Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
A Role of Inflammation in Charcot-Marie-Tooth Disorders-In a Perspective of Treatment?
Kamińska J et al.
International Journal of Molecular Sciences, 2024
Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.
Park J et al.
Genes & Genomics, 2022
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.
Edgar JR et al.
Acta Neuropathologica Communications, 2020
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.
Ho AK et al.
Bmc Biology, 2016
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
Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.
Zhu H et al.
Molecular Biology of the Cell, 2013
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
[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
Zhang RX et al.
Yi Chuan = Hereditas, 2010
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
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
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Bennett CL et al.
Annals of Neurology, 2004
Disease mechanisms in inherited neuropathies.
Suter U et al.
Nature Reviews. Neuroscience, 2003
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
Street VA et al.
Neurology, 2003