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

SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics

SLC35A2功能缺失变异体影响糖组学特征、神经元命运和网络动力学

Lai, Dulcie; Sosicka, Paulina; Williams, Damian J; Bowyer, MaryAnn E; Ressler, Andrew K; Kohrt, Sarah E; Muron, Savannah J; Crino, Peter B; Freeze, Hudson H; Boland, Michael J; Heinzen, Erin L

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.

MAN2A2 的纯合截断变异会导致一种新的先天性糖基化障碍,并伴有神经系统受累

Mahajan Sonal, Ng Bobby George, AlAbdi Lama, Earnest Paul Daniel James, Sosicka Paulina, Patel Nisha, Helaby Rana, Abdulwahab Firdous, He Miao, Alkuraya Fowzan S, Freeze Hudson H

Chemical Therapies for Congenital Disorders of Glycosylation

先天性糖基化障碍的化学疗法

Sosicka, Paulina; Ng, Bobby G; Freeze, Hudson H

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

SLC37A4基因突变会导致一种常染色体显性遗传的先天性糖基化障碍,其特征是肝功能障碍。

Ng, Bobby G; Sosicka, Paulina; Fenaille, François; Harroche, Annie; Vuillaumier-Barrot, Sandrine; Porterfield, Mindy; Xia, Zhi-Jie; Wagner, Shannon; Bamshad, Michael J; Vergnes-Boiteux, Marie-Christine; Cholet, Sophie; Dalton, Stephen; Dell, Anne; Dupré, Thierry; Fiore, Mathieu; Haslam, Stuart M; Huguenin, Yohann; Kumagai, Tadahiro; Kulik, Michael; McGoogan, Katherine; Michot, Caroline; Nickerson, Deborah A; Pascreau, Tiffany; Borgel, Delphine; Raymond, Kimiyo; Warad, Deepti; Flanagan-Steet, Heather; Steet, Richard; Tiemeyer, Michael; Seta, Nathalie; Bruneel, Arnaud; Freeze, Hudson H

Biosynthesis of GlcNAc-rich N- and O-glycans in the Golgi apparatus does not require the nucleotide sugar transporter SLC35A3

高尔基体中富含 GlcNAc 的 N- 和 O-聚糖的生物合成不需要核苷酸糖转运蛋白 SLC35A3。

Szulc, Bozena; Sosicka, Paulina; Maszczak-Seneczko, Dorota; Skurska, Edyta; Shauchuk, Auhen; Olczak, Teresa; Freeze, Hudson H; Olczak, Mariusz

Therapeutic Monosaccharides: Looking Back, Moving Forward

治疗性单糖:回顾与展望

Sosicka, Paulina; Ng, Bobby G; Freeze, Hudson H

N-acetylglucosaminyltransferases and nucleotide sugar transporters form multi-enzyme-multi-transporter assemblies in golgi membranes in vivo

在体内,N-乙酰氨基葡萄糖转移酶和核苷酸糖转运蛋白在戈尔基体膜上形成多酶-多转运蛋白复合物。

Khoder-Agha, Fawzi; Sosicka, Paulina; Escriva Conde, Maria; Hassinen, Antti; Glumoff, Tuomo; Olczak, Mariusz; Kellokumpu, Sakari

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

SLC35A2-CDG:30例未报道个体的功能表征、扩展的分子、临床和生化表型

Ng, Bobby G; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A; Barone, Rita; Botto, Lorenzo D; Burton, Jennifer E; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S; Coman, David; Dipple, Katrina M; Dorrani, Naghmeh; Dobyns, William B; Elias, Abdallah F; Epstein, Leon; Gahl, William A; Garozzo, Domenico; Hammer, Trine Bjørg; Haven, Jaclyn; Héron, Delphine; Herzog, Matthew; Hoganson, George E; Hunter, Jesse M; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenço, Charles Marques; Mak, Christopher C Y; McKnight, Dianalee; Mendelsohn, Bryce A; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F; Olczak, Mariusz; Palmer, Christina G S; Partikian, Arthur; Patterson, Marc C; Pierson, Tyler M; Quinonez, Shane C; Regan, Brigid M; Ross, M Elizabeth; Guillen Sacoto, Maria J; Scaglia, Fernando; Scheffer, Ingrid E; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A; Yang, Hui; Yano, Shoji; Powis, Zöe; Suchy, Sharon F; Rosenfeld, Jill A; Edmondson, Andrew C; Grunewald, Stephanie; Freeze, Hudson H