Accès ouvert
2024
article
OpenAlex
Laura Arribas‐Carreira, Margarita del Carmen Castro, Fernando García, Rosa Navarrete et autres
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 model is essential. We aimed to investigate the impact of GLDC gene variants, which cause …
es
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
Laura Arribas‐Carreira, Margarita del Carmen Castro, Fernando García, Rosa Navarrete et autres
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 neuronal model is essential. We aimed to investigate the impact of GLDC gene variants, which cause …
es
(code pays fourni par la source)
Accès ouvert
2022
article
OpenAlex
Irene Bravo‐Alonso, Matías Morin, Laura Arribas‐Carreira, Mar Álvarez et autres
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 pathway strongly conserved across prokaryotes and eukaryotes. In …
es
(code pays fourni par la source)
Accès ouvert
2022
article
OpenAlex
Laura Arribas‐Carreira, Cristina Dallabona, Michael A. Swanson, Joseph D. Farris et autres
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-carbon metabolism through its involvement in glycine cleavage enzyme …
es, it, us, dk, de, at, gb
(code pays fourni par la source)
Accès ouvert
2019
erratum
OpenAlex
Arístides López‐Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, Irene Bravo‐Alonso et autres
We have generated and characterized seven human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) from a single family, including unaffected and affected individuals clinically diagnosed with Autism Spectrum Disorder (ASD). The reprogramming of the PBMCs was …
es
(code pays fourni par la source)
Accès ouvert
2019
article
OpenAlex
Laura Arribas‐Carreira, Irene Bravo‐Alonso, Arístides López‐Márquez, Esmeralda Alonso-Barroso et autres
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 factors OCT3/4, SOX2, KLF4 and c-MYC …
es
(code pays fourni par la source)
Accès ouvert
2019
article
OpenAlex
Arístides López‐Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, Irene Bravo‐Alonso et autres
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-MYC were delivered using a non-integrative …
es
(code pays fourni par la source)
2017
article
OpenAlex
Irene Bravo‐Alonso, Rosa Navarrete, Laura Arribas‐Carreira, Almudena Perona et autres
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 in neonates and early-infants, primarily due to …
es, us
(code pays fourni par la source)