Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism

Coenzyme Q5 (COQ5), a C-methyltransferase, modifies coenzyme Q10 (COQ10) during biosynthesis and interacts with polyA-tail regulating zinc-finger protein ZC3H14 in neural development. Here, we present a fifth patient (a third family) worldwide with neurodevelopmental and physiological symptoms inclu...

Descripción completa

Detalles Bibliográficos
Autores principales: Dawidziuk, Mateusz, Podwysocka, Aleksandra, Jurek, Marta, Obersztyn, Ewa, Bekiesinska-Figatowska, Monika, Goszczanska-Ciuchta, Alicja, Bukowska-Olech, Ewelina, Rygiel, Agnieszka Magdalena, Guilbride, Dorothy Lys, Wiszniewski, Wojciech, Gawlinski, Pawel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Human Genetics • Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10457220/
https://www.ncbi.nlm.nih.gov/pubmed/37599337
http://dx.doi.org/10.1007/s13353-023-00773-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10457220/
https://www.ncbi.nlm.nih.gov/pubmed/37599337
http://dx.doi.org/10.1007/s13353-023-00773-9

Ejemplares similares