Publications by authors named "Lucia Perez de Ayala"
Article Synopsis
- Inherited retinal diseases (IRDs) involve the dysfunction or loss of photoreceptors and show significant clinical and genetic variability; this study aimed to detail the genetic landscape of IRDs in a large cohort of Spanish patients.
- Over 6,000 individuals from 4,403 families were analyzed, with 53.2% of families genetically characterized, revealing 1,549 likely pathogenic variants across 142 genes, with retinitis pigmentosa being the most common phenotype (55.6% of families).
- The study identified key genes linked to various IRD forms and highlighted frequent variants, providing valuable insights for genetic diagnosis, counseling, and potential therapies for the Spanish population and related groups.
Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confused with myotonia congenita. Another disease also caused by mutations in the gene SCN4A is called myotonia aggravated by potassium (OMIM 170500, 613345). It is estimated that more than 20% of patients with suspected myotonia congenita suffer paramyotonia congenita.
View Article and Find Full Text PDF8-oxo-7,8-dihydro-2'-deoxyguanosine (8oxodG) is a major lesion resulting from oxidative stress and found in both DNA and dNTP pools. Such a lesion is usually removed from DNA by the Base Excision Repair (BER), a universally conserved DNA repair pathway. 8oxodG usually adopts the favored and promutagenic syn-conformation at the active site of DNA polymerases, allowing the base to hydrogen bonding with adenine during DNA synthesis.
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