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

Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy

ClC-2/MLC1亚基GlialCAM参与脑白质营养不良的相互作用、运输和功能的结构决定因素

Capdevila-Nortes, Xavier; Jeworutzki, Elena; Elorza-Vidal, Xabier; Barrallo-Gimeno, Alejandro; Pusch, Michael; Estévez, Raúl

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit

胶质细胞黏附分子(GlialCAM)是一种在脑白质营养不良症中存在缺陷的蛋白质,它作为ClC-2氯离子通道的辅助亚基发挥作用。

Jeworutzki, Elena; López-Hernández, Tania; Capdevila-Nortes, Xavier; Sirisi, Sònia; Bengtsson, Luiza; Montolio, Marisol; Zifarelli, Giovanni; Arnedo, Tanit; Müller, Catrin S; Schulte, Uwe; Nunes, Virginia; Martínez, Albert; Jentsch, Thomas J; Gasull, Xavier; Pusch, Michael; Estévez, Raúl

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

突变型 GlialCAM 可导致伴有皮质下囊肿的巨脑性白质脑病、良性家族性巨头畸形以及伴有智力低下和自闭症的巨头畸形。

López-Hernández, Tania; Ridder, Margreet C; Montolio, Marisol; Capdevila-Nortes, Xavier; Polder, Emiel; Sirisi, Sònia; Duarri, Anna; Schulte, Uwe; Fakler, Bernd; Nunes, Virginia; Scheper, Gert C; Martínez, Albert; Estévez, Raúl; van der Knaap, Marjo S

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model

敲除原代星形胶质细胞中的 MLC1 会导致细胞空泡化:一种 MLC 疾病细胞模型

Duarri, Anna; Lopez de Heredia, Miguel; Capdevila-Nortes, Xavier; Ridder, Margreet C; Montolio, Marisol; López-Hernández, Tania; Boor, Ilja; Lien, Chun-Fu; Hagemann, Tracy; Messing, Albee; Gorecki, Dariusz C; Scheper, Gert C; Martínez, Albert; Nunes, Virginia; van der Knaap, Marjo S; Estévez, Raúl