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

Topics Community

Article

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.

Human molecular genetics - 1 Jun 2017

Hakonen Johanna E, Sorrentino Vincenzo, Avagliano Trezza Rossella, de Wissel Marit B, van den Berg Marlene, Bleijlevens Boris, van Ruissen Fred, Distel Ben, Baas Frank, Zelcer Noam, Weterman Marian A J

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift (FS) mutation in the Really Interesting New Gene finger (RING) domain of LRSAM1 (c.2121_2122dup, p.Leu708Argfs) that encodes an E3 ubiquitin ligase, as the cause of axonal-type CMT...

Topics

Axons
Base Sequence
Charcot-Marie-Tooth Disease
Exons
Female
Frameshift Mutation
Genetic Testing
Humans
Male
Mutation
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Netherlands

Protein Domains

Ubiquitin-Protein Ligases

Ubiquitination

Source

Identifiers

PMID: 28335037
DOI: 10.1093/hmg/ddx089

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.PMID 28335037Read ↗

LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.Semantic proximity Read ↗

Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.Semantic proximity Read ↗

A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P.Semantic proximity Read ↗

Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFRSemantic proximity Read ↗

Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.Semantic proximity Read ↗

A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.Semantic proximity Read ↗

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.Semantic proximity Read ↗

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.Semantic proximity Read ↗

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.Semantic proximity Read ↗

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.Semantic proximity Read ↗

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