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2013 2
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Page 1
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M. Celeste FV, et al. Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. Hum Mutat. 2014. PMID: 24796702 Free PMC article. Review.
All variants were deposited in the online GNE variation database (http://www.dmd.nl/nmdb2/home.php?select_db=GNE). We report the predicted effects on protein function of all variants well as the predicted effects on epimerase and/or kinase enzymatic activities of se …
All variants were deposited in the online GNE variation database (http://www.dmd.nl/nmdb2/home.php?select_db=GNE). We report the predicte …
Early and consistent pattern of proximal weakness in GNE myopathy.
Khadilkar SV, Chaudhari AD, Singla MB, Dastur RS, Gaitonde PS, Bhutada AG, Hegde MR. Khadilkar SV, et al. Muscle Nerve. 2021 Feb;63(2):199-203. doi: 10.1002/mus.27117. Epub 2020 Nov 28. Muscle Nerve. 2021. PMID: 33197058
The knee extensors were largely unaffected. The proximal weakness appeared early in the course of the disease. Proximal muscle weakness was also present in the remaining 34 patients in whom the data were limited. ...
The knee extensors were largely unaffected. The proximal weakness appeared early in the course of the disease. Proximal muscle weakne …
GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?
Mitrani-Rosenbaum S, Attali R, Argov Z. Mitrani-Rosenbaum S, et al. Neuromuscul Disord. 2023 Oct;33(10):762-768. doi: 10.1016/j.nmd.2023.08.013. Epub 2023 Aug 27. Neuromuscul Disord. 2023. PMID: 37666692
Although unable to unravel robust candidate genes, mostly because of the very low number of asymptomatic individuals analyzed, and because of the tissue analyzed (blood and not muscle), this study resulted in relatively restricted potential candidate protective genes, emphasizing …
Although unable to unravel robust candidate genes, mostly because of the very low number of asymptomatic individuals analyzed, and because o …
Population Pharmacokinetic Model of N-acetylmannosamine (ManNAc) and N-acetylneuraminic acid (Neu5Ac) in Subjects with GNE Myopathy.
Van Wart S, Mager DE, Bednasz CJ, Huizing M, Carrillo N. Van Wart S, et al. Drugs R D. 2021 Jun;21(2):189-202. doi: 10.1007/s40268-021-00343-6. Epub 2021 Apr 24. Drugs R D. 2021. PMID: 33893973 Free PMC article.
Goodness-of-fit plots demonstrated an acceptable and unbiased fit to the plasma ManNAc and Neu5Ac concentration data. Visual predictive checks demonstrated reasonable agreement between the 5th, 50th, and 95th percentiles of the observed and simulated data. ...
Goodness-of-fit plots demonstrated an acceptable and unbiased fit to the plasma ManNAc and Neu5Ac concentration data. Visual predictive …
Unfolded protein response and activated degradative pathways regulation in GNE myopathy.
Li H, Chen Q, Liu F, Zhang X, Li W, Liu S, Zhao Y, Gong Y, Yan C. Li H, et al. PLoS One. 2013;8(3):e58116. doi: 10.1371/journal.pone.0058116. Epub 2013 Mar 5. PLoS One. 2013. PMID: 23472144 Free PMC article.
Although intracellular beta amyloid (Abeta) accumulation is known as an early upstream event in the degenerative course of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) myopathy, the process by which Abetadeposits initiate various degradative pathway …
Although intracellular beta amyloid (Abeta) accumulation is known as an early upstream event in the degenerative course of UDP-N-acet …
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
Cho A, Hayashi YK, Monma K, Oya Y, Noguchi S, Nonaka I, Nishino I. Cho A, et al. J Neurol Neurosurg Psychiatry. 2014 Aug;85(8):914-7. doi: 10.1136/jnnp-2013-305587. Epub 2013 Sep 11. J Neurol Neurosurg Psychiatry. 2014. PMID: 24027297
However, we should note that the statistical summary cannot predict clinical course of every patient....
However, we should note that the statistical summary cannot predict clinical course of every patient....
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.
Jiao K, Cheng N, Huan X, Zhang J, Ding Y, Luan X, Liu L, Wang X, Zhu B, Du K, Fan J, Gao M, Xia X, Wang N, Wang T, Xi J, Luo S, Lu J, Zhao C, Yue D, Zhu W. Jiao K, et al. Muscle Nerve. 2024 Jun;69(6):708-718. doi: 10.1002/mus.28092. Epub 2024 Apr 1. Muscle Nerve. 2024. PMID: 38558464
It results in the insertion of an extra 146 nucleotides into the messengerRNA (mRNA), which is predicted to result in a truncated humanGNE1(hGNE1) protein. Peanut agglutinin(PNA) lectin staining of muscle tissues showed reduced sialylation of mucin O-glycans on sarcolemmal …
It results in the insertion of an extra 146 nucleotides into the messengerRNA (mRNA), which is predicted to result in a truncated hum …
GNE myopathy: a prospective natural history study of disease progression.
Mori-Yoshimura M, Oya Y, Yajima H, Yonemoto N, Kobayashi Y, Hayashi YK, Noguchi S, Nishino I, Murata M. Mori-Yoshimura M, et al. Neuromuscul Disord. 2014 May;24(5):380-6. doi: 10.1016/j.nmd.2014.02.008. Epub 2014 Feb 28. Neuromuscul Disord. 2014. PMID: 24656604
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
Chamova T, Guergueltcheva V, Gospodinova M, Krause S, Cirak S, Kaprelyan A, Angelova L, Mihaylova V, Bichev S, Chandler D, Naydenov E, Grudkova M, Djukmedzhiev P, Voit T, Pogoryelova O, Lochmüller H, Goebel HH, Bahlo M, Kalaydjieva L, Tournev I. Chamova T, et al. Neuromuscul Disord. 2015 Sep;25(9):713-8. doi: 10.1016/j.nmd.2015.07.004. Epub 2015 Jul 13. Neuromuscul Disord. 2015. PMID: 26231298
13 results