Advances and challenges in modeling inherited peripheral neuropathies using iPSCs
Van Lent, Jonas, Prior, Robert, Pérez Siles, Gonzalo, Cutrupi, Anthony N, Kennerson, Marina L, Vangansewinkel, Tim, Wolfs, Esther, Mukherjee-Clavin, Bipasha, Nevin, Zachary, Judge, Luke, Conklin, Bruce, Tyynismaa, Henna, Clark, Alex J, Bennett, David L, Van Den Bosch, Ludo, Saporta, Mario, Timmerman, Vincent
Published in Experimental & molecular medicine (01.06.2024)
Published in Experimental & molecular medicine (01.06.2024)
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Structural Determinants of the Neuronal Glycine Transporter 2 for the Selective Inhibitors ALX1393 and ORG25543
Benito-Muñoz, Cristina, Perona, Almudena, Felipe, Raquel, Pérez-Siles, Gonzalo, Núñez, Enrique, Aragón, Carmen, López-Corcuera, Beatriz
Published in ACS chemical neuroscience (02.06.2021)
Published in ACS chemical neuroscience (02.06.2021)
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Journal Article
Molecular basis of the differential interaction with lithium of glycine transporters GLYT1 and GLYT2
Pérez‐Siles, Gonzalo, Morreale, Antonio, Leo‐Macías, Alejandra, Pita, Guillermo, Ortíz, Ángel R., Aragón, Carmen, López‐Corcuera, Beatriz
Published in Journal of neurochemistry (01.07.2011)
Published in Journal of neurochemistry (01.07.2011)
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Journal Article
Subcellular Localization of the Neuronal Glycine Transporter GLYT2 in Brainstem
Núñez, Enrique, Pérez-Siles, Gonzalo, Rodenstein, Lara, Alonso-Torres, Pablo, Zafra, Francisco, Jiménez, Esperanza, Aragón, Carmen, López-Corcuera, Beatriz
Published in Traffic (Copenhagen, Denmark) (01.07.2009)
Published in Traffic (Copenhagen, Denmark) (01.07.2009)
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Journal Article
A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2
Giménez, Cecilio, Pérez-Siles, Gonzalo, Martínez-Villarreal, Jaime, Arribas-González, Esther, Jiménez, Esperanza, Núñez, Enrique, de Juan-Sanz, Jaime, Fernández-Sánchez, Enrique, García-Tardón, Noemí, Ibáñez, Ignacio, Romanelli, Valeria, Nevado, Julián, James, Victoria M., Topf, Maya, Chung, Seo-Kyung, Thomas, Rhys H., Desviat, Lourdes R., Aragón, Carmen, Zafra, Francisco, Rees, Mark I., Lapunzina, Pablo, Harvey, Robert J., López-Corcuera, Beatriz
Published in The Journal of biological chemistry (17.08.2012)
Published in The Journal of biological chemistry (17.08.2012)
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Journal Article
C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement
Narayanan, Ramesh K., Perez-siles, Gonzalo, Marzec, Kamila A., Boyling, Alexandra, Neumann, Brent, Menezes, Manoj P., Kennerson, Marina L.
Published in Genes & diseases (01.07.2024)
Published in Genes & diseases (01.07.2024)
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Journal Article
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
Perez-Siles, Gonzalo, Cutrupi, Anthony, Ellis, Melina, Kuriakose, Jakob, La Fontaine, Sharon, Mao, Di, Uesugi, Motonari, Takata, Reinaldo I, Speck-Martins, Carlos E, Nicholson, Garth, Kennerson, Marina L
Published in Disease models & mechanisms (01.02.2020)
Published in Disease models & mechanisms (01.02.2020)
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Journal Article
Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation
Perez-Siles, Gonzalo, Ly, Carolyn, Grant, Adrienne, Drew, Alexander P, Yiu, Eppie M, Ryan, Monique M, Chuang, David T, Tso, Shih-Chia, Nicholson, Garth A, Kennerson, Marina L
Published in Neurobiology of disease (01.10.2016)
Published in Neurobiology of disease (01.10.2016)
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Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model
Narayanan, Ramesh K, Brewer, Megan H, Perez-Siles, Gonzalo, Ellis, Melina, Ly, Carolyn, Burgess, Andrew, Neumann, Brent, Nicholson, Garth A, Vucic, Steve, Kennerson, Marina L
Published in Human molecular genetics (17.12.2021)
Published in Human molecular genetics (17.12.2021)
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Journal Article
Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy
Cutrupi, Anthony N, Narayanan, Ramesh K, Perez-Siles, Gonzalo, Grosz, Bianca R, Lai, Kaitao, Boyling, Alexandra, Ellis, Melina, Lin, Ruby C Y, Neumann, Brent, Mao, Di, Uesugi, Motonari, Nicholson, Garth A, Vucic, Steve, Saporta, Mario A, Kennerson, Marina L
Published in Brain (London, England : 1878) (01.03.2023)
Published in Brain (London, England : 1878) (01.03.2023)
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Journal Article
Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1
Grosz, Bianca R., Svaren, John, Perez-Siles, Gonzalo, Nicholson, Garth A., Kennerson, Marina L.
Published in Neurogenetics (01.07.2021)
Published in Neurogenetics (01.07.2021)
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Journal Article
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)
Perez-Siles, Gonzalo, Grant, Adrienne, Ellis, Melina, Ly, Carolyn, Kidambi, Aditi, Khalil, Mamdouh, Llanos, Roxana M, Fontaine, Sharon La, Strickland, Alleene V, Züchner, Stephan, Bermeo, Sandra, Neist, Elysia, Brennan-Speranza, Tara C, Takata, Reinaldo I, Speck-Martins, Carlos E, Mercer, Julian F B, Nicholson, Garth A, Kennerson, Marina L
Published in Metallomics (01.09.2016)
Published in Metallomics (01.09.2016)
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