Article
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2018
Juneja Manisha, Azmi Abdelkrim, Baets Jonathan, Roos Andreas, Jennings Matthew J, Saveri Paola, Pisciotta Chiara, Bernard-Marissal Nathalie, Schneider Bernard L, Verfaillie Catherine, Chrast Roman, Seeman Pavel, Hahn Angelika F, de Jonghe Peter, Maudsley Stuart, Horvath Rita, Pareyson Davide, Timmerman Vincent
Abstract excerpt
BACKGROUND: Charcot-Marie-Tooth type 2 (CMT2) neuropathy is characterised by a vast clinical and genetic heterogeneity complicating its diagnosis and therapeutic intervention. Identification of molecular signatures that are common to multiple CMT2 subtypes can aid in developing therapeutic strategies and measuring disease outcomes. METHODS: A proteomics-based approach was performed on lymphoblasts from CMT2...
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