Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1

por Okuma, Hidehiko, Saito, Fumiaki, Mitsui, Jun, Hara, Yuji, Hatanaka, Yuki, Ikeda, Miki, Shimizu, Teruo, Matsumura, Kiichiro, Shimizu, Jun, Tsuji, Shoji, Sonoo, Masahiro
Publicado 2016

Large1 gene transfer in older myd mice with severe muscular dystrophy restores muscle function and greatly improves survival

por Yonekawa, Takahiro, Rauckhorst, Adam J., El-Hattab, Sara, Cuellar, Marco A., Venzke, David, Anderson, Mary E., Okuma, Hidehiko, Pewa, Alvin D., Taylor, Eric B., Campbell, Kevin P.
Publicado 2022

N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy

por Okuma, Hidehiko, Hord, Jeffrey M, Chandel, Ishita, Venzke, David, Anderson, Mary E, Walimbe, Ameya S, Joseph, Soumya, Gastel, Zeita, Hara, Yuji, Saito, Fumiaki, Matsumura, Kiichiro, Campbell, Kevin P
Publicado 2023

POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan

por Walimbe, Ameya S, Okuma, Hidehiko, Joseph, Soumya, Yang, Tiandi, Yonekawa, Takahiro, Hord, Jeffrey M, Venzke, David, Anderson, Mary E, Torelli, Silvia, Manzur, Adnan, Devereaux, Megan, Cuellar, Marco, Prouty, Sally, Ocampo Landa, Saul, Yu, Liping, Xiao, Junyu, Dixon, Jack E, Muntoni, Francesco, Campbell, Kevin P
Publicado 2020