Myofibrillar myopathies (Q28303812)

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scientific article 2011

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Language	Label	Description	Also known as
English	Myofibrillar myopathies	scientific article 2011

Statements

instance of

scholarly article

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review article

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stated in

Europe PubMed Central

title

Myofibrillar myopathies (English)

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author name string

Duygu Selcen

series ordinal

1

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language of work or name

English

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publication date

March 2011

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published in

Neuromuscular Disorders

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volume

21

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issue

3

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page(s)

161-71

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cites work

Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient

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PubMed Central

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20 March 2017

Zaspopathy in a large classic late-onset distal myopathy family

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PubMed Central

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20 March 2017

Myotilinopathy in a family with late onset myopathy

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PubMed Central

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20 March 2017

A mutation in myotilin causes spheroid body myopathy

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PubMed Central

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20 March 2017

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

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PubMed Central

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20 March 2017

Mutations in myotilin cause myofibrillar myopathy

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PubMed Central

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20 March 2017

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

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PubMed Central

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20 March 2017

Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

myotilin Mutation found in second pedigree with LGMD1A

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

Mechanism and role of PDZ domains in signaling complex assembly

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PubMed Central

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20 March 2017

Molecular chaperone targeting and regulation by BAG family proteins

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

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

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PubMed Central

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20 March 2017

Structural and functional aspects of filamins

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PubMed Central

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20 March 2017

Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin

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PubMed Central

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20 March 2017

Myotilin is mutated in limb girdle muscular dystrophy 1A

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

ZASP: a new Z-band alternatively spliced PDZ-motif protein

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

20 March 2017

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

20 March 2017

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

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

BAG3 deficiency results in fulminant myopathy and early lethality

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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20 March 2017

Intermediate filaments: structure, dynamics, function, and disease

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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7 April 2017

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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29 September 2017

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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29 September 2017

DNAJB2 expression in normal and diseased human and mouse skeletal muscle

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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29 September 2017

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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29 September 2017

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

29 September 2017

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

29 September 2017

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

29 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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29 September 2017

Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

29 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

29 September 2017

The ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

29 September 2017

A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

29 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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29 September 2017

Alpha-crystallin-type heat shock proteins: socializing minichaperones in the context of a multichaperone network.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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29 September 2017

Oracle, a novel PDZ-LIM domain protein expressed in heart and skeletal muscle

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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29 September 2017

Intermediate filaments and their associates: multi-talented structural elements specifying cytoarchitecture and cytodynamics

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

29 September 2017

Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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29 September 2017

Alpha-crystallin as a molecular chaperone

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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29 September 2017

ATP-enhanced molecular chaperone functions of the small heat shock protein human alphaB crystallin

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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29 September 2017

Chaperone activity of alpha B-crystallin suppresses tubulin aggregation through complex formation.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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29 September 2017

Alpha B-crystallin in cardiac tissue. Association with actin and desmin filaments

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

29 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

2 June 2018

The small heat-shock protein, alphaB-crystallin, has a variable quaternary structure

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

2 June 2018

AlphaB-crystallin interacts with intermediate filaments in response to stress

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

2 June 2018

A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

27 November 2018

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

27 November 2018

TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

27 November 2018

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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27 November 2018

Myotilinopathy: refining the clinical and myopathological phenotype

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

27 November 2018

Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

27 November 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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27 November 2018

Characterization and in vivo functional analysis of splice variants of cypher

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

27 November 2018

Association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

27 November 2018

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

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

27 November 2018

Late onset hereditary distal myopathy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

retrieved

27 November 2018

Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736

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27 November 2018

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21256014

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transient regulation of c-fos, alpha B-crystallin, and hsp70 in muscle during recovery from contractile activity

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21256014

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oxidative Stress in Desminopathies and Myotilinopathies: A Link between Oxidative Damage and Abnormal Protein Aggregation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21256014

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21256014

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21256014

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.NMD.2010.12.007

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4867250

OpenCitations bibliographic resource ID

4867250

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4867250

PMC publication ID

3052736

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4867250

PubMed publication ID

21256014

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4867250

ResearchGate publication ID

49775348

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