(Q49651499)

English

Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.

scientific article published on 14 September 2017

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo. (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

Myosin heavy chain Dmel_CG17927

1 reference

GOA release 2020-03-11

Sanford Bernstein

7

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

author name string

Meera C Viswanathan

1

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

Rick C Tham

2

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

William A Kronert

3

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

Floyd Sarsoza

4

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

Adriana S Trujillo

5

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

Anthony Cammarato

6

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

publication date

14 September 2017

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

26

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

24

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

4799-4813

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5886249/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Pseudo-acetylation of K326 and K328 of actin disrupts Drosophila melanogaster indirect flight muscle structure and performance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Structural implications of β-cardiac myosin heavy chain mutations in human disease

1 reference

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8 September 2018

Proteasomal and lysosomal protein degradation and heart disease

1 reference

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8 September 2018

Scoliosis surgery in a patient with "de novo" myosin storage myopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Multiple tail domain interactions stabilize nonmuscle myosin II bipolar filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Hold me tight: Role of the heat shock protein family of chaperones in cardiac disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

A mutation in the beta-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Hyaline inclusion myopathy: unmasked by statin therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Myosin accumulation and striated muscle myopathy result from the loss of muscle RING finger 1 and 3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Hereditary myosin myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Myosin storage (hyaline body) myopathy: a case report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

The ubiquitin-proteasome system in cardiac physiology and pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Hyaline body myopathy: adulthood manifestations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Kinetic analysis of Drosophila muscle myosin isoforms suggests a novel mode of mechanochemical coupling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Suppression of muscle hypercontraction by mutations in the myosin heavy chain gene of Drosophila melanogaster.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Alternative exon-encoded regions of Drosophila myosin heavy chain modulate ATPase rates and actin sliding velocity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Determining structure/function relationships for sarcomeric myosin heavy chain by genetic and transgenic manipulation of Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

A direct screen identifies new flight muscle mutants on the Drosophila second chromosome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

A 29 residue region of the sarcomeric myosin rod is necessary for filament formation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Isolation of 88F actin mutants of Drosophila melanogaster and possible alterations in the mutant actin structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Ultrastructure of developing flight muscle in Drosophila. I. Assembly of myofibrils.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Inhibitors of the proteasome block the degradation of most cell proteins and the generation of peptides presented on MHC class I molecules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Defects in the Drosophila myosin rod permit sarcomere assembly but cause flight muscle degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Staging the metamorphosis of Drosophila melanogaster.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Drosophila muscle myosin heavy chain encoded by a single gene in a cluster of muscle mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Transposition of cloned P elements into Drosophila germ line chromosomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Helix geometry in proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Molecular genetics of myosin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Mutations of the Drosophila myosin heavy-chain gene: effects on transcription, myosin accumulation, and muscle function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

A stable genomic source of P element transposase in Drosophila melanogaster.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Functional domains of the Drosophila melanogaster muscle myosin heavy-chain gene are encoded by alternatively spliced exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Ultrastructural and molecular analyses of homozygous-viable Drosophila melanogaster muscle mutants indicate there is a complex pattern of myosin heavy-chain isoform distribution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Molecular and ultrastructural defects in a Drosophila myosin heavy chain mutant: differential effects on muscle function produced by similar thick filament abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Alternative myosin hinge regions are utilized in a tissue-specific fashion that correlates with muscle contraction speed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Molecular basis of myosin assembly: coiled-coil interactions and the role of charge periodicities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Characterisation of missense mutations in the Act88F gene of Drosophila melanogaster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886249

8 September 2018

Periodic charge distributions in the myosin rod amino acid sequence match cross-bridge spacings in muscle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX359

21 January 2018

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/28973424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A conserved C-terminal assembly region in paramyosin and myosin rods

1 reference

https://pubmed.ncbi.nlm.nih.gov/28973424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology

1 reference

https://pubmed.ncbi.nlm.nih.gov/28973424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular interactions in myosin assembly. Role of the 28-residue charge repeat in the rod

1 reference

https://pubmed.ncbi.nlm.nih.gov/28973424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyaline body myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/28973424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial myopathy with probable lysis of myofibrils in type I fibers

1 reference

https://pubmed.ncbi.nlm.nih.gov/28973424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/28973424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/28973424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDX359

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

PMC publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 February 2018

http://europepmc.org/abstract/MED/28973424

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