Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.

Biochimica et biophysica acta - 1 Oct 2012

Robaszkiewicz Katarzyna, Dudek Elżbieta, Kasprzak Andrzej A, Moraczewska Joanna

Abstract excerpt

Missense mutations in human TPM3 gene encoding γ-tropomyosin expressed in slow muscle type 1 fibers, were associated with three types of congenital myopathies-nemaline myopathy, cap disease and congenital fiber type disproportion. Functional effects of the following substitutions: Leu100Met, Ala156Thr, Arg168His, Arg168Cys, Arg168Gly, Lys169Glu, and Arg245Gly, were examined in biochemical assays using recombinant...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Actin Cytoskeleton
Share to Actins
Share to Actomyosin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Adenosine Triphosphatases

Share to Muscle Weakness

Share to Myasthenic Syndromes, Congenital

Share to Tropomyosin

Share to Troponin

Source

Identifiers

PMID: 22749829
DOI: 10.1016/j.bbadis.2012.06.009

Genes

TPM3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.PMID 22749829Read ↗

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.Semantic proximity Read ↗

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.Semantic proximity Read ↗

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.Semantic proximity Read ↗

A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.Semantic proximity Read ↗

Myopathy-causing mutation R91P in the TPM3 gene drastically impairs structural and functional properties of slow skeletal muscle tropomyosin γβ-heterodimer.Semantic proximity Read ↗

Mechanisms of disturbance of the contractile function of slow skeletal muscles induced by myopathic mutations in the tropomyosin TPM3 gene.Semantic proximity Read ↗

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.Semantic proximity Read ↗

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.Semantic proximity Read ↗

Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents.Semantic proximity Read ↗

Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies.Semantic proximity Read ↗

A myopathy-linked tropomyosin mutation severely alters thin filament conformational changes during activation.Semantic proximity Read ↗

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.