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

LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.

PloS one - 1 Jan 2014

Lacerda Andressa Ferreira, Hartjes Emily, Brunetti Craig R

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is one of the most common heritable neuromuscular disorders, affecting 1 in every 2500 people. Mutations in LITAF have been shown to be causative for CMT type 1C disease. In this paper we explore the subcellular localization of wild type LITAF and mutant forms of LITAF known to cause CMT1C (T49M, A111G, G112S, T115N, W116G, L122V and P135T). The results show that LITAF mutants...

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 Endosomes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lysosomes

Share to Mitochondria

Share to Nuclear Proteins

Share to Protein Transport

Share to Secretory Pathway

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 25058650
DOI: 10.1371/journal.pone.0103454
PMCID: PMC4110028

Genes

LITAF

Variants

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

LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.PMID 25058650Read ↗

Characterisation of LITAF, a protein associated with Charcot-Marie-Tooth disease type 1CSemantic proximity Read ↗

Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.Semantic proximity Read ↗

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.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 ↗

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

Accumulation of endogenous LITAF in aggresomes.Semantic proximity Read ↗

LITAF (SIMPLE) regulates Wallerian degeneration after injury but is not essential for peripheral nerve development and maintenance: implications for Charcot-Marie-Tooth disease.Semantic proximity Read ↗

The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.Semantic proximity Read ↗

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1CSemantic proximity Read ↗

Overexpression of caveolin-1 is sufficient to phenocopy the behavior of a disease-associated mutant.Semantic proximity Read ↗

Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7K126R Mutation.Semantic proximity Read ↗

S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p.Semantic proximity Read ↗

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