Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). (Q34223063)

31 July 2017

title

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

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31 July 2017

Nigel G Laing

8

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ORCID Public Data File 2021

author name string

John C Sparrow

1

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31 July 2017

Kristen J Nowak

2

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31 July 2017

Hayley J Durling

3

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31 July 2017

Alan H Beggs

4

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31 July 2017

Carina Wallgren-Pettersson

5

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31 July 2017

Norma Romero

6

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31 July 2017

Ikuya Nonaka

7

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31 July 2017

publication date

1 September 2003

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31 July 2017

published in

Neuromuscular Disorders

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31 July 2017

volume

13

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31 July 2017

issue

7-8

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31 July 2017

page(s)

519-531

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

31 July 2017

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

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Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

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Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

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A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

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

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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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Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy

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Expression and function of the Drosophila ACT88F actin isoform is not restricted to the indirect flight muscles

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A tropomyosin-2 mutation suppresses a troponin I myopathy in Drosophila

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Regulation of contraction in striated muscle

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7 January 2021

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Mutant actin: a dead end?

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Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

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Interactions between glycolytic enzymes and components of the cytomatrix

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7 January 2021

Atomic structure of the actin:DNase I complex

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7 January 2021

Structure of gelsolin segment 1-actin complex and the mechanism of filament severing

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7 January 2021

The structure of crystalline profilin-beta-actin

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Intermolecular coupling between loop 38-52 and the C-terminus in actin filaments

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7 January 2021

Yeast actin with a mutation in the "hydrophobic plug" between subdomains 3 and 4 (L266D) displays a cold-sensitive polymerization defect

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7 January 2021

The effects of severely decreased hydrophobicity in a subdomain 3/4 loop on the dynamics and stability of yeast G-actin

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7 January 2021

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7 January 2021

Cross-linking constraints on F-actin structure.

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7 January 2021

Effect of polymerization on the subdomain 3/4 loop of yeast actin

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7 January 2021

Defining protein interactions with yeast actin in vivo

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7 January 2021

Mapping actin surfaces required for functional interactions in vivo

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7 January 2021

Actin residue glu(93) is identified as an amino acid affecting myosin binding.

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7 January 2021

Structure of the actin-myosin complex and its implications for muscle contraction

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7 January 2021

Three-dimensional structure of myosin subfragment-1: a molecular motor

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7 January 2021

Crossbridge and tropomyosin positions observed in native, interacting thick and thin filaments

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7 January 2021

Regulation of the interaction between actin and myosin subfragment 1: evidence for three states of the thin filament

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7 January 2021

Determination of the alpha-actinin-binding site on actin filaments by cryoelectron microscopy and image analysis

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7 January 2021

Actin-dystrophin interface.

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7 January 2021

Localization of a new alpha-actinin binding site in the COOH-terminal part of actin sequence

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7 January 2021

Nebulin is a full-length template of actin filaments in the skeletal muscle sarcomere: an immunoelectron microscopic study of its orientation and span with site-specific monoclonal antibodies

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7 January 2021

Each Actin Subunit Has Three Nebulin Binding Sites

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7 January 2021

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

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7 January 2021

Inherited disorders of sarcomeric proteins

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7 January 2021

10.1016/S0960-8966(03)00101-9

Identifiers

DOI

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31 July 2017

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