%0 Journal Article %T DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria %A Alejandro Leal %A Luis Berm¨˛dez-Guzm¨˘n %J Archive of "Translational Neurodegeneration". %D 2019 %R 10.1186/s40035-019-0156-x %X a Schematic representation of the functional domains of PNKP. We reported five unrelated patients with CMT2 disease, who were compound heterozygotes for the p.Thr408del (exon 14) and p.Gln517ter * (exon 17) variants [2]. Homozygous individuals for the p.Thr408del variant present Ataxia-ocular motor apraxia 4 (AOA4) [3]. b Enzymatic role of PNKP. The enzyme catalyzes the 3ˇä-phosphate termini dephosphorylation and the phosphorylation of 5ˇä-OH terminal by using ATP as the phosphate donor. Mitochondrial-targeting signal (MTS) is a necessary region for PNKP translocation to mitochondria. FHA: Fork-head-associated domai %K DNA repair %K Mitochondrial dysfunction %K Neurodegeneration %K Ataxia %K PNKP %U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511134/