Publications by authors named "Laura Arribas-Carreira"
Article Synopsis
- Nonketotic hyperglycinemia (NKH) is a rare disorder linked to severe brain malformations and neurological issues, and understanding its underlying causes is still a work in progress.
- Researchers aimed to study how gene variants associated with NKH affect the growth and development of human stem cells into astrocytes, a type of brain cell, by creating a specific cell line for their investigation.
- The study revealed that the modified stem cells underwent metabolic changes to adapt, which led to increased growth and a shift in the types of brain cells produced, providing insights into NKH and potential new treatment strategies.
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 humans, it involves five enzymatic steps catalyzed by four enzymes: pantothenate kinase (PANK [isoforms 1-4]), 4'-phosphopantothenoylcysteine synthetase (PPCS), phosphopantothenoylcysteine decarboxylase (PPCDC), and CoA synthase (COASY).
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- Protein lipoylation is crucial for cell metabolism, with the H-protein (GCSH) playing a key role in this process for important enzymes and one-carbon metabolism.
- A study of six patients with pathogenic variants in GCSH showed a range of clinical issues, from severe neonatal encephalopathy to milder developmental delays and movement disorders.
- Functional analyses revealed that most mutations led to reduced mitochondrial activity and metabolic deficiencies, highlighting the importance of understanding these variants to guide treatment options.
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].
Stem Cell Res
August 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.
View Article and Find Full Text PDFA 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.
View Article and Find Full Text PDFThe 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 mutations in the GLDC gene. However, understanding the impact of missense variants identified in this gene is a major challenge for the application of genomics into clinical practice.
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