M
María Jesús Sobrido
Researcher at University of Santiago de Compostela
Publications - 46
Citations - 2226
María Jesús Sobrido is an academic researcher from University of Santiago de Compostela. The author has contributed to research in topics: Spinocerebellar ataxia & Ataxia. The author has an hindex of 21, co-authored 41 publications receiving 1926 citations. Previous affiliations of María Jesús Sobrido include University of California, Los Angeles & Rafael Advanced Defense Systems.
Papers
More filters
Journal ArticleDOI
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
Cheng Wang,Yulei Li,Lei Shi,Jie Ren,Monica Patti,Tao Wang,João Ricardo Mendes de Oliveira,María Jesús Sobrido,Beatriz Quintáns,Miguel Baquero,Xiaoniu Cui,Xiang Yang Zhang,Lianqing Wang,Haibo Xu,Junhan Wang,Jing Yao,Xiaohua Dai,Juan Liu,Lu Zhang,Hongying Ma,Yong Gao,Xixiang Ma,Shenglei Feng,Mugen Liu,Qing Kenneth Wang,Ian C. Forster,Xue Zhang,Jingyu Liu +27 more
TL;DR: These results implicate altered phosphate homeostasis in the etiology of IBGC and identify mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry.
Journal ArticleDOI
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Annika Keller,Annika Keller,Annika Keller,Ana Westenberger,María Jesús Sobrido,María García-Murias,Aloysius Domingo,Renee L. Sears,R. R. Lemos,Andrés Ordóñez-Ugalde,Gaël Nicolas,José Eriton Gomes da Cunha,Elisabeth J. Rushing,Michael Hugelshofer,Moritz C. Wurnig,Andres Kaech,Regina Reimann,Katja Lohmann,Valerija Dobricic,Angel Carracedo,Igor Petrović,Janis M. Miyasaki,Irina Abakumova,Maarja Mäe,Maarja Mäe,Elisabeth Raschperger,Elisabeth Raschperger,Mayana Zatz,Katja Zschiedrich,Jörg Klepper,Elizabeth Spiteri,Elizabeth Spiteri,J.M. Prieto,I. Navas,Michael Preuss,Carmen Dering,Milena Jankovic,Martin Paucar,Per Svenningsson,Kioomars Saliminejad,Hamid Reza Khorram Khorshid,Ivana Novakovic,Adriano Aguzzi,Andreas Boss,Isabelle Le Ber,Gilles Defer,Didier Hannequin,Vladimir S. Kostic,Dominique Campion,Daniel H. Geschwind,Giovanni Coppola,Christer Betsholtz,Christer Betsholtz,Christine Klein,João Ricardo Mendes de Oliveira +54 more
TL;DR: The data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.
Journal ArticleDOI
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Andrea Legati,Donatella Giovannini,Gaël Nicolas,Uriel López-Sánchez,Beatriz Quintáns,João Ricardo Mendes de Oliveira,Renee L. Sears,Renee L. Sears,Eliana Marisa Ramos,Elizabeth Spiteri,María Jesús Sobrido,Angel Carracedo,Cristina Castro-Fernández,Stéphanie Cubizolle,Brent L. Fogel,Cyril Goizet,Joanna C. Jen,Suppachok Kirdlarp,Anthony E. Lang,Zosia Miedzybrodzka,Witoon Mitarnun,Martin Paucar,Henry L. Paulson,Jérémie Pariente,Anne Claire Richard,Naomi Salins,Sheila A Simpson,Pasquale Striano,Per Svenningsson,François Tison,Vivek K. Unni,Olivier Vanakker,Marja W. Wessels,Suppachok Wetchaphanphesat,Michele Yang,François Boller,Dominique Campion,Didier Hannequin,Marc Sitbon,Daniel H. Geschwind,Jean-Luc Battini,Giovanni Coppola +41 more
TL;DR: This work has identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function that alters phosphate export, implicating X PR1 and phosphate homeostasis in PFBC.
Journal ArticleDOI
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Jijun Wan,Michael Yourshaw,Hafsa Mamsa,Sabine Rudnik-Schöneborn,Manoj P. Menezes,Ji Eun Hong,Derek W. Leong,Derek W. Leong,Jan Senderek,Michael S. Salman,Michael S. Salman,David Chitayat,Pavel Seeman,Arpad von Moers,Luitgard Graul-Neumann,Andrew J. Kornberg,Manuel Castro-Gago,María Jesús Sobrido,Masafumi Sanefuji,Perry B. Shieh,Noriko Salamon,Ronald C. Kim,Harry V. Vinters,Zugen Chen,Klaus Zerres,Monique M. Ryan,Stanley F. Nelson,Joanna C. Jen +27 more
TL;DR: These findings represent the first example of an RNA exosome core component gene that is responsible for a human disease and further implicate dysregulation of RNA processing in cerebellar and spinal motor neuron maldevelopment and degeneration.
Journal ArticleDOI
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Sandy Chan Hsu,Renee L. Sears,R. R. Lemos,Beatriz Quintáns,Alden Y. Huang,Elizabeth Spiteri,Elizabeth Spiteri,Lisette Nevarez,Catherine Mamah,Catherine Mamah,Mayana Zatz,Kerrie D. Pierce,Janice M. Fullerton,Janice M. Fullerton,John C. Adair,Jon E. Berner,Matthew Bower,Henry Brodaty,Olga Carmona,Valerija Dobricic,Brent L. Fogel,Daniel García-Estevez,Jill Goldman,John L. Goudreau,Suellen Hopfer,Suellen Hopfer,Milena Jankovic,Serge Jaumà,Joanna C. Jen,Suppachok Kirdlarp,Joerg Klepper,Vladimir S. Kostic,Anthony E. Lang,Agnès Linglart,Melissa K. Maisenbacher,Bala V. Manyam,Pietro Mazzoni,Z. Miedzybrodzka,Witoon Mitarnun,Philip B. Mitchell,Jennifer Mueller,Ivana Novakovic,Martin Paucar,Henry L. Paulson,Sheila A Simpson,Per Svenningsson,Paul J. Tuite,Jerrold L. Vitek,Suppachok Wetchaphanphesat,Charles A. Williams,Michele Yang,Michele Yang,Peter R. Schofield,Peter R. Schofield,João Ricardo Mendes de Oliveira,María Jesús Sobrido,Daniel H. Geschwind,Giovanni Coppola +57 more
TL;DR: It is demonstrated that mutations in SLC20A2 are a major cause of familial IBGC, and non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.