Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII

Genetic mutations are involved in Mendelian disorders. Unbuffered intronic mutations in gene variants can generate aberrant splice sites in mutant transcripts, resulting in mutant isoforms of proteins with modulated expression, stability, and function in diseased cells. Here, we identify a deep intr...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Biochim Biophys Acta Mol Basis Dis
Auteurs principaux: Udupa, Prajna, Shrikondawar, Akshaykumar Nanaji, Nayak, Shalini S., Shah, Hitesh, Ranjan, Akash, Girisha, Katta M., Bhavani, Gandham SriLakshmi, Ghosh, Debasish Kumar
Format: Artigo
Langue:Inglês
Publié: 2023
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7616376/
https://ncbi.nlm.nih.gov/pubmed/37146916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2023.166741
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires