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

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

阐明 HYAL2 缺陷的临床表现和分子基础

James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth Zahka, Barry A Chioza, Lettie E Rawlins, Olivia K Wenger, Adam C Gunning, Simone Pizzi, Roberta Onesimo, Giuseppe Zampino, Emily Barker, Natas

Increased phosphorylation of HexM improves lysosomal uptake and potential for managing GM2 gangliosidoses

HexM 磷酸化水平提高,可改善溶酶体摄取,提高治疗 GM2 神经节苷脂沉积症的潜力

Graeme Benzie, Kristen Bouma, Taylor Battellino, Steven Cooper, Rick Hemming, Wafa Kammouni, Lin Liu, Cuong Do, Mazdak Khajehpour, Helene Perreault, Stuart Kornfeld, Barbara Triggs-Raine, Brian L Mark