%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/