Irene Bravo‐Alonso

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

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 …

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

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 …

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

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 …

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Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

Sinziana Stanescu, Irene Bravo‐Alonso, Amaya Bélanger-Quintana, Belén Pérez et autres

BACKGROUND: Monocarboxylate transporter 1 (MCT1) deficiency has recently been described as a rare cause of recurrent ketosis, the result of impaired ketone utilization in extrahepatic tissues. To date, only six patients with this condition have been identified, and clinical and biochemical details …

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Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

Irene Bravo‐Alonso, Rosa Navarrete, Ana Isabel Vega, Pedro Ruiz‐Sala et autres

Congenital lactic acidosis (CLA) is a rare condition in most instances due to a range of inborn errors of metabolism that result in defective mitochondrial function. Even though the implementation of next generation sequencing has been rapid, the diagnosis rate for this …

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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]

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 …

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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

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 …

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

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 …

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Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist, Cécile Acquaviva et autres

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Nonketotic hyperglycinemia: Functional assessment of missense variants inGLDCto understand phenotypes of the disease

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 …

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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist, Cécile Acquaviva et autres

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Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

Irene Bravo‐Alonso, Alfonso Oyarzábal, María Sánchez‐Aragó, María Teresa Rejas et autres

This data article contains complementary figures to the research article "Mitochondrial response to the BCKDK-deficiency: some clues to understand the positive dietary response in this form of autism" [1]. Herein we present data relative to the effect of knocking down BCKDK gene …

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