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Neuromuscular Disorders
Volume 18, Issue 1
, Pages 45-51
, January 2008
Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies
References
- Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies. Nature. 2002;418:417–422
- . Dystrophin–glycoprotein complex: post-translational processing and dystroglycan and function. J Biol Chem. 2003;278:15457–15460
- . 133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21–23 January 2005, Naarden, The Netherlands. Neuromuscul Disord. 2005;15:794–801
- Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. 2001;1:717–724
- POMGnT1 mutation and phenotypic spectrum in muscle–eye–brain disease. J Med Genet. 2004;41:e115
- Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker–Warburg syndrome. Am J Hum Genet. 2002;71:1033–1043
- Mutations in POMT1 are found in a minority of patients with Walker–Warburg syndrome. Am J Med Genet A. 2005;133A:53–57
- . Glyc-O-genetics of Walker–Warburg syndrome. Clin Genet. 2005;67:281–289
- POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. Neurology. 2004;62:1009–1011
- POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker Warburg syndrome. J Med Genet. 2005;
- An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998;394:388–392
- Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan. Hum Mol Genet. 2003;12:2853–2861
- Intragenic deletion in the LARGE gene causes Walker–Warburg syndrome. Hum Genet. 2007;121:685–690
- Brain MRI abnormalities in muscular dystrophy due to FKRP mutations. Brain Dev. 2006;28:232–242
- New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Neurogenetics. 2004;5:27–34
- FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology. 2003;60:988–992
- Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol. 2006;63:251–257
- Mutations in the FKRP gene can cause muscle–eye–brain disease and Walker–Warburg syndrome. J Med Genet. 2004;41:e61
- POMGnT1 mutations in congenital muscular dystrophy: genotype–phenotype correlation and expanded clinical spectrum. Arch Neurol. 2006;63:1491–1495
- Expanding the clinical spectrum of POMT1 phenotype. Neurology. 2006;66:1564–1567discussion 1461
- 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. 2005;15:271–275
- The expanding phenotype of POMT1 mutations: from Walker–Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat. 2006;27:453–459
- Yanagisawa A, Bouchet C, Van den Bergh PYK et al. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. Neurology 2007, in press.
- Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle–eye–brain disease. Biochem Biophys Res Commun. 2003;306:93–97
- Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. Neuromuscul Disord. 2006;16:132–136
- . Mutations of the POMT1 gene found in patients with Walker–Warburg syndrome lead to a defect of protein O-mannosylation. Biochem Biophys Res Commun. 2004;325:75–79
- Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci USA. 2004;101:500–505
- Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease. Hum Mol Genet. 2003;12:527–534
- Enzymatic diagnostic test for muscle–eye–brain type congenital muscular dystrophy using commercially available reagents. Clin Biochem. 2003;36:339–344
- POMT2 mutation in a patient with ’MEB-like’ phenotype. Neuromuscul Disord. 2006;16:446–448
- Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Biochem Biophys Res Commun. 2006;350:935–941
- Agrin is involved in lymphocytes activation that is mediated by alpha-dystroglycan. FASEB J. 2006;20:50–58
PII: S0960-8966(07)00686-4
doi: 10.1016/j.nmd.2007.08.002
© 2007 Elsevier B.V. All rights reserved.
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Neuromuscular Disorders
Volume 18, Issue 1
, Pages 45-51
, January 2008
