From the Genetics and Molecular Medicine Unit, Instituto de Biomedicina de Valencia-CSIC, C/ Jaume Roig, 11, 46010, Valencia, Spain, CIBER de Enfermedades Raras (CIBERER), C/ Álvaro de Bazán, 10 bajo, 46010, Valencia, Spain, and the Department of Cell Biology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. Running title: GDAP1 complements fis1Δ phenotype in S. cerevisiae. ...

In recent years, 13 loci and 10 genes have been identified in Charcot-Marie-Tooth disorders with a recessive mode of inheritance (AR-CMT). Accordingly, the entity of AR-CMT has been divided into subgroups on the basis of genetic linkage. Mutations in the MTMR2, MTMR13, GDAP1, PRX, CTDPI, KIAA1985 and NDRG1 genes have been shown to be associated with specific CMT phenotypes. In AR-CMT disorders ...

Over the last 15 years, a number of mutations in a variety of genes have been identified that lead to inherited motor and sensory neuropathies (HMSN), also called Charcot-Marie-Tooth disease (CMT). In this review we will focus on the molecular and cellular mechanisms that cause the Schwann cell pathologies observed in dysmyelinating and demyelinating forms of CMT. In most instances, the underly...