{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:57:46Z","timestamp":1791295066115,"version":"4.1.0"},"reference-count":43,"publisher":"The Company of Biologists","issue":"22","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,11,15]]},"abstract":"<jats:p>Mutations in LMNA, which encodes A-type nuclear lamins, cause various human diseases, including myopathy, cardiomyopathy, lipodystrophy and progeria syndrome. To date, little is known about how mutations in a single gene cause a wide variety of diseases. Here, by characterizing an antibody that specifically recognizes the phosphorylation of Ser458 of A-type lamins, we uncover findings that might contribute to our understanding of laminopathies. This antibody only reacts with nuclei in muscle biopsies from myopathy patients with mutations in the Ig-fold motif of A-type lamins. Ser458 phosphorylation is not seen in muscles from control patients or patients with any other neuromuscular diseases. In vitro analysis confirmed that only lamin A mutants associated with myopathy induce phosphorylation of Ser458, whereas lipodystrophy- or progeria-associated mutants do not. We also found that Akt1 directly phosphorylates Ser458 of lamin A with myopathy-related mutations in vitro. These results suggest that Ser458 phosphorylation of A-type lamins correlates with striated muscle laminopathies; this might be useful for the early diagnosis of LMNA-associated myopathies. We propose that disease-specific phosphorylation of A-type lamins by Akt1 contributes to myopathy caused by LMNA mutations.<\/jats:p>","DOI":"10.1242\/jcs.072157","type":"journal-article","created":{"date-parts":[[2010,10,28]],"date-time":"2010-10-28T02:04:25Z","timestamp":1288231465000},"page":"3893-3900","source":"Crossref","is-referenced-by-count":33,"title":["Specific phosphorylation of Ser458 of A-type lamins in<i>LMNA<\/i>-associated myopathy patients"],"prefix":"10.1242","volume":"123","author":[{"given":"Hiroaki","family":"Mitsuhashi","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukiko K.","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chie","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Neuroscience Research Institute, AIST, Central 6, Tsukuba, Ibaraki 305-8566, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoru","family":"Noguchi","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuji","family":"Wakatsuki","sequence":"additional","affiliation":[{"name":"Department of Peripheral Nervous System Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Araki","sequence":"additional","affiliation":[{"name":"Department of Peripheral Nervous System Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","reference":[{"key":"2021042521143723200_R1","doi-asserted-by":"crossref","first-page":"31515","DOI":"10.1074\/jbc.272.50.31515","article-title":"Role of translocation in the activation and function of protein kinase B","volume":"272","author":"Andjelkovic","year":"1997","journal-title":"J. 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