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

Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.

Human molecular genetics - 15 May 2005

Bär Harald, Fischer Dirk, Goudeau Bertrand, Kley Rudolf A, Clemen Christoph S, Vicart Patrick, Herrmann Harald, Vorgerd Matthias, Schröder Rolf

Abstract excerpt

Mutations of the human desmin gene on chromosome 2q35 cause a familial or sporadic form of skeletal myopathy frequently associated with cardiac abnormalities. Here, we report the pathogenic effects of a novel heterozygous R350P desmin missense mutation, which resides in the evolutionary highly conserved coil 2B domain of the alpha-helical coiled-coil desmin rod domain, on the assembly of desmin intermediate...

Read the complete abstract on PubMed

Topics

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

Share to 3T3 Cells
Share to Arginine

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Desmin

Share to Fluorescent Antibody Technique

Share to Genetic Carrier Screening

Share to Intermediate Filaments

Share to Microscopy, Electron

Share to Proline

Source

Identifiers

PMID: 15800015
DOI: 10.1093/hmg/ddi136

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.PMID 15800015Read ↗

Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages.Semantic proximity Read ↗

Desminopathies: pathology and mechanisms.Semantic proximity Read ↗

The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?Semantic proximity Read ↗

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathiesSemantic proximity Read ↗

Functional Characterization of a Novel Genetic Variant in Desmin (p.Glu353dup) Causing Myofibrillar Myopathy and Generation of Patient-Derived Induced Pluripotent Stem Cells for Disease ModelingSemantic proximity Read ↗

Impact of disease mutations on the desmin filament assembly process.Semantic proximity Read ↗

[Desmin filaments and their disorganization associated with myofibrillar myopathies].Semantic proximity Read ↗

Cardiomyopathy-Associated Mutations in a Hotspot Region at the C-Terminal Part of Desmin Coil-2 Domain Impair the Intermediate Filament Assembly.Semantic proximity Read ↗

A Missense Mutation in the Desmin Rod Domain Is Associated with Autosomal Dominant Distal Myopathy, and Exerts a Dominant Negative Effect on Filament FormationSemantic proximity Read ↗

The N-terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting the Filament AssemblySemantic proximity Read ↗

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.Semantic proximity Read ↗

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly DefectSemantic proximity Read ↗

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