Citations for
1GNE, 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
2GNE, 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
3DMRV, 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
4GNE
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
5GNE, 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
6DMRV, 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
7GNE
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
8GNE
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
9GNE, 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
10GNE
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
11GNE, 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
12GNE
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
13GNE, 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
14GNE, 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
15IBM21, 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
16GNE, 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
17CRMP1, 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
18GNE, 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
19GNE, 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
20DMRV, 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
21GNE
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
22GNE, 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
23DMRV, 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
24DMRV, 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
25DMRV, 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
26DMRV, 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
27DMRV, 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
28CCIN, 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
29GNE, 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
30DMRV, 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
31GNE, 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