日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia

一种新的Aprataxin复合杂合突变导致缓慢进展性共济失调,但不伴有眼动失用症

Satolli, Sara; De Micco, Rosa; Galatolo, Daniele; Tessa, Alessandra; Cirillo, Mario; Tessitore, Alessandro; Santorelli, Filippo Maria

Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.

Aprataxin 可修复腺苷酸化的 RNA-DNA 连接处,从而维持基因组完整性。

Aprataxin localizes to mitochondria and preserves mitochondrial function

Aprataxin 定位于线粒体并保留线粒体功能

Peter Sykora, Deborah L Croteau, Vilhelm A Bohr, David M Wilson 3rd

Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends

Aprataxin 是 EAOH/AOA1 的致病基因产物,可修复 3'-磷酸和 3'-磷酸乙醇酸末端受损的 DNA 单链断裂

Tetsuya Takahashi, Masayoshi Tada, Shuichi Igarashi, Akihide Koyama, Hidetoshi Date, Akio Yokoseki, Atsushi Shiga, Yutaka Yoshida, Shoji Tsuji, Masatoyo Nishizawa, Osamu Onodera

Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin

疾病相关突变会使Aprataxin的AMP-赖氨酸水解酶活性失活。

Seidle, Heather F; Bieganowski, Pawel; Brenner, Charles