Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Daniel J.M. Fernández‐Ayala"'
Autor:
Juan Diego Hernández‐Camacho, Cristina Vicente‐García, Lorena Ardila‐García, Ana Padilla‐Campos, Guillermo López‐Lluch, Carlos Santos‐Ocaña, Peter S. Zammit, Jaime J. Carvajal, Plácido Navas, Daniel J.M. Fernández‐Ayala
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 15, Iss 6, Pp 2402-2416 (2024)
Abstract Background ADCK genes encode aarF domain‐containing mitochondrial kinases involved in coenzyme Q (CoQ) biosynthesis and regulation. Haploinsufficiency of ADCK2 in humans leads to adult‐onset physical incapacity with reduced mitochondrial
Externí odkaz:
https://doaj.org/article/7c71afc86b444911a4efedc1c6edb74c
Autor:
María Alcázar-Fabra, Elsebet Østergaard, Daniel J.M. Fernández-Ayala, María Andrea Desbats, Valeria Morbidoni, Laura Tomás-Gallado, Laura García-Corzo, María del Mar Blanquer-Roselló, Abigail K. Bartlett, Ana Sánchez-Cuesta, Lucía Sena, Ana Cortés-Rodríguez, María Victoria Cascajo-Almenara, David J. Pagliarini, Eva Trevisson, Sabine W. Gronborg, Gloria Brea-Calvo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 42, Iss , Pp 101176- (2025)
Background and aims: Primary Coenzyme Q (CoQ) deficiency caused by COQ4 defects is a clinically heterogeneous mitochondrial condition characterized by reduced levels of CoQ10 in tissues. Next-generation sequencing has lately boosted the genetic diagn
Externí odkaz:
https://doaj.org/article/8e9ebca35a5643d38b1e7d6f04a09cd9
Autor:
Juan Diego Hernández-Camacho, Cristina Vicente-García, Peter S. Zammit, Guillermo López-Lluch, Jaime Carvajal, Daniel J.M. Fernández-Ayala, Plácido Navas
Publikováno v:
Free Radical Biology and Medicine. 198:S10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99940934beb9ff856847695053456fc8
https://doi.org/10.1016/j.freeradbiomed.2022.12.043
https://doi.org/10.1016/j.freeradbiomed.2022.12.043