Research Articles

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• 2011 Nemunaitis G, Jay CM, Maples PB, Gahl WA, Huizing M, Yardeni T, Tong AW, Phadke AP, Pappen BO, Bedell C, Allen H, Hernandez C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J. Hereditary Inclusion Body Myopathy: Single Patient Response to Intravenous Dosing of GNE Gene Lipoplex. Hum Gene Ther. 2011 Apr 25. [Epub ahead of print]. PMID: 21517694
• 2011 Sela I, Milman Krentsis I, Shlomai Z, Sadeh M, Dabby R, Argov Z, Ben-Bassat H, Mitrani-Rosenbaum S. The proteomic profile of hereditary inclusion body myopathy. PLoS One. 2011 Jan 31;6(1):e16334. PMID: 21305017
• 2011 Chai Y, Bertorini TE, McGrew FA. Hereditary inclusion-body myopathy associated with cardiomyopathy: report of two siblings. Muscle Nerve. 2011 Jan;43(1):133-6. PMID: 21082694
• 2011 Weihl CC, Miller SE, Zaidman CM, Pestronk A, Baloh RH, Al-Lozi M. Novel GNE mutations in two phenotypically distinct HIBM2 patients. Neuromuscul Disord. 2011 Feb;21(2):102-5. Epub 2010 Dec 4 PMID: 21131200
• 2010 Broccolini A, Gidaro T, Tasca G, Morosetti R, Rodolico C, Ricci E, Mirabella M. Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy. Neurology. 2010 Jul 20;75(3):265-72. PMID: 20644153
• 2010 Nakamura K, Tsukamoto Y, Hijiya N, Higuchi Y, Yano S, Yokoyama S, Kumamoto T, Moriyama M. Induction of GNE in myofibers after muscle injury. Pathobiology. 2010;77(4):191-9. Epub 2010 Jul 7. PMID: 20616614
• 2010 Nemunaitis G, Maples PB, Jay C, Gahl WA, Huizing M, Poling J, Tong AW, Phadke AP, Pappen BO, Bedell C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J.. Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy.J Gene Med. 2010 May;12(5):403-12.PMID: 2044075
• 2010 Paccalet T, Coulombe Z, Tremblay JP. Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease. PLoS One. 2010 Apr 7;5(4):e10055. PMID: 20383336

• 2009 - Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I. Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med. 2009 Jun;15(6):690-5
• 2008 - Broccolini A, Gidaro T, De Cristofaro R, Morosetti R, Gliubizzi C, Ricci E, Tonali PA, Mirabella M. Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle. J Neurochem. 2008 May;105(3):971-81. Epub 2007 Dec 24.
• 2008 - Adler RS, Garolfalo G, Paget S, Kagen L. Muscle sonography in six patients with hereditary inclusion body myopathy. Skeletal Radiol. 2008 Jan;37(1):43-8. Epub 2007 Oct 26. PMID: 17962939
  
• 2007 - Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I.A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet. 2007 Nov 15;16(22):2669-82. Epub 2007 Aug 18.
  PMID: 17704511
• 2007 - Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter MC, Argov Z, Mitrani-Rosenbaum S, Lochmuller H. GNE protein expression and subcellular distribution are unaltered in HIBM. Neurology. 2007 Aug 14;69(7):655-9. PMID: 17698786
  
• 2007 - Galeano B, Klootwijk R, Manoli I, Sun M, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest. 2007 Jun;117(6):1585-94. PMID: 17549255
  
• 2007 - Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Harris-Love M, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA. Free in PMC Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurol. 2007 Jan 29;7:3. PMID: 17261181
• 2007 - Gagiannis D, Orthmann A, Danssmann I, Schwarzkopf M, Weidemann W, Horstkorte R. Reduced sialylation status in UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)-deficient mice. Glycoconj J. 2007 Apr;24(2-3):125-130. Epub 2007 Jan 19. PMID: 17235685
• 2007 - Chu CC, Kuo HC, Yeh TH, Ro LS, Chen SR, Huang CC. Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family. Clin Neurol Neurosurg. 2007 Apr;109(3):250-6. Epub 2006 Nov 13. PMID: 17098358
• 2006 - Wang Z, Sun Z, Li AV, Yarema KJ. Free Full Text Roles for UDP-GlcNAc 2-epimerase/ManNAc 6-kinase outside of sialic acid biosynthesis: modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation. J Biol Chem. 2006 Sep 15;281(37):27016-28. Epub 2006 Jul 17. PMID: 16847058
• 2006 - Liewluck T, Pho-Iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Raksadawan N, Murayama K, Hayashi YK, Nishino I, Sangruchi T. Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand. Muscle Nerve. 2006 Dec;34(6):775-8.
• 2006 - Savelkoul PJ, Manoli I, Sparks SE, Ciccone C, Gahl WA, Krasnewich DM, Huizing M. No Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy. Mol Genet Metab. 2006 Aug;88(4):389-90. Epub 2006 Jun 9. PMID: 16762577
• 2006 - Ricci E, Broccolini A, Gidaro T, Morosetti R, Gliubizzi C, Frusciante R, Di Lella GM, Tonali PA, Mirabella M. NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations. Neurology. 2006 Mar 14;66(5):755-8.
  PMID: 16534119
• 2006 - Penner J, Mantey LR, Elgavish S, Ghaderi D, Cirak S, Berger M, Krause S, Lucka L, Voit T, Mitrani-Rosenbaum S, Hinderlich S. Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
  Biochemistry. 2006 Mar 7;45(9):2968-77. PMID: 16503651
• 2006 - Kim BJ, Ki CS, Kim JW, Sung DH, Choi YC, Kim SH. Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. J Hum Genet. 2006;51(2):137-40. Epub 2005 Dec 22. Erratum in: J Hum Genet. 2006;51(9):840. PMID: 16372135

• 2005 - Sparks SE, Ciccone C, Lalor M, Orvisky E, Klootwijk R, Savelkoul PJ, Dalakas MC, Krasnewich DM, Gahl WA, Huizing M. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. Glycobiology. 2005 Nov;15(11):1102-10. Epub 2005 Jun 29. PMID: 15987957
• 2005 - Tajima Y, Uyama E, Go S, Sato C, Tao N, Kotani M, Hino H, Suzuki A, Sanai Y, Kitajima K, Sakuraba H. Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins. Am J Pathol. 2005 Apr;166(4):1121-30. PMID: 15793292
• 2005 - Krause S, Hinderlich S, Amsili S, Horstkorte R, Wiendl H, Argov Z, Mitrani-Rosenbaum S, Lochmuller H. Abstract Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells.
  Exp Cell Res. 2005 Apr 1;304(2):365-79. Epub 2004 Dec 19. PMID: 15748884
• 2005 - Broccolini A, Gliubizzi C, Pavoni E, Gidaro T, Morosetti R, Sciandra F, Giardina B, Tonali P, Ricci E, Brancaccio A, Mirabella M. Abstract alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy.
  Neuromuscul Disord. 2005 Feb;15(2):177-84. Epub 2004 Dec 10. PMID: 15694140
• 2005 - Salama I, Hinderlich S, Shlomai Z, Eisenberg I, Krause S, Yarema K, Argov Z, Lochmuller H, Reutter W, Dabby R, Sadeh M, Ben-Bassat H, Mitrani-Rosenbaum S. Abstract No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. Biochem Biophys Res Commun. 2005 Mar 4;328(1):221-6. PMID: 15670773
• 2004 - Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas MC. Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab. 2004 Mar;81(3):196-202. PMID: 14972325
• 2004 - Hinderlich S, Salama I, Eisenberg I, Potikha T, Mantey LR, Yarema KJ, Horstkorte R, Argov Z, Sadeh M, Reutter W, Mitrani-Rosenbaum S. Abstract The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy. FEBS Lett. 2004 May 21;566(1-3):105-9. PMID: 15147877
• 2004 - Saito F, Tomimitsu H, Arai K, Nakai S, Kanda T, Shimizu T, Mizusawa H, Matsumura K. A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins. Neuromuscul Disord. 2004 Feb;14(2):158-61. PMID: 14733963
• 2004 - Noguchi S, Keira Y, Murayama K, Ogawa M, Fujita M, Kawahara G, Oya Y, Imazawa M, Goto Y, Hayashi YK, Nonaka I, Nishino I. Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem. 2004 Mar 19;279(12):11402-7. Epub 2004 Jan 05. PMID: 14707127
• 2004 - Tomimitsu H, Shimizu J, Ishikawa K, Ohkoshi N, Kanazawa I, Mizusawa H. Abstract Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. Neurology. 2004 May 11;62(9):1607-10. PMID: 15136692
• 2002 - Vasconcelos OM, Raju R, Dalakas MC. GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. Neurology. 2002 Dec 10;59(11):1776-9.
• 2002 - Darvish D, Vahedifar P, Huo Y. Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). Mol Genet Metab. 2002 Nov;77(3):252-6.
• 2002 - 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. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology. 2002 Dec 10;59(11):1689-93.
• 2002 - Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase / N-acetylmannosamine kinase gene (GNE). J Hum Genet. 2002;47(2):77-9.
• 2001 - 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. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-7.
• 2001 - Tsuruta Y, Furuta A, Furuta K, Yamada T, Kira J, Iwaki T. Expression of the lysosome-associated membrane proteins in myopathies with rimmed vacuoles. Acta Neuropathol (Berl). 2001 Jun;101(6):579-84.
• 2001 - Yan C, Ikezoe K, Nonaka I. Apoptotic muscle fiber degeneration in distal myopathy with rimmed vacuoles. Acta Neuropathol (Berl). 2001 Jan;101(1):9-16.
• 2000 - Kumamoto T, Ito T, Horinouchi H, Ueyama H, Toyoshima I, Tsuda T. Increased lysosome-related proteins in the skeletal muscles of distal myopathy with rimmed vacuoles. Muscle Nerve. 2000 Nov;23(11):1686-93.
• 2000 - Mirabella M, Christodoulou K, Di Giovanni S, Ricci E, Tonali P, Servidei S. An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1. Neurol Sci. 2000 Apr;21(2):99-102.

• 1998 - Kumamoto T, Fujimoto S, Nagao S, Masuda T, Sugihara R, Ueyama H, Tsuda T. Proteasomes in distal myopathy with rimmed vacuoles. Intern Med. 1998 Sep;37(9):746-52.
• 1998 - Askanas V, Engel WK. Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: diseases of oxidative stress and aging? Arch Neurol. 1998 Jul;55(7):915-20.
• 1998 - Koffman BM, Sivakumar K, Simonis T, Stroncek D, Dalakas MC. HLA allele distribution distinguishes sporadic inclusion body myositis from hereditary inclusion body myopathies. J Neuroimmunol. 1998 Apr 15;84(2):139-42.
• 1997 - Ikeuchi T, Asaka T, Saito M, Tanaka H, Higuchi S, Tanaka K, Saida K, Uyama E, Mizusawa H, Fukuhara N, Nonaka I, Takamori M, Tsuji S. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol. 1997 Apr;41(4):432-7.
• 1996 - Sivakumar K, Dalakas MC. The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews. Neurology. 1996 Oct;47(4):977-84.
• 1996 - Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman CE, Seidman JG. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum Mol Genet. 1996 Jan;5(1):159-163.
• 1995 - Murakami N, Ihara Y, Nonaka I. Muscle fiber degeneration in distal myopathy with rimmed vacuole formation. Acta Neuropathol (Berl). 1995;89(1):29-34.

• 1993 - Sadeh M, Gadoth N, Hadar H, Ben-David E. Vacuolar myopathy sparing the quadriceps. Brain. 1993 Feb;116 ( Pt 1):217-32.
• 1991 - Massa R, Weller B, Karpati G, Shoubridge E, Carpenter S. Familial inclusion body myositis among Kurdish-Iranian Jews. Arch Neurol. 1991 May;48(5):519-22.

• 1984 - Argov Z, Yarom R. “Rimmed vacuole myopathy” sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci. 1984 Apr;64(1):33-43. PMID: 6737002
• 1981 - Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Abstract Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci. 1981 Jul;51(1):141-55. PMID: 7252518