Publications by authors named "N Gelvez"
Article Synopsis
- Latin America's genetic diversity offers a unique opportunity to study Alzheimer's disease (AD) and frontotemporal dementia (FTD), with a focus on identifying related genetic variations.
- The study involved 2,162 participants from six countries who underwent extensive genomic sequencing and analysis to detect genetic factors linked to these dementias.
- Results highlighted a mix of American, African, and European ancestries, discovered 17 pathogenic variants, and revealed specific genetic variations tied to AD and FTD inheritance patterns in affected families.
Article Synopsis
- - Cytidine to Uridine (C-to-U) RNA editing, facilitated by APOBEC1 (A1), plays a crucial role in biological processes, particularly in regulating cholesterol metabolism through editing ApoB mRNA.
- - A1 relies on cofactors like A1CF and RBM47 to form an "editosome" for effective RNA editing, while Syncrip acts as a potential regulator of A1 without directly participating in the editing.
- - The study introduced a new cofactor, RBM46, which enhances A1's editing capabilities on ApoB mRNA and identified novel cellular RNA targets for the A1/RBM46 editosome using advanced sequencing techniques.
Dysfunction of some mitochondrial aminoacyl-tRNA synthetases (encoded by the , , and genes) results in a great variety of phenotypes ranging from non-syndromic hearing impairment (NSHI) to very complex syndromes, with a predominance of neurological signs. The diversity of roles that are played by these moonlighting enzymes and the fact that most pathogenic variants are missense and affect different domains of these proteins in diverse compound heterozygous combinations make it difficult to establish genotype-phenotype correlations. We used a targeted gene-sequencing panel to investigate the presence of pathogenic variants in those four genes in cohorts of 175 Spanish and 18 Colombian familial cases with non-DFNB1 autosomal recessive NSHI.
View Article and Find Full Text PDFCytidine (C) to Uridine (U) RNA editing is a post-transcription modification that is involved in diverse biological processes. APOBEC1 (A1) catalyzes the conversion of C-to-U in RNA, which is important in regulating cholesterol metabolism through its editing activity on ApoB mRNA. However, A1 requires a cofactor to form an "editosome" for RNA editing activity.
View Article and Find Full Text PDFPurpose: To characterize the largest cohort of individuals with retinol dehydrogenase 12 (RDH12)-retinal dystrophy to date, and the first one from South America.
Design: Retrospective multicenter international study.
Subjects: Seventy-eight patients (66 families) with an inherited retinal dystrophy and biallelic variants in RDH12.