Mutation in BAG3 causes severe dominant childhood muscular dystrophy (Q34904884)

5 August 2017

title

Mutation in BAG3 causes severe dominant childhood muscular dystrophy (English)

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muscle cell cellular homeostasis

5 August 2017

1 reference

GOA release 2020-03-11

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GOA release 2020-03-11

2

Francesco Muntoni

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5 August 2017

Duygu Selcen

1

1 reference

5 August 2017

Barbara K Burton

3

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5 August 2017

Elena Pegoraro

4

1 reference

5 August 2017

Caroline Sewry

5

1 reference

5 August 2017

Anna V Bite

6

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5 August 2017

Andrew G Engel

7

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5 August 2017

publication date

1 January 2009

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5 August 2017

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5 August 2017

volume

65

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5 August 2017

issue

1

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5 August 2017

page(s)

83-89

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Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

5 August 2017

cites work

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

8 July 2018

1 reference

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8 July 2018

Primary desminopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

Zaspopathy in a large classic late-onset distal myopathy family

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

BAG3 deficiency results in fulminant myopathy and early lethality

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

8 July 2018

1 reference

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Mutations in ZASP define a novel form of muscular dystrophy in humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

Mutations in myotilin cause myofibrillar myopathy

8 July 2018

1 reference

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8 July 2018

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Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

BAG3 protein regulates stress-induced apoptosis in normal and neoplastic leukocytes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

What's in the 'BAG'?--A functional domain analysis of the BAG-family proteins.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

Molecular chaperone targeting and regulation by BAG family proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

Isolation of Bcl-2 binding proteins that exhibit homology with BAG-1 and suppressor of death domains protein

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

The anti-apoptotic protein BAG-3 is overexpressed in pancreatic cancer and induced by heat stress in pancreatic cancer cell lines

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

Hsp27 negatively regulates cell death by interacting with cytochrome c.

8 July 2018

1 reference

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The nucleolus: an old factory with unexpected capabilities

8 July 2018

1 reference

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Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

A dysfunctional desmin mutation in a patient with severe generalized myopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

Influence of proline on the thermostability of the active site and membrane arrangement of transmembrane proteins.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

Myotilinopathy: refining the clinical and myopathological phenotype

26 October 2018

1 reference

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Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

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

26 October 2018

1 reference

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Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2639628

Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

26 October 2018

1 reference

12 December 2020

Myofibrillar myopathy: no evidence of apoptosis by TUNEL

1 reference

12 December 2020

Dysferlinopathy associated with rigid spine syndrome

1 reference

12 December 2020

Myopathy-associated alphaB-crystallin mutants: abnormal phosphorylation, intracellular location, and interactions with other small heat shock proteins

1 reference

12 December 2020

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.21553

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5 August 2017

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5 August 2017

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