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

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

NAA60双等位基因变异导致N端乙酰化能力受损,从而引起常染色体隐性遗传性原发性家族性脑钙化。

Viorica Chelban #,Henriette Aksnes #,Reza Maroofian,Lauren C LaMonica,Luis Seabra,Anette Siggervåg,Perrine Devic,Hanan E Shamseldin,Jana Vandrovcova,David Murphy,Anne-Claire Richard,Olivier Quenez,Antoine Bonnevalle,M Natalia Zanetti,Rauan Kaiyrzhanov  ,Vincenzo Salpietro,Stephanie Efthymiou,Lucia V Schottlaender    ,Heba Morsy  ,Annarita Scardamaglia,Ambreen Tariq,Alistair T Pagnamenta,Ajia Pennavaria,Liv S Krogstad,Åse K Bekkelund,Alessia Caiella,Nina Glomnes  ,Kirsten M Brønstad,Sandrine Tury,Andrés Moreno De Luca  0 ,Anne Boland-Auge,Robert Olaso,Jean-François Deleuze,Mathieu Anheim    ,Benjamin Cretin    ,Barbara Vona  ,Fahad Alajlan,Firdous Abdulwahab,Jean-Luc Battini,Rojan İpek,Peter Bauer,Giovanni Zifarelli,Serdal Gungor,Semra Hiz Kurul,Hanns Lochmuller    ,Sahar I Da'as  ,Khalid A Fakhro    ,Alicia Gómez-Pascual,Juan A Botía,Nicholas W Wood  0 ,Rita Horvath,Andreas M Ernst  ,James E Rothman  ,Meriel McEntagart,Yanick J Crow  ,Fowzan S Alkuraya  ,Gaël Nicolas  ; SYNaPS Study Group; Thomas Arnesen  ,Henry Houlden

Efficient and crucial quality control of HAP1 cell ploidy status

对HAP1细胞倍性状态进行高效且关键的质量控制

Tobias B Beigl,Ine Kjosås,Emilie Seljeseth,Nina Glomnes,Henriette Aksnes

NAA80 is actin's N-terminal acetyltransferase and regulates cytoskeleton assembly and cell motility

NAA80是肌动蛋白的N端乙酰转移酶,它调节细胞骨架组装和细胞运动。

Drazic, Adrian; Aksnes, Henriette; Marie, Michaël; Boczkowska, Malgorzata; Varland, Sylvia; Timmerman, Evy; Foyn, Håvard; Glomnes, Nina; Rebowski, Grzegorz; Impens, Francis; Gevaert, Kris; Dominguez, Roberto; Arnesen, Thomas

A Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutant

酿酒酵母模型揭示了 Ogden 综合征 N 端乙酰转移酶 NAA10 Ser37Pro 突变体的体内功能障碍

Petra Van Damme, Svein I Støve, Nina Glomnes, Kris Gevaert, Thomas Arnesen

Protein N-terminal acetyltransferases act as N-terminal propionyltransferases in vitro and in vivo

蛋白质N端乙酰转移酶在体外和体内均发挥N端丙酰转移酶的作用。

Foyn, Håvard; Van Damme, Petra; Støve, Svein I; Glomnes, Nina; Evjenth, Rune; Gevaert, Kris; Arnesen, Thomas