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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...

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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

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