Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy. - Wikidata - awgldk - TriplyDB

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

http://www.wikidata.org/entity/Q37351987

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Tropomodulin isoforms regulate thin filament pointed-end capping and skeletal muscle physiology Differential actin-regulatory activities of Tropomodulin1 and Tropomodulin3 with diverse tropomyosin and actin isoforms.Functional effects of mutations in the tropomyosin-binding sites of tropomodulin1 and tropomodulin3.Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.Dynamic regulation of sarcomeric actin filaments in striated muscle Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathy Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.Tropomodulins: pointed-end capping proteins that regulate actin filament architecture in diverse cell types.

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Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

http://www.wikidata.org/entity/Q37351987

description

article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on September 2008

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

@en

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

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type

label

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

@en

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

@nl

prefLabel

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

@en

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

@nl

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NEN.0B013E318183A44F

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Journal of Neuropathology & Experimental Neurology

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Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy

@en

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Ana Domazetovska

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Biljana Ilkovski

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Kathryn N North

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Kendall Walker

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Kristen J Nowak

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Nancy Mokbel

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Raymond A Lewis

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Velia M Fowler

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P2860

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

Tropomyosin requires an intact N-terminal coiled coil to interact with tropomodulin.

Nemaline myopathy: a clinical study of 143 cases

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1

The N-terminal end of nebulin interacts with tropomodulin at the pointed ends of the thin filaments.

A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy.

Identification of a novel tropomodulin isoform, skeletal tropomodulin, that caps actin filament pointed ends in fast skeletal muscle.

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

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867-877

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67

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Sandra T Cooper

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2008-09-01T00:00:00Z

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23183701

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18716557

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