Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.
Park J et al.
Genes & Genomics, 2022
Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.
Michaelidou K et al.
Molecular Genetics & Genomic Medicine, 2020
Tryptophan to Glycine mutation in the position 116 leads to protein aggregation and decreases the stability of the LITAF protein.
Kumar CV et al.
Journal of Biomolecular Structure & Dynamics, 2015
LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.
Lacerda AF et al.
Plos One, 2014
SIMPLE: A new regulator of endosomal trafficking and signaling in health and disease.
Chin LS et al.
Communicative & Integrative Biology, 2013
Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking.
Lee SM et al.
The Journal of Cell Biology, 2012
Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.
Lee SM et al.
Journal of Cell Science, 2011
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
Latour P et al.
Journal of the Peripheral Nervous System : Jpns, 2006
How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?
Kochański A
Journal of Applied Genetics, 2006
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Saifi GM et al.
Human Mutation, 2005
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