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

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.

Journal of the peripheral nervous system : JPNS - 1 Jun 2006

Latour Philippe, Gonnaud Pierre-Marie, Ollagnon Elisabeth, Chan Victor, Perelman Serge, Stojkovic Tanya, Stoll Claude, Vial Christophe, Ziegler François, Vandenberghe Antoon, Maire Irène

Abstract excerpt

Charcot-Marie-Tooth disease type 1C (CMT1C) is caused by mutations in the small integral membrane protein of the lysosome/late endosome (SIMPLE). We analyzed the coding sequence of SIMPLE in DNA of 53 unrelated cases of dominant demyelinating CMT disease with no mutations in PMP22, GJB1, MPZ, EGR2, and NEFL genes. Four different missense mutations were observed in six families. The mutation Gly112Ser was found in...

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Genes, Dominant

Share to Infant

Share to Nuclear Proteins

Share to Sequence Analysis, Protein

Share to Transcription Factors

Source

Identifiers

PMID: 16787513
DOI: 10.1111/j.1085-9489.2006.00080.x

Genes

EGR2
GJB1
MPZ
NEFL
PMP22

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

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.PMID 16787513Read ↗

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.Semantic proximity Read ↗

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

Mutations associated with Charcot–Marie–Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome–autophagy pathwaysSemantic proximity Read ↗

Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.Semantic proximity Read ↗

Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.Semantic proximity Read ↗

A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.Semantic proximity Read ↗

A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease.Semantic proximity Read ↗

SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.Semantic proximity Read ↗

Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.Semantic proximity Read ↗

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