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Volumn 89, Issue 7, 2017, Pages 657-664

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG

Author keywords

[No Author keywords available]

Indexed keywords

N ACETYLGLUCOSAMINYLTRANSFERASE;

EID: 85027506334     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000004234     Document Type: Article
Times cited : (19)

References (19)
  • 1
    • 0029585865 scopus 로고
    • Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
    • Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 1995;377:318-320.
    • (1995) FEBS Lett , vol.377 , pp. 318-320
    • Van Schaftingen, E.1    Jaeken, J.2
  • 3
    • 27744580153 scopus 로고    scopus 로고
    • Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation
    • Gao X-D, Tachikawa H, Sato T, Jigami Y, Dean N. Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation. J Biol Chem 2005;280:36254-36262.
    • (2005) J Biol Chem , vol.280 , pp. 36254-36262
    • Gao, X.-D.1    Tachikawa, H.2    Sato, T.3    Jigami, Y.4    Dean, N.5
  • 4
    • 84858701456 scopus 로고    scopus 로고
    • Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease
    • Würde AE, Reunert J, Rust S, et al. Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. Mol Genet Metab 2012;105:634-641.
    • (2012) Mol Genet Metab , vol.105 , pp. 634-641
    • Würde, A.E.1    Reunert, J.2    Rust, S.3
  • 5
    • 84863985182 scopus 로고    scopus 로고
    • Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates
    • Belaya K, Finlayson S, Slater CR, et al. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet 2012;91:193-201.
    • (2012) Am J Hum Genet , vol.91 , pp. 193-201
    • Belaya, K.1    Finlayson, S.2    Slater, C.R.3
  • 6
    • 1542329546 scopus 로고    scopus 로고
    • Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik
    • Grubenmann CE, Frank CG, Hülsmeier AJ, et al. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet 2004;13:535-542.
    • (2004) Hum Mol Genet , vol.13 , pp. 535-542
    • Grubenmann, C.E.1    Frank, C.G.2    Hülsmeier, A.J.3
  • 7
    • 78149327905 scopus 로고    scopus 로고
    • Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): Five new patients and seven novel mutations
    • Dupré T, Vuillaumier-Barrot S, Chantret I, et al. Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. J Med Genet 2010;47:729-735.
    • (2010) J Med Genet , vol.47 , pp. 729-735
    • Dupré, T.1    Vuillaumier-Barrot, S.2    Chantret, I.3
  • 8
    • 0037590885 scopus 로고    scopus 로고
    • A new type of congenital disorders of glycosylation (CDG-II) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis
    • Thiel C, Schwarz M, Peng J, et al. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. J Biol Chem 2003;278:22498-22505.
    • (2003) J Biol Chem , vol.278 , pp. 22498-22505
    • Thiel, C.1    Schwarz, M.2    Peng, J.3
  • 9
    • 84874818330 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
    • Cossins J, Belaya K, Hicks D, et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain J Neurol 2013;136:944-956.
    • (2013) Brain J Neurol , vol.136 , pp. 944-956
    • Cossins, J.1    Belaya, K.2    Hicks, D.3
  • 10
    • 84895803209 scopus 로고    scopus 로고
    • Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
    • Monies DM, Al-Hindi HN, Al-Muhaizea MA, et al. Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome. Neuromuscul Disord2014;24:353-359.
    • (2014) Neuromuscul Disord , vol.24 , pp. 353-359
    • Monies, D.M.1    Al-Hindi, H.N.2    Al-Muhaizea, M.A.3
  • 12
    • 84887617035 scopus 로고    scopus 로고
    • A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
    • Neveling K, Feenstra I, Gilissen C, et al. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013;34:1721-1726.
    • (2013) Hum Mutat , vol.34 , pp. 1721-1726
    • Neveling, K.1    Feenstra, I.2    Gilissen, C.3
  • 13
    • 84941023581 scopus 로고    scopus 로고
    • Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and Hearing loss
    • Tanaka AJ, ChoMT, Millan F, et al. Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and Hearing loss. Am J Hum Genet 2015;97:457-464.
    • (2015) Am J Hum Genet , vol.97 , pp. 457-464
    • Tanaka, A.J.1    Cho, M.T.2    Millan, F.3
  • 14
    • 23144440940 scopus 로고    scopus 로고
    • PRALINE: A multiple sequence alignment toolbox that integrates homology-extended and secondary structure information
    • Simossis VA, Heringa J. PRALINE: a multiple sequence alignment toolbox that integrates homology-extended and secondary structure information. Nucleic Acids Res 2005; 33:W289-W294.
    • (2005) Nucleic Acids Res , vol.33 , pp. W289-W294
    • Simossis, V.A.1    Heringa, J.2
  • 15
    • 84877259205 scopus 로고    scopus 로고
    • Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy
    • Kevelam SH, Bugiani M, Salomons GS, et al. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain J Neurol 2013;136:1534-1543.
    • (2013) Brain J Neurol , vol.136 , pp. 1534-1543
    • Kevelam, S.H.1    Bugiani, M.2    Salomons, G.S.3
  • 16
    • 84952308445 scopus 로고    scopus 로고
    • High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation
    • e1
    • van Scherpenzeel M, Steenbergen G, Morava E, Wevers RA, Lefeber DJ. High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. Transl Res J Lab Clin Med 2015;166:639-649.e1.
    • (2015) Transl Res J Lab Clin Med , vol.166 , pp. 639-649
    • Van Scherpenzeel, M.1    Steenbergen, G.2    Morava, E.3    Wevers, R.A.4    Lefeber, D.J.5
  • 17
    • 84867180277 scopus 로고    scopus 로고
    • Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations
    • Morava E, Vodopiutz J, Lefeber DJ, et al. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics 2012;130:e1034-1039.
    • (2012) Pediatrics , vol.130 , pp. e1034-1039
    • Morava, E.1    Vodopiutz, J.2    Lefeber, D.J.3
  • 18
    • 84938230348 scopus 로고    scopus 로고
    • Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
    • Dimassi S, Labalme A, Ville D, et al. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clin Genet 2016;89:198-204.
    • (2016) Clin Genet , vol.89 , pp. 198-204
    • Dimassi, S.1    Labalme, A.2    Ville, D.3
  • 19
    • 84880285119 scopus 로고    scopus 로고
    • Mutations in GDPmannose pyrophosphorylase B cause congenital and limbgirdle muscular dystrophies associated with hypoglycosylation of a-dystroglycan
    • Carss KJ, Stevens E, Foley AR, et al. Mutations in GDPmannose pyrophosphorylase B cause congenital and limbgirdle muscular dystrophies associated with hypoglycosylation of a-dystroglycan. Am J Hum Genet 2013;93:29-41.
    • (2013) Am J Hum Genet , vol.93 , pp. 29-41
    • Carss, K.J.1    Stevens, E.2    Foley, A.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.