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Volumn 49, Issue 11, 2009, Pages 852-855

Development of therapy for distal myopathy with rimmed vacuoles

Author keywords

Distal myopathy; GNE; Hereditary inclusion body myopathy: hIBM; Rimmed vacuole; Sialic acid

Indexed keywords

AMYLOID; GNE PROTEIN; MANN AC; NEU AC; SIALIC ACID DERIVATIVE; SIALYLLACTOSE; TAU PROTEIN; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE; MULTIENZYME COMPLEX; N ACETYLNEURAMINIC ACID; UDP N ACETYLGLUCOSAMINE 2 EPIMERASE N ACETYLMANNOSAMINE KINASE; UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE - N-ACETYLMANNOSAMINE KINASE;

EID: 77956208595     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: 10.5692/clinicalneurol.49.852     Document Type: Conference Paper
Times cited : (2)

References (10)
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    • Malicdan, M.C.1    Noguchi, S.2    Nishino, I.3
  • 3
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    • Autophagic vacuolar myopathies
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    • Nishino, I.1
  • 6
    • 12144287262 scopus 로고    scopus 로고
    • Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles
    • Noguchi S, Keira Y, Murayama K, et al: Reduction of UDP-N- acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem 2004; 279: 11402-11407
    • (2004) J Biol Chem , vol.279 , pp. 11402-11407
    • Noguchi, S.1    Keira, Y.2    Murayama, K.3
  • 7
    • 34249874096 scopus 로고    scopus 로고
    • Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine
    • Galeano B, Klootwijk R, Manoli I, et al: Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest 2007; 117: 1585-1194
    • (2007) J Clin Invest , vol.117 , pp. 1585-11194
    • Galeano, B.1    Klootwijk, R.2    Manoli, I.3
  • 8
    • 35549010650 scopus 로고    scopus 로고
    • A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
    • DOI 10.1093/hmg/ddm220
    • Malicdan MC, Noguchi S, Nonaka I, et al: A Gne knockout mouse expressing human GNED176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet 2007; 16: 2669-2682 (Pubitemid 350018509)
    • (2007) Human Molecular Genetics , vol.16 , Issue.22 , pp. 2669-2682
    • Malicdan, M.C.V.1    Noguchi, S.2    Nonaka, I.3    Hayashi, Y.K.4    Nishino, I.5
  • 9
    • 56149107232 scopus 로고    scopus 로고
    • Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM
    • Malicdan MC, Noguchi S, Hayashi YK, et al: Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM. Physiol Genomics 2008; 35: 106-115
    • (2008) Physiol Genomics , vol.35 , pp. 106-115
    • Malicdan, M.C.1    Noguchi, S.2    Hayashi, Y.K.3
  • 10
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    • Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model
    • Malicdan MC, Noguchi S, Hayashi YK, et al: Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med 2009; 15: 690-695
    • (2009) Nat Med , vol.15 , pp. 690-695
    • Malicdan, M.C.1    Noguchi, S.2    Hayashi, Y.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.