{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T09:05:07Z","timestamp":1788599107688,"version":"build-2803163510"},"reference-count":24,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T00:00:00Z","timestamp":1762905600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T00:00:00Z","timestamp":1762905600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Scientific Research Projects Coordination Unit of Istanbul University","award":["TOA-2019-33507"],"award-info":[{"award-number":["TOA-2019-33507"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:p>\n                    Homozygous\n                    <jats:italic toggle=\"yes\">KY<\/jats:italic>\n                    variants have been described to cause congenital myopathy, myofibrillar myopathy type 7, and hereditary spastic paraplegia. We report the findings in two families harboring the homozygous missense NM_178554.4:c.727T\u2009&gt;\u2009C p.(Cys243Arg) and splice site NM_178554.4:c.710\u2009+\u20091G\u2009&gt;\u2009A\n                    <jats:italic toggle=\"yes\">KY<\/jats:italic>\n                    variants leading to early-onset myopathy with equinovarus deformity, lateral tongue atrophy, kyphoscoliosis, and contractures. Myopathological examination showed a myopathic pattern in conjunction with fibers containing eosinophilic sarcoplasmic inclusions positive for kyphoscoliosis peptidase and filamin-C but not desmin, myofibrillar degeneration, and focal mitochondrial loss. Kyphoscoliosis peptidase protein expression levels were markedly reduced, and\n                    <jats:italic toggle=\"yes\">in silico<\/jats:italic>\n                    analysis of the predicted protein variants suggested impairment of the kyphoscoliosis peptidase catalytic triad.\n                  <\/jats:p>","DOI":"10.1177\/22143602251387026","type":"journal-article","created":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T17:13:06Z","timestamp":1762967586000},"page":"795-801","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6426-676X","authenticated-orcid":false,"given":"Hacer","family":"Durmu\u015f","sequence":"first","affiliation":[{"name":"Istanbul University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1291-4219","authenticated-orcid":false,"given":"Christoph S","family":"Clemen","sequence":"additional","affiliation":[{"name":"German Aerospace Centre (DLR)"},{"name":"Institute of Vegetative Physiology, Medical Faculty, University of Cologne, Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1152-4881","authenticated-orcid":false,"given":"Evren \u00d6nay","family":"U\u00e7ar","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics, Faculty of Science, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4408-5467","authenticated-orcid":false,"given":"Andreas","family":"Hofmann","sequence":"additional","affiliation":[{"name":"The University of Melbourne"},{"name":"National Reference Centre for Authentic 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A","family":"Sewry","sequence":"additional","affiliation":[{"name":"UCL Institute of Child Health and Great Ormond Street Hospital"},{"name":"Wolfson Centre of Inherited Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, UK"},{"name":"Cellular Pathology, Royal Salford Hospital, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2772-2615","authenticated-orcid":false,"given":"Rolf","family":"Schr\u00f6der","sequence":"additional","affiliation":[{"name":"Friedrich-Alexander University Erlangen-N\u00fcrnberg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yesim","family":"Parman","sequence":"additional","affiliation":[{"name":"Istanbul 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