Výsledky vyhledávání - "Laura Arribas-Carreira"

Akademický článek

Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient

Autor: Laura Arribas-Carreira, Margarita Castro, Fernando García, Rosa Navarrete, Irene Bravo-Alonso, Francisco Zafra, Magdalena Ugarte, Eva Richard, Belén Pérez, Pilar Rodríguez-Pombo

Publikováno v: International Journal of Molecular Sciences, Vol 25, Iss 5, p 2814 (2024)

The pathophysiology of nonketotic hyperglycinemia (NKH), a rare neuro-metabolic disorder associated with severe brain malformations and life-threatening neurological manifestations, remains incompletely understood. Therefore, a valid human neural mod

Externí odkaz: https://doaj.org/article/e213bcbd384c4f63b0c53c5517148239

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Akademický článek

Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

Autor: Laura Arribas-Carreira, Irene Bravo-Alonso, Arístides López-Márquez, Esmeralda Alonso-Barroso, Álvaro Briso-Montiano, Ignacio Arroyo, Magdalena Ugarte, Belén Pérez, Celia Pérez-Cerdá, Pilar Rodríguez-Pombo, Eva Richard

Publikováno v: Stem Cell Research, Vol 39, Iss , Pp - (2019)

A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with nonketotic hyperglycinemia bearing the biallelic changes c.1742C > G (p.Pro581Arg) and c.2368C > T (p.Arg790Trp) in the GLDC gene. Reprogramming factor

Externí odkaz: https://doaj.org/article/b3968f8debc44c3d8ee41557336cc7a9

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Akademický článek

Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene

Autor: Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, Irene Bravo-Alonso, Laura Arribas-Carreira, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R. Desviat, Eva Richard

Publikováno v: Stem Cell Research, Vol 38, Iss , Pp - (2019)

A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218_1231del14ins12 (p.G407 fs)) in the PCCB gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-

Externí odkaz: https://doaj.org/article/6bcc985f9e1040cd893521594429bcff

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Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy

Autor: Irene Bravo‐Alonso, Matías Morin, Laura Arribas‐Carreira, Mar Álvarez, Consuelo Pedrón‐Giner, Lucia Soletto, Carlos Santolaria, Santiago Ramón‐Maiques, Magdalena Ugarte, Pilar Rodríguez‐Pombo, Joaquín Ariño, Miguel Ángel Moreno‐Pelayo, Belén Pérez

Publikováno v: Journal of inherited metabolic diseaseREFERENCES.

12 páginas, 6 figuras
Coenzyme A (CoA) is an essential cofactor involved in a range of metabolic pathways including the activation of long-chain fatty acids for catabolism. Cells synthesize CoA de novo from vitamin B5 (pantothenate) via a pathw

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a98c457713d4d31523cbcde5abd97d49
https://pubmed.ncbi.nlm.nih.gov/36564894

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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency

Publikováno v: Human molecular genetics.

Maintaining protein lipoylation is vital for cell metabolism. The H-protein encoded by GCSH has a dual role in protein lipoylation required for bioenergetic enzymes including pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase, and in the one-ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a43d5241355ccacf3cf24c2450c5b71c
https://pubmed.ncbi.nlm.nih.gov/36190515

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Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

Autor: Ignacio Arroyo, Laura Arribas-Carreira, Arístides López-Márquez, Celia Pérez-Cerdá, Eva Richard, Esmeralda Alonso-Barroso, Irene Bravo-Alonso, Magdalena Ugarte, Pilar Rodríguez-Pombo, Belén Pérez, Álvaro Briso-Montiano

Publikováno v: Stem Cell Research, Vol 39, Iss, Pp-(2019)
Biblos-e Archivo. Repositorio Institucional de la UAM
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Digital.CSIC. Repositorio Institucional del CSIC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a094be7a0b7ec0f546f1ed7b8381d7
http://hdl.handle.net/10261/214714

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Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

Autor: Irene Bravo-Alonso, Johan L.K. Van Hove, Michael A. Swanson, Belén Pérez, Ana Morais, Angels García-Cazorla, David Abia, Rosa Navarrete, Pilar Rodríguez-Pombo, María L. Couce, Magdalena Ugarte, María Antonia Ramos, Celia Pérez-Cerdá, Almudena Perona, Rosario Domingo, Laura Arribas-Carreira

Publikováno v: Human mutation. 38(6)

The rapid analysis of genomic data is providing effective mutational confirmation in patients with clinical and biochemical hallmarks of a specific disease. This is the case for nonketotic hyperglycinemia (NKH), a Mendelian disorder causing seizures

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::742653b9969f93480445d624a74bc7c7
https://pubmed.ncbi.nlm.nih.gov/28244183

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Corrigendum to 'Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene' [Stem Cell Research, Volume 38, July 2019, 101469]

Autor: Belén Pérez, Rosa Navarrete, Eva Richard, Irene Bravo-Alonso, Arístides López-Márquez, Álvaro Briso-Montiano, Gema Cerro-Tello, Magdalena Ugarte, Esmeralda Alonso-Barroso, Celia Pérez-Cerdá, Laura Arribas-Carreira, Lourdes R. Desviat

Publikováno v: Stem Cell Research. 39:101513

This study was funded in part by the Australian National Health and Medical Research Council (NHMRC) project grants (GNT1044175 and GNT1098255) awarded to E.G.S, M.B.D, I.S and P.J.L. K.B is supported by an E.H. Flack Fellowship and P.J.L is supporte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9c5057a1f0f35154a08c57d230f0f440
https://doi.org/10.1016/j.scr.2019.101513

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