Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect
نویسندگان
چکیده
منابع مشابه
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Neuromuscular junctions (NMJs) are synapses that transmit impulses from motor neurons to skeletal muscle fibers leading to muscle contraction. Study of hereditary disorders of neuromuscular transmission, termed congenital myasthenic syndromes (CMS), has helped elucidate fundamental processes influencing development and function of the nerve-muscle synapse. Using genetic linkage, we find 18 diff...
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The hexosamine biosynthetic pathway (HBP) culminates in the attachment of O-linked β-N-acetylglucosamine (O-GlcNAc) onto serine/threonine residues of target proteins. The HBP is regulated by several modulators, i.e. O-linked β-N-acetylglucosaminyl transferase (OGT) and β-N-acetylglucosaminidase (OGA) catalyze the addition and removal of O-GlcNAc moieties, respectively; while flux is controlled ...
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Noninvasive imaging assessment of tumor cell proliferation could be helpful in the evaluation of tumor growth potential, the degree of malignancy, and could provide an early assessment of treatment response prior to changes in tumor size determined by computed tomography (CT), magnetic resonance imaging (MRI), Positron emission tomography (PET), Single-Photon emission computed tomography (SPECT...
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The hexosamine biosynthetic pathway (HBP) is a nutrient-sensing metabolic pathway that produces the activated amino sugar UDP-N-acetylglucosamine, a critical substrate for protein glycosylation. Despite its biological significance, little is known about the regulation of HBP flux during nutrient limitation. Here, we report that amino acid or glucose shortage increase GFAT1 production, the first...
متن کاملHexosamine biosynthesis pathway ( HBP )
27 There is increasing evidence that endoplasmic reticulum (ER) stress contributes to the 28 development atherosclerosis in diabetes mellitus. The purpose of this study was to determine the effects 29 of increased hexosamine biosynthesis pathway (HBP) flux on ER stress levels and the complications of 30 ER stress associated with diabetes and atherosclerosis in hepatic cells. Glutamine:fructose-...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2011
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2011.01.008