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
A Role of Inflammation in Charcot-Marie-Tooth Disorders-In a Perspective of Treatment?
Kamińska J et al.
International Journal of Molecular Sciences, 2024
High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.
Ceylan GG et al.
Revista Da Associacao Medica Brasileira (1992), 2023
Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.
Park J et al.
Genes & Genomics, 2022
Endosomal recycling tubule scission and integrin recycling involve the membrane curvature-supporting protein LITAF.
Wunderley L et al.
Journal of Cell Science, 2021
Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.
Jerath NU et al.
Muscle & Nerve, 2017
The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.
Ho AK et al.
Bmc Biology, 2016
The Charcot Marie Tooth disease protein LITAF is a zinc-binding monotopic membrane protein.
Qin W et al.
The Biochemical Journal, 2016
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F et al.
Brain and Behavior, 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
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
Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.
Potulska-Chromik A et al.
Folia Neuropathologica, 2012
Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF.
Gerding WM et al.
Neuromuscular Disorders : Nmd, 2009
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