Autophagic vacuolar pathology in desminopathies (Q35164493)

6 August 2017

Autophagic vacuolar pathology in desminopathies (English)

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6 August 2017

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3

Robert H Baloh

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6 August 2017

Conrad C Weihl

1

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6 August 2017

Stanley Iyadurai

2

1 reference

6 August 2017

Sara K Pittman

4

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6 August 2017

Robert E Schmidt

5

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6 August 2017

Glenn Lopate

6

1 reference

6 August 2017

Alan Pestronk

7

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6 August 2017

Matthew B Harms

8

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6 August 2017

12 December 2014

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6 August 2017

Neuromuscular Disorders

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6 August 2017

25

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6 August 2017

199-206

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6 August 2017

3

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Novel CLN3 mutation causing autophagic vacuolar myopathy

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Enhanced autophagy ameliorates cardiac proteinopathy.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Desminopathies: pathology and mechanisms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Autophagy and p62 in cardiac proteinopathy.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Atg7 induces basal autophagy and rescues autophagic deficiency in CryABR120G cardiomyocytes.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Selective degradation of aggregate-prone CryAB mutants by HSPB1 is mediated by ubiquitin-proteasome pathways

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Autophagy is an adaptive response in desmin-related cardiomyopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Differentiation of cardiomyocytes requires functional serine residues within the amino-terminal domain of desmin

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Autophagic vacuolar myopathy.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Localization of dystrophin and beta-spectrin in vacuolar myopathies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Colchicine myopathy: a vacuolar myopathy with selective type I muscle fiber involvement. An immunohistochemical and electron microscopic study of two cases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Desmin-related myopathies

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355324

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks

27 September 2018

1 reference

12 December 2020

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

1 reference

12 December 2020

1 reference

12 December 2020

Expression of caveolar components in primary desminopathy

1 reference

12 December 2020

Inflammatory myopathies with mitochondrial pathology and protein aggregates

1 reference

12 December 2020

A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene

1 reference

12 December 2020

10.1016/J.NMD.2014.12.002

Identifiers

DOI

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6 August 2017

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6 August 2017

1 reference