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Communications Biology|June 23, 2022
Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunitDavid Molina-Granada, Emiliano González-Vioque, Marris G Dibley, et al.
Plos One|October 20, 2010
Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutationGisela Nogales-Gadea, Emma Mormeneo, Inés García-Consuegra, et al.
Annals of Neurology|September 24, 2005
Late-onset MNGIE due to partial loss of thymidine phosphorylase activityRamon Martí, Jan J G M Verschuuren, Alan Buchman, et al.
Journal of the Neurological Sciences|December 21, 2004
A novel thymidine phosphorylase mutation in a Spanish MNGIE patientJosep Gamez, Maria Carmen Lara, Fermin Mearin, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|January 29, 2019
Adipocyte MTERF4 regulates non-shivering adaptive thermogenesis and sympathetic-dependent glucose homeostasisAnna Castillo, Maria Vilà, Inés Pedriza, et al.
Journal of Human Genetics|March 24, 2023
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance patternJuan Luis Restrepo-Vera, Eulàlia Rovira-Moreno, Javier Ramón, et al.
Redox Biology|March 5, 2018
Cardiomyocyte hypertrophy induced by Endonuclease G deficiency requires reactive oxygen radicals accumulation and is inhibitable by the micropeptide humaninNatividad Blasco, Yolanda Cámara, Estefanía Núñez, et al.
Brain : a Journal of Neurology|April 2, 2013
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 geneMaria J Melià, Akatsuki Kubota, Saida Ortolano, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology|June 28, 2014
Downregulation of duodenal SLC transporters and activation of proinflammatory signaling constitute the early response to high altitude in humansKacper A Wojtal, Alexandra Cee, Silvia Lang, et al.
Journal of Experimental & Clinical Cancer Research : CR|October 18, 2025
NK-A 17E-233I: a novel competitive inhibitor of human dihydroorotate dehydrogenase (DHODH) for cancer therapyMohammed Moustapha Anwar, Salvador Meseguer, Néstor García-Rodríguez, et al.
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