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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 muscles. In Gfpt1-KI mice, (1) UDP-HexNAc, CMP-NeuAc and protein O-GlcNAcylation were reduced in skeletal muscles; (2) aged Gfpt1-KI mice showed poor exercise performance and abnormal neuromuscular junction structures; and (3) markers of the unfolded protein response (UPR) were elevated in skeletal muscles. Denervation-mediated enhancement of endoplasmic reticulum (ER) stress in Gfpt1-KI mice facilitated protein folding, ubiquitin-proteasome degradation and apoptosis, whereas autophagy was not induced and protein aggregates were markedly increased. Lack of autophagy was accounted for by enhanced degradation of FoxO1 by increased Xbp1-s\/u proteins. Similarly, in Gfpt1-silenced C2C12 myotubes, ER stress exacerbated protein aggregates and activated apoptosis, but autophagy was attenuated. In both skeletal muscles in Gfpt1-KI mice and Gfpt1-silenced C2C12 myotubes, maladaptive UPR failed to eliminate protein aggregates and provoked apoptosis.<\/jats:p>","DOI":"10.1242\/dmm.050768","type":"journal-article","created":{"date-parts":[[2024,6,21]],"date-time":"2024-06-21T03:31:55Z","timestamp":1718940715000},"source":"Crossref","is-referenced-by-count":10,"title":["Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation"],"prefix":"10.1242","volume":"17","author":[{"given":"Ruchen","family":"Zhang","sequence":"first","affiliation":[{"name":"Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine 1 Division of Neurogenetics , , Nagoya 466-8550 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paniz","family":"Farshadyeganeh","sequence":"additional","affiliation":[{"name":"Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine 1 Division of Neurogenetics , , Nagoya 466-8550 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bisei","family":"Ohkawara","sequence":"additional","affiliation":[{"name":"Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine 1 Division of Neurogenetics , , Nagoya 466-8550 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuki","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Institute for Glyco-core Research (iGCORE), Gifu University 2 , Gifu 501-1193 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun-ichi","family":"Takeda","sequence":"additional","affiliation":[{"name":"Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine 1 Division of Neurogenetics , , Nagoya 466-8550 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikako","family":"Ito","sequence":"additional","affiliation":[{"name":"Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine 1 Division of Neurogenetics , , Nagoya 466-8550 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaochuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine 1 Division of Neurogenetics , , Nagoya 466-8550 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Miyasaka","sequence":"additional","affiliation":[{"name":"Nagoya University Graduate School of Medicine 3 Division of Experimental Animals , , Nagoya 466-8550 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamio","family":"Ohno","sequence":"additional","affiliation":[{"name":"Nagoya University Graduate School of Medicine 3 Division of Experimental Animals , , Nagoya 466-8550 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madoka","family":"Mori-Yoshimura","sequence":"additional","affiliation":[{"name":"National Center Hospital, National Center of Neurology and Psychiatry 4 Department of Neurology , , Kodaira 187-8775 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6437-2853","authenticated-orcid":false,"given":"Akio","family":"Masuda","sequence":"additional","affiliation":[{"name":"Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine 1 Division of Neurogenetics , , Nagoya 466-8550 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1529-2750","authenticated-orcid":false,"given":"Kinji","family":"Ohno","sequence":"additional","affiliation":[{"name":"Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine 1 Division of Neurogenetics , , Nagoya 466-8550 , Japan"},{"name":"Graduate School of Nutritional Sciences, Nagoya University of Arts and Sciences 5 , Nisshin 470-0196 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2024,7,25]]},"reference":[{"key":"2024072508102706300_DMM050768C1","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1111\/febs.14358","article-title":"ER stress in skeletal muscle remodeling and myopathies","volume":"286","author":"Afroze","year":"2019","journal-title":"FEBS J."},{"key":"2024072508102706300_DMM050768C2","doi-asserted-by":"publisher","first-page":"101796","DOI":"10.1016\/j.jbc.2022.101796","article-title":"Mechanisms tailoring the expression of heat shock proteins to proteostasis challenges","volume":"298","author":"Alagar Boopathy","year":"2022","journal-title":"J. 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