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Human Molecular Genetics|December 29, 2020
Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth diseaseLara Cantarero, Elena Juárez-Escoto, Azahara Civera-Tregón, et al.Human Molecular Genetics|August 30, 2014
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth diseaseDavid Pla-Martín, Eduardo Calpena, Vincenzo Lupo, et al.Expert Review of Molecular Diagnostics|July 7, 2015
Molecular diagnosis of coenzyme Q10 deficiencyDelia Yubero, Raquel Montero, Judith Armstrong, et al.Journal of the Peripheral Nervous System : JPNS|December 20, 2011
Congenital hypomyelinating neuropathy due to a novel MPZ mutationTeresa Sevilla, Vincenzo Lupo, Rafael Sivera, et al.Neurobiology of Disease|February 14, 2021
Mitochondria and calcium defects correlate with axonal dysfunction in GDAP1-related Charcot-Marie-Tooth mouse modelAzahara Civera-Tregón, Laura Domínguez, Paula Martínez-Valero, et al.Journal of Cellular and Molecular Medicine|November 21, 2007
Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A diseaseLaia Pedrola, Antonio Espert, Teresa Valdés-Sánchez, et al.Scientific Reports|February 22, 2017
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respirationPaloma González-Sánchez, David Pla-Martín, Paula Martínez-Valero, et al.Plos One|June 21, 2011
Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblastsJosé Luis García-Giménez, Amparo Gimeno, Pilar Gonzalez-Cabo, et al.Scientific Reports|April 7, 2020
Cofilin dysregulation alters actin turnover in frataxin-deficient neuronsDiana C Muñoz-Lasso, Belén Mollá, Pablo Calap-Quintana, et al.The Journal of Biological Chemistry|April 6, 2011
Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegansPilar González-Cabo, Arantxa Bolinches-Amorós, Juan Cabello, et al.Pageof 12