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

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors.

eLife - 3 Mar 2022

Ruiz Alexis, Benucci Sofia, Duthaler Urs, Bachmann Christoph, Franchini Martina, Noreen Faiza, Pietrangelo Laura, Protasi Feliciano, Treves Susan, Zorzato Francesco

Abstract excerpt

To date there are no therapies for patients with congenital myopathies, muscle disorders causing poor quality of life of affected individuals. In approximately 30% of the cases, patients with congenital myopathies carry either dominant or recessive mutations in the ryanodine receptor 1 (RYR1) gene; recessive RYR1 mutations are accompanied by reduction of RyR1 expression and content in skeletal muscles and are...

Read the complete abstract on PubMed

Topics

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

Share to Histone Deacetylases
Share to Methyltransferases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Muscle Strength

Share to Muscular Diseases

Share to Myotonia Congenita

Share to Quality of Life

Share to Ryanodine Receptor Calcium Release Channel

Source

Open in PubMed Open full text

Identifiers

PMID: 35238775
DOI: 10.7554/eLife.73718
PMCID: PMC8956288

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors.PMID 35238775Read ↗

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitorsSemantic proximity Read ↗

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.Semantic proximity Read ↗

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.Semantic proximity Read ↗

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.Semantic proximity Read ↗

Quantitative proteomic analysis of skeletal muscles from wild type and transgenic mice carrying recessive <i>Ryr1</i> mutations linked to congenital myopathiesSemantic proximity Read ↗

Histone Deacetylase Inhibitors in the Treatment of Muscular Dystrophies: Epigenetic Drugs for Genetic DiseasesSemantic proximity Read ↗

Histone deacetylase inhibitors: a potential epigenetic treatment for Duchenne muscular dystrophy.Semantic proximity Read ↗

Epigenetic small molecule screening identifies a new HDACi compound for ameliorating Duchenne muscular dystrophySemantic proximity Read ↗

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strengthSemantic proximity Read ↗

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathySemantic proximity Read ↗

Massive reduction of RyR1 in muscle spindles of mice carrying recessive <i>Ryr1</i> mutations alters proprioception and causes scoliosisSemantic proximity Read ↗

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.Semantic proximity Read ↗

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