PMID- 37936920
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231109
IS  - 2573-9832 (Electronic)
IS  - 2573-9832 (Linking)
VI  - 5
IP  - 11
DP  - 2023 Nov
TI  - Antioxidants restore store-operated Ca(2+) entry in patient-iPSC-derived myotubes 
      with tubular aggregate myopathy-associated Ile484ArgfsX21 STIM1 mutation via 
      upregulation of binding immunoglobulin protein.
PG  - 453-469
LID - 10.1096/fba.2023-00069 [doi]
AB  - Store-operated Ca(2+) entry (SOCE) is indispensable for intracellular Ca(2+) 
      homeostasis in skeletal muscle, and constitutive activation of SOCE causes 
      tubular aggregate myopathy (TAM). To understand the pathogenesis of TAM, we 
      induced pluripotent stem cells (iPSCs) from a TAM patient with a rare mutation 
      (c.1450_1451insGA; p. Ile484ArgfsX21) in the STIM1 gene. This frameshift mutation 
      produces a truncated STIM1 with a disrupted C-terminal inhibitory domain (CTID) 
      and was reported to diminish SOCE. Myotubes induced from the patient's-iPSCs (TAM 
      myotubes) showed severely impaired SOCE, but antioxidants greatly restored SOCE 
      partly via upregulation of an endoplasmic reticulum (ER) chaperone, BiP (GRP78), 
      in the TAM myotubes. Our observation suggests that antioxidants are promising 
      tools for treatment of TAM caused by reduced SOCE.
CI  - (c) 2023 The Authors. FASEB BioAdvances published by Wiley Periodicals LLC on 
      behalf of The Federation of American Societies for Experimental Biology.
FAU - Sakai-Takemura, Fusako
AU  - Sakai-Takemura F
AUID- ORCID: 0000-0003-0509-0343
AD  - Department of Molecular Therapy National Institute of Neuroscience, National 
      Center of Neurology and Psychiatry Tokyo Japan.
FAU - Saito, Fumiaki
AU  - Saito F
AUID- ORCID: 0000-0002-5532-6193
AD  - Department of Neurology, School of Medicine Teikyo University Tokyo Japan.
FAU - Nogami, Ken'ichiro
AU  - Nogami K
AD  - Department of Molecular Therapy National Institute of Neuroscience, National 
      Center of Neurology and Psychiatry Tokyo Japan.
AD  - Department of Neurology, Neurological Institute, Graduate School of Medical 
      Science Kyushu University Fukuoka Japan.
FAU - Maruyama, Yusuke
AU  - Maruyama Y
AD  - Department of Molecular Therapy National Institute of Neuroscience, National 
      Center of Neurology and Psychiatry Tokyo Japan.
AD  - Department of Gene Regulation, Faculty of Pharmaceutical Science Tokyo University 
      of Science Chiba Japan.
FAU - Elhussieny, Ahmed
AU  - Elhussieny A
AUID- ORCID: 0000-0002-1192-5282
AD  - Department of Molecular Therapy National Institute of Neuroscience, National 
      Center of Neurology and Psychiatry Tokyo Japan.
AD  - Department of Neurology, Faculty of Medicine Minia University Minia Egypt.
FAU - Matsumura, Kiichiro
AU  - Matsumura K
AUID- ORCID: 0000-0002-5237-8430
AD  - Department of Neurology, School of Medicine Teikyo University Tokyo Japan.
FAU - Takeda, Shin'ichi
AU  - Takeda S
AUID- ORCID: 0000-0003-4780-6290
AD  - Department of Molecular Therapy National Institute of Neuroscience, National 
      Center of Neurology and Psychiatry Tokyo Japan.
FAU - Aoki, Yoshitsugu
AU  - Aoki Y
AUID- ORCID: 0000-0002-9038-7506
AD  - Department of Molecular Therapy National Institute of Neuroscience, National 
      Center of Neurology and Psychiatry Tokyo Japan.
FAU - Miyagoe-Suzuki, Yuko
AU  - Miyagoe-Suzuki Y
AUID- ORCID: 0000-0001-8458-6237
AD  - Department of Molecular Therapy National Institute of Neuroscience, National 
      Center of Neurology and Psychiatry Tokyo Japan.
LA  - eng
PT  - Journal Article
DEP - 20231026
PL  - United States
TA  - FASEB Bioadv
JT  - FASEB bioAdvances
JID - 101733210
PMC - PMC10626159
OTO - NOTNLM
OT  - Stromal interaction molecule 1
OT  - antioxidants
OT  - binding immunoglobulin protein
OT  - calcium
OT  - calcium release-activated calcium channel protein 1 (ORAI1)
OT  - induced pluripotent stem cells
OT  - skeletal muscle
OT  - store-operated Ca2+ entry
OT  - tubular aggregate myopathy
COIS- The authors declare no conflicts of interest.
EDAT- 2023/11/08 06:44
MHDA- 2023/11/08 06:45
PMCR- 2023/10/26
CRDT- 2023/11/08 03:56
PHST- 2023/07/19 00:00 [received]
PHST- 2023/09/27 00:00 [revised]
PHST- 2023/10/11 00:00 [accepted]
PHST- 2023/11/08 06:45 [medline]
PHST- 2023/11/08 06:44 [pubmed]
PHST- 2023/11/08 03:56 [entrez]
PHST- 2023/10/26 00:00 [pmc-release]
AID - FBA21414 [pii]
AID - 10.1096/fba.2023-00069 [doi]
PST - epublish
SO  - FASEB Bioadv. 2023 Oct 26;5(11):453-469. doi: 10.1096/fba.2023-00069. eCollection 
      2023 Nov.