| 1 | GNE, IBM2
|
| Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.
|
| Cai H, Yabe I, Sato K, Kano T, Nakamura M, Hozen H, Sasaki H.
|
| J Neurol 259(9):1913-22. doi: 10.1007/s00415-012-6439-0. Epub 2012 Feb 17.
2012
|
| 2 | GNE, IBM2
|
| Muscle imaging findings in GNE myopathy.
|
| Tasca G, Ricci E, Monforte M, Laschena F, Ottaviani P, Rodolico C, Barca E, Silvestri G, Iannaccone E, Mirabella M, Broccolini A.
|
| J Neurol 259(7):1358-65. doi: 10.1007/s00415-011-6357-6. Epub 2012 Jan 10.
2012
|
| 3 | DMRV, GNE
|
| Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.
|
| Park YE, Kim HS, Choi ES, Shin JH, Kim SY, Son EH, Lee CH, Kim DS.
|
| J Neurol Sci 321(1-2):77-81. doi: 10.1016/j.jns.2012.07.061. Epub 2012 Aug 9.
2012
|
| 4 | GNE
|
| Loss of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) induces apoptotic processes in pancreatic carcinoma cells.
|
| Kemmner W, Kessel P, Sanchez-Ruderisch H, Möller H, Hinderlich S, Schlag PM, Detjen K.
|
| FASEB J 26(2):938-46. doi: 10.1096/fj.11-186700. Epub 2011 Nov 2.
2012
|
| 5 | GNE, IBM2
|
| Novel GNE mutations in two phenotypically distinct HIBM2 patients.
|
| Weihl CC, Miller SE, Zaidman CM, Pestronk A, Baloh RH, Al-Lozi M.
|
| Neuromuscul Disord 21(2):102-5. Epub 2010 Dec 4.
2011
|
| 6 | DMRV, GNE
|
| Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.
|
| Lu X, Pu C, Huang X, Liu J, Mao Y.
|
| Neurol Res 33(10):1025-31. doi: 10.1179/1743132811Y.0000000070.
2011
|
| 7 | GNE
|
| GNE is involved in the early development of skeletal and cardiac muscle.
|
| Milman Krentsis I, Sela I, Eiges R, Blanchard V, Berger M, Becker Cohen M, Mitrani-Rosenbaum S.
|
| PLoS One 6(6):e21389. doi: 10.1371/journal.pone.0021389. Epub 2011 Jun 24.
2011
|
| 8 | GNE
|
| Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase.
|
| Yardeni T, Choekyi T, Jacobs K, Ciccone C, Patzel K, Anikster Y, Gahl WA, Kurochkina N, Huizing M.
|
| Biochemistry 50(41):8914-25. doi: 10.1021/bi201050u. Epub 2011 Sep 19.
2011
|
| 9 | GNE, IBM2
|
| Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy.
|
| Weidemann W, Reinhardt A, Thate A, Horstkorte R.
|
| Neuromuscul Disord 21(12):824-31. doi: 10.1016/j.nmd.2011.06.004. Epub 2011 Aug 27.
2011
|
| 10 | GNE
|
| Induction of GNE in myofibers after muscle injury.
|
| Nakamura K, Tsukamoto Y, Hijiya N, Higuchi Y, Yano S, Yokoyama S, Kumamoto T, Moriyama M.
|
| Pathobiology 77(4):191-9. doi: 10.1159/000292652. Epub 2010 Jul 7.
2010
|
| 11 | GNE, IBM2
|
| Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.
|
| Voermans NC, Guillard M, Doedée R, Lammens M, Huizing M, Padberg GW, Wevers RA, van Engelen BG, Lefeber DJ.
|
| Clin Neuropathol 29(2):71-7.
2010
|
| 12 | GNE
|
| Crystal structure of the N-acetylmannosamine kinase domain of GNE.
|
| Tong Y, Tempel W, Nedyalkova L, Mackenzie F, Park HW.
|
| PLoS One 4(10):e7165. doi: 10.1371/journal.pone.0007165.
2009
|
| 13 | GNE, MDRV
|
| Mitochondrial processes are impaired in hereditary inclusion body myopathy.
|
| Eisenberg I, Novershtern N, Itzhaki Z, Becker-Cohen M, Sadeh M, Willems PH, Friedman N, Koopman WJ, Mitrani-Rosenbaum S.
|
| Hum Mol Genet 17(23):3663-74. Epub 2008 Aug 23.
2008
|
| 14 | GNE, IBM2
|
| Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events.
|
| Amsili S, Shlomai Z, Levitzki R, Krause S, Lochmuller H, Ben-Bassat H, Mitrani-Rosenbaum S.
|
| Cell Death Differ 14(11):1916-24. Epub 2007 Aug 3. 2007
|
| 15 | IBM21, DMRV, GNE
|
| A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
|
| Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I.
|
| Hum Mol Genet 16(22):2669-82. Epub 2007 Aug 18. 2007
|
| 16 | GNE, IBM2
|
| Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
|
| Penner J, Mantey LR, Elgavish S, Ghaderi D, Cirak S, Berger M, Krause S, Lucka L, Voit T, Mitrani-Rosenbaum S, Hinderlich S.
|
| Biochemistry 45(9):2968-77. 2006
|
| 17 | CRMP1, GNE, ZBTB16
|
| The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis.
|
| Weidemann W, Stelzl U, Lisewski U, Bork K, Wanker EE, Hinderlich S, Horstkorte R.
|
| FEBS Lett 580(28-29):6649-54. Epub 2006 Nov 14.
2006
|
| 18 | GNE, IBM2
|
| Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy.
|
| Amouri R, Driss A, Murayama K, Kefi M, Nishino I, Hentati F.
|
| Neuromuscul Disord 15(5):361-3. 2005
|
| 19 | GNE, IBM2
|
| Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
|
| Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas MC.
|
| Mol Genet Metab 81(3):196-202. 2004
|
| 20 | DMRV, GNE
|
| Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.
|
| Tomimitsu H, Shimizu J, Ishikawa K, Ohkoshi N, Kanazawa I, Mizusawa H.
|
| Neurology 62(9):1607-10. 2004
|
| 21 | GNE
|
| Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
| Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S.
|
| Hum Mutat 21(1):99. 2003
|
| 22 | GNE, IBM2
|
| Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
|
| Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Fonzo AD, Castagni M, Bresolin N, Comi GP.
|
| Muscle Nerve 28(1):113-7. 2003
|
| 23 | DMRV, GNE
|
| GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
|
| Yabe I, Higashi T, Kikuchi S, Sasaki H, Fukazawa T, Yoshida K, Tashiro K.
|
| Neurology 61(3):384-6. 2003
|
| 24 | DMRV, GNE
|
| A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
|
| Arai A, Tanaka K, Ikeuchi T, Igarashi S, Kobayashi H, Asaka T, Date H, Saito M, Tanaka H, Kawasaki S, Uyama E, Mizusawa H, Fukuhara N, Tsuji S.
|
| Ann Neurol 52(4):516-9. 2002
|
| 25 | DMRV, GNE
|
| Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
|
| Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, Aoki M, Nonaka I.
|
| Neurology 59(11):1689-93. 2002
|
| 26 | DMRV, GNE, IBM2
|
| Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
|
| Tomimitsu H, Ishikawa K, Shimizu J, Ohkoshi N, Kanazawa I, Mizusawa H.
|
| Neurology 59(3):451-4. 2002
|
| 27 | DMRV, GNE
|
| Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
|
| Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T.
|
| J Hum Genet 47(2):77-9. 2002
|
| 28 | CCIN, CLTA, CREB3, GNE, IBM2, MELK, PAX5, RECK
|
| Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13.
|
| Eisenberg I, Hochner H, Shemesh M, Levi T, Potikha T, Sadeh M, Argov Z, Jackson CL, Mitrani-Rosenbaum S.
|
| Eur J Hum Genet 9(7):501-9. 2001
|
| 29 | GNE, IBM2
|
| Clinical Delineation and Localization to Chromosome 9p13.3-p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia.
|
| Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE.
|
| Mol Genet Metab 74(4):458-75. 2001
|
| 30 | DMRV, GNE
|
| Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)
|
| Asaka T, Ikeuchi K, Okino S, Takizawa Y, Satake R, Nitta E, Komai K, Endo K, Higuchi S, Oyake T, Yoshimura T, Suenaga A, Uyama E, Saito T, Konagaya M, Sunohara N, Namba R, Takada H, Honke K, Nishina M, Tanaka H, Shinagawa M, Tanaka K, Matsushima A, Tsuji S, Takamori M.
|
| J Hum Genet 46(11):649-55. 2001
|
| 31 | GNE, IBM2
|
| The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
|
| Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S.
|
| Nat Genet 29(1):83-7. 2001
|