alpha-Skeletal muscle actin mutants causing different congenital myopathies induce similar cytoskeletal defects in cell line cultures (Q39885443)

15 September 2017

alpha-Skeletal muscle actin mutants causing different congenital myopathies induce similar cytoskeletal defects in cell line cultures (English)

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15 September 2017

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6

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15 September 2017

Drieke Vandamme

1

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15 September 2017

Heidi Rommelaere

2

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15 September 2017

Ellen Lambert

3

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15 September 2017

Davy Waterschoot

4

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15 September 2017

Joël Vandekerckhove

5

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15 September 2017

Christophe Ampe

7

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15 September 2017

1 April 2009

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15 September 2017

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15 September 2017

66

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15 September 2017

4

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15 September 2017

179-192

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Molecular organization of transverse tubule/sarcoplasmic reticulum junctions during development of excitation-contraction coupling in skeletal muscle

15 September 2017

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Clinical course correlates poorly with muscle pathology in nemaline myopathy.

21 January 2018

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Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

21 January 2018

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7 January 2021

Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes

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7 January 2021

Disruption of actin filaments causes redistribution of ryanodine receptor Ca2+ channels in honeybee photoreceptor cells

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7 January 2021

A novel X-linked form of congenital fiber-type disproportion.

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7 January 2021

The pathogenesis of ACTA1-related congenital fiber type disproportion

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7 January 2021

Congenital myopathies: diseases of the actin cytoskeleton.

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7 January 2021

Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

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7 January 2021

Tightly-bound divalent cation of actin

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7 January 2021

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

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7 January 2021

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

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7 January 2021

Triad formation: organization and function of the sarcoplasmic reticulum calcium release channel and triadin in normal and dysgenic muscle in vitro.

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7 January 2021

A cytoplasmic chaperonin that catalyzes beta-actin folding

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7 January 2021

Congenital myopathy with excess of thin myofilaments

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7 January 2021

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions

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7 January 2021

Regulation of contraction in striated muscle

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7 January 2021

Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies

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7 January 2021

Coordination of metabolic plasticity in skeletal muscle

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7 January 2021

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred

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7 January 2021

Minicores and congential fibre type disproportion observed in a family

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7 January 2021

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene

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7 January 2021

Atomic structure of the actin:DNase I complex

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7 January 2021

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

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7 January 2021

Actin mutations are one cause of congenital fibre type disproportion

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7 January 2021

A novel role for non-muscle gamma-actin in skeletal muscle sarcomere assembly

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7 January 2021

Mutational screen identifies critical amino acid residues of beta-actin mediating interaction between its folding intermediates and eukaryotic cytosolic chaperonin CCT.

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7 January 2021

A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production

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7 January 2021

Neurodegenerative stimuli induce persistent ADF/cofilin-actin rods that disrupt distal neurite function

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7 January 2021

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

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7 January 2021

Calcitonin gene-related peptide enhances the rate of desensitization of the nicotinic acetylcholine receptor in cultured mouse muscle cells

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7 January 2021

Actin interacts with CCT via discrete binding sites: a binding transition-release model for CCT-mediated actin folding

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7 January 2021

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

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7 January 2021

The crystal structure of uncomplexed actin in the ADP state

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7 January 2021

Mitochondrial activity is involved in the regulation of myoblast differentiation through myogenin expression and activity of myogenic factors

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7 January 2021

Eukaryotic cytosolic chaperonin contains t-complex polypeptide 1 and seven related subunits

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7 January 2021

Structural plasticity of functional actin: pictures of actin binding protein and polymer interfaces

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7 January 2021

A method for rapidly screening functionality of actin mutants and tagged actins

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7 January 2021

An electrophoretic procedure for detecting proteins that bind actin monomers

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7 January 2021

Myofibrillogenesis in skeletal muscle cells.

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7 January 2021

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

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7 January 2021

Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa

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7 January 2021

Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).

1 reference

7 January 2021

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

1 reference

7 January 2021

Prefoldin, a chaperone that delivers unfolded proteins to cytosolic chaperonin

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7 January 2021

138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden, The Netherlands

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7 January 2021

Endoplasmic reticulum calcium release is modulated by actin polymerization

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7 January 2021

Biogenesis of transverse tubules and triads: immunolocalization of the 1,4-dihydropyridine receptor, TS28, and the ryanodine receptor in rabbit skeletal muscle developing in situ

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7 January 2021

A mutation in the human ryanodine receptor gene associated with central core disease

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7 January 2021

Identifiers

DOI

10.1002/CM.20340

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15 September 2017

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