(Q34223063)

31 July 2017

title

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

1 reference

31 July 2017

Nigel G Laing

8

1 reference

ORCID Public Data File 2021

author name string

John C Sparrow

1

1 reference

31 July 2017

Kristen J Nowak

2

1 reference

31 July 2017

Hayley J Durling

3

1 reference

31 July 2017

Alan H Beggs

4

1 reference

31 July 2017

Carina Wallgren-Pettersson

5

1 reference

31 July 2017

Norma Romero

6

1 reference

31 July 2017

Ikuya Nonaka

7

1 reference

31 July 2017

publication date

1 September 2003

1 reference

31 July 2017

published in

Neuromuscular Disorders

1 reference

31 July 2017

volume

13

1 reference

31 July 2017

issue

7-8

1 reference

31 July 2017

page(s)

519-531

1 reference

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

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Infantile intranuclear rod myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Fatal congenital myopathy with actin filament deposits

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Neonatal nemaline myopathy with abundant intranuclear rods

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22-24 September 2000, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Regulation of contraction in striated muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Molecular characterization of mutant actin genes which induce heat-shock proteins in Drosophila flight muscles

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Atomic model of the actin filament

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Actin constitution: guaranteeing the right to assemble

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Mutant actin: a dead end?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Interactions between glycolytic enzymes and components of the cytomatrix

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Atomic structure of the actin:DNase I complex

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

The structure of crystalline profilin-beta-actin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

The crystal structure of uncomplexed actin in the ADP state

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Refinement of the F-actin model against X-ray fiber diffraction data by the use of a directed mutation algorithm.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Modulation of yeast F-actin structure by a mutation in the nucleotide-binding cleft

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Intrastrand cross-linked actin between Gln-41 and Cys-374. I. Mapping of sites cross-linked in F-actin by N-(4-azido-2-nitrophenyl) putrescine

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Structure and function of actin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

A conformational change in the actin subunit can change the flexibility of the actin filament

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Interaction of caldesmon and myosin subfragment 1 with the C-terminus of actin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Myosin-induced changes in F-actin: fluorescence probing of subdomain 2 by dansyl ethylenediamine attached to Gln-41.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Intrastrand cross-linked actin between Gln-41 and Cys-374. III. Inhibition of motion and force generation with myosin.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Structural dynamics of F-actin: I. Changes in the C terminus.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Localization of the tightly bound divalent-cation-dependent and nucleotide-dependent conformation changes in G-actin using limited proteolytic digestion

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Effects of the type of divalent cation, Ca2+ or Mg2+, bound at the high-affinity site and of the ionic composition of the solution on the structure of F-actin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Structural connectivity in actin: effect of C-terminal modifications on the properties of actin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Fluorescence probing of yeast actin subdomain 3/4 hydrophobic loop 262-274. Actin-actin and actin-myosin interactions in actin filaments

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Cross-linking constraints on F-actin structure.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Defining protein interactions with yeast actin in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Mapping actin surfaces required for functional interactions in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Actin-dystrophin interface.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Each Actin Subunit Has Three Nebulin Binding Sites

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

Inherited disorders of sarcomeric proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900101-9

7 January 2021

10.1016/S0960-8966(03)00101-9

Identifiers

DOI

1 reference

31 July 2017

1 reference