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

Normal transferrin glycosylation does not rule out severe ALG1 deficiency

转铁蛋白糖基化正常不能排除严重 ALG1 缺乏症

Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, Eva Morava

N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts

N-糖蛋白质组学揭示 NGLY1 缺陷患者真皮成纤维细胞中存在明显的糖基化改变

Rohit Budhraja, Mayank Saraswat, Diederik De Graef, Wasantha Ranatunga, Madan G Ramarajan, Jehan Mousa, Tamas Kozicz, Akhilesh Pandey, Eva Morava

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG

PMM2-CDG 中受损细胞生物能量学和自噬的相互作用

Anna N Ligezka, Rohit Budhraja, Yurika Nishiyama, Fabienne C Fiesel, Graeme Preston, Andrew Edmondson, Wasantha Ranatunga, Johan L K Van Hove, Jens O Watzlawik, Wolfdieter Springer, Akhilesh Pandey, Eva Morava, Tamas Kozicz

Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation

扩大 DPM2 缺陷型先天性糖基化障碍的临床和代谢表型

Silvia Radenkovic, Taylor Fitzpatrick-Schmidt, Seul Kee Byeon, Anil K Madugundu, Mayank Saraswat, Angie Lichty, Sunnie Y W Wong, Stephen McGee, Katharine Kubiak, Anna Ligezka, Wasantha Ranatunga, Yuebo Zhang, Tim Wood, Michael J Friez, Katie Clarkson, Akhilesh Pandey, Julie R Jones, Eva Morava