Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

Agustín Hidalgo-Gutiérrez Jonathan Shintaku Javier Ramón Eliana Barriocanal-Casado Alba Pesini Russell P Saneto Gloria Garrabou Jose Cesar MilisendaAna Matas-GarciaLaura Gort Olatz UgarteburuYue GuLahari KogantiTian WangSaba TadesseMegi Meneri Monica Sciacco Shuang Wang Kurenai Tanji Marshall S HorwitzMichael O DorschnerMahesh M Mansukhani Giacomo Pietro Comi Dario Ronchi Ramon Ramon Antonia Ribes Frederic Tort Michio Hirano

Published in: Annals of neurology (2024)

Primary GUK1 deficiency is a new and potentially treatable cause of MDDS. The cytosolic isoform of GUK1 may contribute to the T-lymphocyte abnormality, which has not been observed in other MDDS disorders. ANN NEUROL 2024.

Keyphrases

mitochondrial dna
copy number
peripheral blood
protein kinase
tyrosine kinase
gene expression
dna methylation