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Volumn 363, Issue 4, 2007, Pages 1033-1037

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

Author keywords

Congenital muscular dystrophy; Dystroglycan; Glycosylation; POMT2

Indexed keywords

ALPHA DYSTROGLYCAN; MANNOSYLTRANSFERASE; PROTEIN O MANNOSYL TRANSFERASE 1; PROTEIN O MANNOSYL TRANSFERASE 2; UNCLASSIFIED DRUG;

EID: 35148838187     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2007.09.066     Document Type: Article
Times cited : (80)

References (22)
  • 1
    • 4444234437 scopus 로고    scopus 로고
    • The congenital muscular dystrophies in 2004: a century of exciting progress
    • Muntoni F., and Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul. Disord. 14 (2004) 635-649
    • (2004) Neuromuscul. Disord. , vol.14 , pp. 635-649
    • Muntoni, F.1    Voit, T.2
  • 3
    • 0038182574 scopus 로고    scopus 로고
    • Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function
    • Michele D.E., and Campbell K.P. Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function. J. Biol. Chem. 278 (2003) 15457-15460
    • (2003) J. Biol. Chem. , vol.278 , pp. 15457-15460
    • Michele, D.E.1    Campbell, K.P.2
  • 4
    • 0036869334 scopus 로고    scopus 로고
    • Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids
    • Willer T., Amselgruber W., Deutzmann R., and Strahl S. Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids. Glycobiology 12 (2002) 771-783
    • (2002) Glycobiology , vol.12 , pp. 771-783
    • Willer, T.1    Amselgruber, W.2    Deutzmann, R.3    Strahl, S.4
  • 5
    • 26944438148 scopus 로고    scopus 로고
    • POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome
    • van Reeuwijk J., Janssen M., van den Elzen C., et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J. Med. Genet. 42 (2005) 907-912
    • (2005) J. Med. Genet. , vol.42 , pp. 907-912
    • van Reeuwijk, J.1    Janssen, M.2    van den Elzen, C.3
  • 6
    • 33746206200 scopus 로고    scopus 로고
    • POMT2 mutation in a patient with 'MEB-like' phenotype
    • Mercuri E., D'Amico A., Tessa A., et al. POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromuscul. Disord. 16 (2006) 446-448
    • (2006) Neuromuscul. Disord. , vol.16 , pp. 446-448
    • Mercuri, E.1    D'Amico, A.2    Tessa, A.3
  • 7
    • 34548745870 scopus 로고    scopus 로고
    • New POMT2 mutations causing congenital muscular dystrophy
    • Jul. 18 [Epub ahead of print]
    • Yanagisawa A., Bouchet C., Van der Bergh P.Y., et al. New POMT2 mutations causing congenital muscular dystrophy. Neurology (2007) Jul. 18 [Epub ahead of print]
    • (2007) Neurology
    • Yanagisawa, A.1    Bouchet, C.2    Van der Bergh, P.Y.3
  • 8
    • 34948884529 scopus 로고    scopus 로고
    • Molecular heterogeneity in fetal forms of type II lissencephaly
    • Jun. 8; [Epub ahead of print]
    • Bouchet C., Gonzales M., Vuillaumier-Barrot S., et al. Molecular heterogeneity in fetal forms of type II lissencephaly. Hum. Mutat. (2007) Jun. 8; [Epub ahead of print]
    • (2007) Hum. Mutat.
    • Bouchet, C.1    Gonzales, M.2    Vuillaumier-Barrot, S.3
  • 9
    • 0035212037 scopus 로고    scopus 로고
    • Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
    • Brockington M., Blake D.J., Prandini P., et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am. J. Hum. Genet. 69 (2001) 1198-1209
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1198-1209
    • Brockington, M.1    Blake, D.J.2    Prandini, P.3
  • 10
    • 18244375299 scopus 로고    scopus 로고
    • Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
    • Brockington M., Yuva Y., Prandini P., et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum. Mol. Genet. 10 (2001) 2851-2859
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2851-2859
    • Brockington, M.1    Yuva, Y.2    Prandini, P.3
  • 11
    • 0037465832 scopus 로고    scopus 로고
    • FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts
    • Topaloglu H., Brockington M., Yuva Y., et al. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology 60 (2003) 988-992
    • (2003) Neurology , vol.60 , pp. 988-992
    • Topaloglu, H.1    Brockington, M.2    Yuva, Y.3
  • 12
    • 32944460140 scopus 로고    scopus 로고
    • Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations
    • Mercuri E., Topaloglu H., Brockington M., et al. Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch. Neurol. 63 (2006) 251-257
    • (2006) Arch. Neurol. , vol.63 , pp. 251-257
    • Mercuri, E.1    Topaloglu, H.2    Brockington, M.3
  • 13
    • 0038185363 scopus 로고    scopus 로고
    • Mutations in the O-mannosyl-transferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
    • Beltran-Valero de Bernabe D., Currier S., Steinbrecher A., et al. Mutations in the O-mannosyl-transferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet. 71 (2002) 1033-1043
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1033-1043
    • Beltran-Valero de Bernabe, D.1    Currier, S.2    Steinbrecher, A.3
  • 14
    • 20144388364 scopus 로고    scopus 로고
    • An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene
    • Balci B., Uyanik G., Dincer P., et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul. Disord. 15 (2005) 271-275
    • (2005) Neuromuscul. Disord. , vol.15 , pp. 271-275
    • Balci, B.1    Uyanik, G.2    Dincer, P.3
  • 15
    • 33745379190 scopus 로고    scopus 로고
    • Expanding the clinical spectrum of POMT1 phenotype
    • D'Amico A., Tessa A., Bruno C., et al. Expanding the clinical spectrum of POMT1 phenotype. Neurology 66 (2006) 1564-1567
    • (2006) Neurology , vol.66 , pp. 1564-1567
    • D'Amico, A.1    Tessa, A.2    Bruno, C.3
  • 16
    • 34250352221 scopus 로고    scopus 로고
    • Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
    • van Reeuwijk J., Grewal P.K., Salih M.A., et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum. Genet. 121 (2007) 685-690
    • (2007) Hum. Genet. , vol.121 , pp. 685-690
    • van Reeuwijk, J.1    Grewal, P.K.2    Salih, M.A.3
  • 17
    • 33749596532 scopus 로고    scopus 로고
    • POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum
    • Biancheri R., Bertini E., Falace A., et al. POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. Arch. Neurol. 63 (2006) 1491-1495
    • (2006) Arch. Neurol. , vol.63 , pp. 1491-1495
    • Biancheri, R.1    Bertini, E.2    Falace, A.3
  • 18
    • 33750468309 scopus 로고    scopus 로고
    • Protein glycosylation, conserved from yeast to man: a model organism helps elucidate congenital human diseases
    • Lehle L., Strahl S., and Tanner W. Protein glycosylation, conserved from yeast to man: a model organism helps elucidate congenital human diseases. Angew Chem. Int. Ed. Engl. 45 1 (2006) 6802-6818
    • (2006) Angew Chem. Int. Ed. Engl. , vol.45 , Issue.1 , pp. 6802-6818
    • Lehle, L.1    Strahl, S.2    Tanner, W.3
  • 19
    • 33744792021 scopus 로고    scopus 로고
    • CAPN3 mutations in patients with idiopathic eosinophilic myositis
    • Krahn M., Lopez de Munain A., Streichenberger N., et al. CAPN3 mutations in patients with idiopathic eosinophilic myositis. Ann. Neurol. 59 (2006) 905-911
    • (2006) Ann. Neurol. , vol.59 , pp. 905-911
    • Krahn, M.1    Lopez de Munain, A.2    Streichenberger, N.3
  • 20
    • 33744831966 scopus 로고    scopus 로고
    • Calpainopathy and eosinophilic myositis
    • Brown R.H., and Amato A. Calpainopathy and eosinophilic myositis. Ann. Neurol. 59 (2006) 875-877
    • (2006) Ann. Neurol. , vol.59 , pp. 875-877
    • Brown, R.H.1    Amato, A.2
  • 21
    • 10544230641 scopus 로고    scopus 로고
    • Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy
    • Pegoraro E., Mancias P., Swerdlow S.H., et al. Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy. Ann. Neurol. 40 5 (1996) 782-791
    • (1996) Ann. Neurol. , vol.40 , Issue.5 , pp. 782-791
    • Pegoraro, E.1    Mancias, P.2    Swerdlow, S.H.3
  • 22
    • 33845292617 scopus 로고    scopus 로고
    • Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
    • Godfrey C., Escolar D., Brockington M., et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann. Neurol. 60 (2006) 603-610
    • (2006) Ann. Neurol. , vol.60 , pp. 603-610
    • Godfrey, C.1    Escolar, D.2    Brockington, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.