Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes.
نویسنده
چکیده
1082 Brain atrophy and lesion load predict long term disability in multiple sclerosis V Popescu, F Agosta, H E Hulst, I C Sluimer, D L Knol, M P Sormani, C Enzinger, S Ropele, J Alonso, J Sastre-Garriga, A Rovira, X Montalban, B Bodini, O Ciccarelli, Z Khaleeli, D T Chard, L Matthews, J Palace, A Giorgio, N De Stefano, P Eisele, A Gass, C H Polman, B M J Uitdehaag, M J Messina, G Comi, M Filippi, F Barkhof, H Vrenken, on behalf of the MAGNIMS Study Group
منابع مشابه
Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1
Mutations in DPAGT1 are a newly recognised cause of congenital myasthenic syndrome. DPAGT1 encodes an early component of the N-linked glycosylation pathway. Initially mutations in DPAGT1 have been associated with the onset of the severe multisystem disorder - congenital disorder of glycosylation type 1J. However, recently it was established that certain mutations in this gene can cause symptoms...
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Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. We performed linkage analysis, whole-exome and whole-genome sequencing to determine the underlying defect in patients with an inherited limb-girdle pattern of myasthenic weakness. We ident...
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Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the first enzyme of the hexosamine biosynthetic pathway. It transfers an amino group from glutamine to fructose-6-phosphate to yield glucosamine-6-phosphate, thus providing the precursor for uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) synthesis. UDP-GlcNAc is an essential substrate for all mammalian glycosylation biosynthetic pat...
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The congenital muscular dystrophies present in infancy with muscle weakness and are often associated with mental retardation. Many of these inherited disorders share a common etiology: defective O-glycosylation of alpha-dystroglycan, a component of the dystrophin complex. Protein-O-mannosyl transferase 1 (POMT1) is the first enzyme required for the glycosylation of alpha-dystroglycan, and mutat...
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Various muscular dystrophies are associated with the defective glycosylation of alpha-dystroglycan and are known to result from mutations in genes encoding glycosyltransferases. Fukutin-related protein (FKRP) was identified as a homolog of fukutin, the defective protein in Fukuyama-type congenital muscular dystrophy (FCMD), that is thought to function as a glycosyltransferase. Mutations in FKRP...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 84 10 شماره
صفحات -
تاریخ انتشار 2013