{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T14:18:27Z","timestamp":1780755507530,"version":"3.54.1"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,11,22]],"date-time":"2020-11-22T00:00:00Z","timestamp":1606003200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["KAKENHI Grant Number 26870398"],"award-info":[{"award-number":["KAKENHI Grant Number 26870398"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:p>UDP\u2010<jats:italic>N<\/jats:italic>\u2010acetylglucosamine 2\u2010epimerase\/<jats:italic>N<\/jats:italic>\u2010acetylmannosamine kinase (GNE) is necessary for sialic acid biosynthesis. GNE myopathy is caused by a defect in <jats:italic>GNE<\/jats:italic>, and hyposialylation is a key factor in the pathomechanism of GNE myopathy. Although candidates for evaluating hyposialylation have been reported, it is difficult to measure them in routine clinical practice. Sialylation is necessary for synthesis of various glycoproteins, including Krebs von den Lungen\u20106 (KL\u20106)\/mucin 1 (MUC1). Here we report that KL\u20106\/MUC1 is decreased in GNE myopathy. We observed that KL\u20106 levels were decreased in the serum of patients with GNE myopathy, and that KL\u20106 and MUC1\u2010C were also decreased in muscle biopsy specimens from these patients. An immunofluorescent study revealed that KL\u20106 and MUC1\u2010C were not present in the sarcolemma but were, instead, localized in rimmed vacuoles in specimens from patients with GNE myopathy. KL\u20106 is already used to detect lung diseases in clinical practice, and this glycoprotein may be a novel candidate for evaluating hyposialylation in GNE myopathy.<\/jats:p>","DOI":"10.1111\/neup.12703","type":"journal-article","created":{"date-parts":[[2020,11,23]],"date-time":"2020-11-23T01:55:25Z","timestamp":1606096525000},"page":"29-36","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Krebs von den Lungen 6 decreased in the serum and muscle of <scp>GNE<\/scp> myopathy patients"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5206-5979","authenticated-orcid":false,"given":"Takashi","family":"Kurashige","sequence":"first","affiliation":[{"name":"Department of Neurology National Hospital Organization Kure Medical Center and Chugoku Cancer Center  Kure, Hiroshima Japan"},{"name":"Department of Clinical Neuroscience and Therapeutics, Division of Applied Life Science Hiroshima 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