A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2 C Giménez, G Pérez-Siles, J Martínez-Villarreal, E Arribas-González, ... Journal of Biological Chemistry 287 (34), 28986-29002, 2012 | 46 | 2012 |
Subcellular localization of the neuronal glycine transporter GLYT2 in brainstem E Núñez, G Pérez‐Siles, L Rodenstein, P Alonso‐Torres, F Zafra, ... Traffic 10 (7), 829-843, 2009 | 35 | 2009 |
Molecular basis of the differential interaction with lithium of glycine transporters GLYT1 and GLYT2 G Pérez‐Siles, A Morreale, A Leo‐Macías, G Pita, ÁR Ortíz, C Aragón, ... Journal of neurochemistry 118 (2), 195-204, 2011 | 26 | 2011 |
Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p. R158H PDK3 mutation G Perez-Siles, A Cutrupi, M Ellis, R Screnci, D Mao, M Uesugi, EM Yiu, ... Scientific Reports 10 (1), 1-13, 2020 | 23 | 2020 |
An aspartate residue in the external vestibule of GLYT2 (glycine transporter 2) controls cation access and transport coupling G Pérez-Siles, E Núñez, A Morreale, E Jiménez, A Leo-Macías, G Pita, ... Biochemical Journal 442 (2), 323-334, 2012 | 20 | 2012 |
Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation. KML Perez-Siles G, Ly C, Grant A, Drew AP, Yiu EM, Ryan MM, Chuang DT, Tso ... Neurobiology of Disease 94, 237-44, 2016 | 16 | 2016 |
Characterizing the molecular phenotype of an Atp7aT985I conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX) KML Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM ... Metallomics, 2016 | 12 | 2016 |
A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy ML Kennerson, AC Corbett, M Ellis, G Perez-Siles, GA Nicholson Brain, 2018 | 11 | 2018 |
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs G Perez-Siles, A Cutrupi, M Ellis, J Kuriakose, S La Fontaine, D Mao, ... Disease models & mechanisms 13 (2), 2020 | 10 | 2020 |
Estudio estructura-función de los transportadores de glicina GLYT1 y GLYT2: identificación de una nueva mutacuón en GLYT2 en pacientes de hiperplexia hereditaria G Pérez Siles | | 2011 |