Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome von Boyling, Alexandra, Perez-Siles, Gonzalo, Kennerson, Marina L

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Advances and challenges in modeling inherited peripheral neuropathies using iPSCs von 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

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C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement von Narayanan, Ramesh K., Perez-siles, Gonzalo, Marzec, Kamila A., Boyling, Alexandra, Neumann, Brent, Menezes, Manoj P., Kennerson, Marina L.

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Structural Determinants of the Neuronal Glycine Transporter 2 for the Selective Inhibitors ALX1393 and ORG25543 von Benito-Muñoz, Cristina, Perona, Almudena, Felipe, Raquel, Pérez-Siles, Gonzalo, Núñez, Enrique, Aragón, Carmen, López-Corcuera, Beatriz

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Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs von 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

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Pathogenic mechanisms underlying X-linked Charcot-Marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation von 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

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Molecular basis of the differential interaction with lithium of glycine transporters GLYT1 and GLYT2 von Pérez‐Siles, Gonzalo, Morreale, Antonio, Leo‐Macías, Alejandra, Pita, Guillermo, Ortíz, Ángel R., Aragón, Carmen, López‐Corcuera, Beatriz

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Subcellular Localization of the Neuronal Glycine Transporter GLYT2 in Brainstem von Núñez, Enrique, Pérez-Siles, Gonzalo, Rodenstein, Lara, Alonso-Torres, Pablo, Zafra, Francisco, Jiménez, Esperanza, Aragón, Carmen, López-Corcuera, Beatriz

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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 CMT... von 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

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Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy von 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

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A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2 von 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

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A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy von Kennerson, Marina L, Corbett, Alastair C, Ellis, Melina, Perez-Siles, Gonzalo, Nicholson, Garth A

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Advances and challenges in modeling inherited peripheral neuropathies using iPSCs von Van Lent, Jonas, Prior, Robert, Siles, Gonzalo Perez, 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

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Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1 von Grosz, Bianca R., Svaren, John, Perez-Siles, Gonzalo, Nicholson, Garth A., Kennerson, Marina L.

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An aspartate residue in the external vestibule of GLYT2 (glycine transporter 2) controls cation access and transport coupling von Pérez-Siles, Gonzalo, Núñez, Enrique, Morreale, Antonio, Jiménez, Esperanza, Leo-Macías, Alejandra, Pita, Guillermo, Cherubino, Francesca, Sangaletti, Rachele, Bossi, Elena, Ortíz, Angel R, Aragón, Carmen, López-Corcuera, Beatriz

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Characterizing the molecular phenotype of an Atp7aT985I conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX) von Perez-Siles, Gonzalo, Grant, Adrienne, Ellis, Melina, Ly, Carolyn, Kidambi, Aditi, Khalil, Mamdouh, Llanos, Roxana M., La Fontaine, Sharon, 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.

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Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX) von 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

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Characterizing the molecular phenotype of an conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX) von 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

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Characterizing the molecular phenotype of an Atp7a T985I conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX) von 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.

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Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value von Kortazar-Zubizarreta, Izaro, Eraña, Hasier, Pereda, Arrate, Charco, Jorge M, Manero-Azua, Africa, Ruiz-Onandi, Rebeca, Aguirre, Urko, Gonzalez-Chinchon, Gonzalo, Perez de Nanclares, Guiomar, Castilla, Joaquín

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