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

Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein.

PLoS genetics - 1 Feb 2018

Sztal Tamar E, McKaige Emily A, Williams Caitlin, Ruparelia Avnika A, Bryson-Richardson Robert J

Abstract excerpt

The lack of a mutant phenotype in homozygous mutant individuals' due to compensatory gene expression triggered upstream of protein function has been identified as genetic compensation. Whilst this intriguing process has been recognized in zebrafish, the presence of homozygous loss of function mutations in healthy human individuals suggests that compensation may not be restricted to this model. Loss of skeletal...

Read the complete abstract on PubMed

Topics

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

Share to Actins
Share to Animals, Genetically Modified

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dosage Compensation, Genetic

Share to Embryo, Nonmammalian

Share to Gene Knockdown Techniques

Share to Myopathies, Nemaline

Share to Penetrance

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 29420541
DOI: 10.1371/journal.pgen.1007212
PMCID: PMC5821405

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

Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein.PMID 29420541Read ↗

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

Myopathy-causing actin mutations promote defects in serum-response factor signalling.Semantic proximity Read ↗

Genetic compensation in β-actin mutants occurs independently of mutations that destabilize β-actin mRNASemantic proximity Read ↗

A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish.Semantic proximity Read ↗

Modulating myosin restores muscle function in a mouse model of nemaline myopathySemantic proximity Read ↗

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.Semantic proximity Read ↗

Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.Semantic proximity Read ↗

Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.Semantic proximity Read ↗

Multiscale characterization of <i>Caenorhabditis elegans</i> mutants to probe functional mechanisms of human actin pathological variantsSemantic proximity Read ↗

Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.Semantic proximity Read ↗

Mutations in Caenorhabditis elegans actin, which are equivalent to human cardiomyopathy mutations, cause abnormal actin aggregation in nematode striated muscleSemantic proximity Read ↗

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