Predicting and Understanding the Pathology of Single Nucleotide Variants in Human <i>COQ</i> Genes

• Prif Awduron: Sining Wang (Awdur), Akash Jain (Awdur), Noelle Alexa Novales (Awdur), Audrey N. Nashner (Awdur), Fiona Tran (Awdur), Catherine F. Clarke (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: MDPI AG, 2022-11-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

Coenzyme Q (CoQ) is a vital lipid that functions as an electron carrier in the mitochondrial electron transport chain and as a membrane-soluble antioxidant. Deficiencies in CoQ lead to metabolic diseases with a wide range of clinical manifestations. There are currently few treatments that can slow o...