![]() ![]() Analyses of cultured embryonic MNs and adult dorsal Competitiveness, grants no. firmed the axonal nature of the neuropathy whereas histopathological studies over time showed progressive loss of motor neurons (MNs) in the anterior horn of the spinal cord and Funding: This work has been funded by grants from the Spanish Ministry of Economy and defects in neuromuscular junctions. Electrophysiological and biochemical studies con- Data Availability Statement: All relevant data are within the paper and its Supporting Information files. The affected animals presented abnormal motor be- havior starting at the age of 3 months. ![]() To investigate the functional consequences of lack of GDAP1 in vivo,we medium, provided the original author and source are credited. ![]() GDAP1 silencing in vitro open access article distributed under the terms of the 2+ 2+ reduces Ca inflow through store-operated Ca entry (SOCE) upon mobilization of endo- Creative Commons Attribution License, which permits 2+ plasmic reticulum (ER) Ca, likely in association with an abnormal distribution of the mito- unrestricted use, distribution, and reproduction in any chondrial network. This is an of reactive oxygen species and susceptibility to apoptotic stimuli. Loss of function recessive Accepted: Mamutations in GDAP1 are associated with decreased mitochondrial fission activity, while Published: Apdominant mutations result in impairment of mitochondrial fusion with increased production Copyright: © 2015 Barneo-Muñoz et al. Cox, The Jackson Laboratory, UNITED STATES Mutations in GDAP1, which encodes protein located in the mitochondrial outer membrane, cause axonal recessive (AR-CMT2), axonal dominant (CMT2K) and demyelinating reces- Received: Jsive (CMT4A) forms of Charcot-Marie-Tooth (CMT) neuropathy. Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of Charcot-Marie-Tooth Neuropathy Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of.īarneo-Muñoz, Manuela Juárez, Paula Civera-Tregón, Azahara Yndriago, Laura Pla-Martin, David Zenker, Jennifer Cuevas-Martín, Carmen Estela, Anna Sánchez-Aragó, María Forteza-Vila, JerónimoĮditor: Gregory A. ![]()
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