017

1 reference

Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments

21 April 2017

1 reference

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

21 April 2017

1 reference

Role of phosphorylation on the structural dynamics and function of types III and IV intermediate filaments

21 April 2017

1 reference

A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.

21 April 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Recent advances in Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Identification of the Drosophila ortholog of HSPB8: implication of HSPB8 loss of function in protein folding diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

HspB8 chaperone activity toward poly(Q)-containing proteins depends on its association with Bag3, a stimulator of macroautophagy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Serum creatine kinase levels in spinobulbar muscular atrophy and amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Neurofilament phosphorylation and their proline-directed kinases in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Mutant HSPB8 causes motor neuron-specific neurite degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

The size of the proteasomal substrate determines whether its degradation will be mediated by mono- or polyubiquitylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Biochemical characterization of small heat shock protein HspB8 (Hsp22)-Bag3 interaction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Neurofilaments switch between distinct mobile and stationary states during their transport along axons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Acute myelogenous leukemia-derived SMAD4 mutations target the protein to ubiquitin-proteasome degradation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

Characterization of human small heat shock protein HspB1 that carries C-terminal domain mutations associated with hereditary motor neuron diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

7 January 2021

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

7 January 2021

Effect of mutations in the beta5-beta7 loop on the structure and properties of human small heat shock protein HSP22 (HspB8, H11)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

7 January 2021

A family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23189

7 January 2021

Identifiers

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28144995%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

2 references

4 April 2017