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Keywords: Congenital myasthenic syndrome (CMS)
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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
...-GlcNAc), cause congenital myasthenic syndrome (CMS). We made a knock-in (KI) mouse model carrying a frameshift variant in Gfpt1 exon 9, simulating that found in a patient with CMS. As Gfpt1 exon 9 is exclusively expressed in striated muscles, Gfpt1 -KI mice were deficient for Gfpt1 only in skeletal...
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Includes: Supplementary data