[HTML][HTML] Inherited disorders of coenzyme A biosynthesis: models, mechanisms, and treatments

C Cavestro, D Diodato, V Tiranti, I Di Meo - International Journal of …, 2023 - mdpi.com
Coenzyme A (CoA) is a vital and ubiquitous cofactor required in a vast number of enzymatic
reactions and cellular processes. To date, four rare human inborn errors of CoA biosynthesis …

[HTML][HTML] CoA synthase plays a critical role in neurodevelopment and neurodegeneration

C Cavestro, M D'Amato, MN Colombo… - Frontiers in Cellular …, 2024 - frontiersin.org
Coenzyme A (CoA), which is widely distributed and vital for cellular metabolism, is a critical
molecule essential in both synthesizing and breaking down key energy sources in the body …

Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases

C Cavestro, F Morra, A Legati… - Annals of Clinical …, 2024 - Wiley Online Library
Objective COASY, the gene encoding the bifunctional enzyme CoA synthase, which
catalyzes the last two reactions of cellular de novo coenzyme A (CoA) biosynthesis, has …

Comprehensive mapping of human genetic variation at Epromoters

J Wan - 2024 - hal.science
Transcription represents the most intricate biological process within the central dogma.
Transcriptional regulation controls gene expression, determining whether genes are …