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

Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes.

BMC cell biology - 16 Jan 2007

Bathe Friederike S, Rommelaere Heidi, Machesky Laura M

Abstract excerpt

BACKGROUND: About 20 % of nemaline myopathies are thus far related to skeletal muscle alpha-actin. Seven actin mutants located in different parts of the actin molecule and linked to different forms of the disease were selected and expressed as EGFP-tagged constructs in differentiated C2C12 mytoubes. Results were compared with phenotypes in patient skeletal muscle fibres and with previous expression studies in...

Read the complete abstract on PubMed

Topics

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

Share to Actins
Share to Fluorescent Dyes
Share to Green Fluorescent Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Fibers, Skeletal

Share to Myoblasts, Skeletal

Share to Myopathies, Structural, Congenital

Share to Sarcomeres

Share to Stress Fibers

Source

Open in PubMed Open full text

Identifiers

PMID: 17227580
DOI: 10.1186/1471-2121-8-2
PMCID: PMC1779783

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

Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes.PMID 17227580Read ↗

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

Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.Semantic proximity Read ↗

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.Semantic proximity Read ↗

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.Semantic proximity Read ↗

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.Semantic proximity Read ↗

ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy.Semantic proximity Read ↗

In vitro analysis of rod composition and actin dynamics in inherited myopathies.Semantic proximity Read ↗

Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weaknessSemantic proximity Read ↗

alpha-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells.Semantic proximity Read ↗

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.Semantic proximity Read ↗

Mechanisms underlying intranuclear rod formation.Semantic proximity Read ↗

Investigations into the pathobiology of thin-filament myopathies.Semantic proximity Read ↗

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