Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes.
نویسنده
چکیده
Original Articles Rhythm-specific modulation of the sensorimotor network in drug-naı̈ve patients with Parkinson’s disease by levodopa F. Esposito, A. Tessitore, A. Giordano, R. De Micco, A. Paccone, R. Conforti, G. Pignataro, L. Annunziato and G. Tedeschi 710 Evidence for adaptive cortical changes in swallowing in Parkinson’s disease S. Suntrup, I. Teismann, J. Bejer, I. Suttrup, M. Winkels, D. Mehler, C. Pantev, R. Dziewas and T. Warnecke 726 BRAIN A J O URN AL O F N EURO LO GY
منابع مشابه
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
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...
متن کاملClinical 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...
متن کاملGlobal N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)
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...
متن کاملMutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
Mutations in GFPT1 underlie a congenital myasthenic syndrome (CMS) characterized by a limb-girdle pattern of muscle weakness. Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is a key rate-limiting enzyme in the hexosamine biosynthetic pathway providing building blocks for the glycosylation of proteins and lipids. It is expressed ubiquitously and it is not readily apparent why mutations in...
متن کاملCharacterisation of a novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations
Background Mutations in the GFPT1 and DPAGT1 genes, which encode enzymes associated with roles in protein N-linked glycosylation, have been recently identified in a rare subgroup of patients with congenital myasthenic syndromes (CMSs). These mutations are inherited in an autosomal recessive pattern, and the mechanism of impaired neuromuscular transmission may be acetylcholine receptor (AChR) de...
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ورودعنوان ژورنال:
- Brain : a journal of neurology
دوره 136 Pt 3 شماره
صفحات -
تاریخ انتشار 2013