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Impairments in Na+\/K+-ATPase activity are associated with the clinical phenotype. However, it remains unclear whether additional mechanisms are involved in the exaggerated symptoms under stressed conditions in patients with AHC. We herein report that the intracellular loop (ICL) of ATP1A3 interacted with RNA-binding proteins, such as Eif4g (encoded by Eif4g1), Pabpc1 and Fmrp (encoded by Fmr1), in mouse Neuro2a cells. Both the siRNA-mediated depletion of Atp1a3 and ectopic expression of the p.R756C variant of human ATP1A3-ICL in Neuro2a cells resulted in excessive phosphorylation of ribosomal protein S6 (encoded by Rps6) and increased susceptibility to heat stress. In agreement with these findings, induced pluripotent stem cells (iPSCs) from a patient with the p.R756C variant were more vulnerable to heat stress than control iPSCs. Neurons established from the patient-derived iPSCs showed lower calcium influxes in responses to stimulation with ATP than those in control iPSCs. These data indicate that inefficient protein synthesis contributes to the progressive and deteriorating phenotypes in patients with the p.R756C variant among a variety of ATP1A3-related disorders.<\/jats:p>","DOI":"10.1242\/dmm.050574","type":"journal-article","created":{"date-parts":[[2024,5,28]],"date-time":"2024-05-28T12:37:41Z","timestamp":1716899861000},"source":"Crossref","is-referenced-by-count":9,"title":["ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress"],"prefix":"10.1242","volume":"17","author":[{"given":"Fumihiko","family":"Fujii","sequence":"first","affiliation":[{"name":"Graduate School of Medical Sciences, Kyushu University 1 Department of Pediatrics , , Fukuoka, 812-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hikaru","family":"Kanemasa","sequence":"additional","affiliation":[{"name":"Graduate School of Medical Sciences, Kyushu University 1 Department of Pediatrics , , Fukuoka, 812-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayaka","family":"Okuzono","sequence":"additional","affiliation":[{"name":"Graduate School of Medical Sciences, Kyushu University 1 Department of Pediatrics , , Fukuoka, 812-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daiki","family":"Setoyama","sequence":"additional","affiliation":[{"name":"Graduate School of Medical Sciences, Kyushu University 2 Department of Clinical Chemistry and Laboratory Medicine , , Fukuoka, 812-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryoji","family":"Taira","sequence":"additional","affiliation":[{"name":"Graduate School of Medical Sciences, Kyushu University 1 Department of Pediatrics , , Fukuoka, 812-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kousuke","family":"Yonemoto","sequence":"additional","affiliation":[{"name":"Graduate School of Medical Sciences, Kyushu University 1 Department of Pediatrics , , Fukuoka, 812-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshitomo","family":"Motomura","sequence":"additional","affiliation":[{"name":"Graduate School of Medical Sciences, Kyushu University 1 Department of Pediatrics , , Fukuoka, 812-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6529-659X","authenticated-orcid":false,"given":"Hiroki","family":"Kato","sequence":"additional","affiliation":[{"name":"Graduate School of Dental Science, Kyushu University 3 Department of Molecular Cell Biology and Oral Anatomy , , Fukuoka, 812-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiji","family":"Masuda","sequence":"additional","affiliation":[{"name":"Kyushu University 4 Section of Oral Medicine for Children, Division of Oral Health, Growth and Development, Faculty of Dental Science , , Fukuoka, 812-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro A.","family":"Kato","sequence":"additional","affiliation":[{"name":"Graduate School of Medical Sciences, Kyushu University 5 Department of Neuropsychiatry , , Fukuoka, 812-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shouichi","family":"Ohga","sequence":"additional","affiliation":[{"name":"Graduate School of Medical Sciences, Kyushu University 1 Department of Pediatrics , , Fukuoka, 812-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5747-8692","authenticated-orcid":false,"given":"Yasunari","family":"Sakai","sequence":"additional","affiliation":[{"name":"Graduate School of Medical Sciences, Kyushu University 1 Department of Pediatrics , , Fukuoka, 812-8582 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2024,7,2]]},"reference":[{"key":"2024070207415044500_DMM050574C1","doi-asserted-by":"publisher","first-page":"16601","DOI":"10.1096\/fj.202001113R","article-title":"GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons","volume":"34","author":"Akamine","year":"2020","journal-title":"FASEB J."},{"key":"2024070207415044500_DMM050574C2","doi-asserted-by":"publisher","first-page":"104577","DOI":"10.1016\/j.nbd.2019.104577","article-title":"Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition","volume":"132","author":"Arystarkhova","year":"2019","journal-title":"Neurobiol. 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