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Keywords: Neuromuscular junction (NMJ)
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Journal Articles

Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation

In collection:
Neuromuscular Disease , Rare Disease Translational Research
Ruchen Zhang, Paniz Farshadyeganeh, Bisei Ohkawara, Kazuki Nakajima, Jun-ichi Takeda, Mikako Ito, Shaochuan Zhang, Yuki Miyasaka, Tamio Ohno, Madoka Mori-Yoshimura, Akio Masuda, Kinji Ohno
Journal: Disease Models & Mechanisms
Dis Model Mech (2024) 17 (8): dmm050768.
https://doi.org/10.1242/dmm.050768
Published: 25 July 2024
... with aging, which was accounted for by the induction of ER stress and maladaptive UPR. Congenital myasthenic syndromes (CMSs) are rare and heterogeneous inherited neuromuscular disorders caused by pathogenic variants in molecules expressed at the neuromuscular junction (NMJ) ( Ohno et al., 2023...
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Includes: Supplementary data