Genetic defects in the hexosamine and sialic acid biosynthesis pathway
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- 作者：Anke P. Willemsa ; b ; Baziel G.M. van Engelena ; Dirk J. Lefebera ; b ; Dirk.Lefeber@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author
- 关键词：AChE ; Acetylcholinesterase ; AChR ; Acetylcholine Receptor ; ALG13 ; 14 ; UDP-N-acetylglucosaminyltransferase subunit 13 ; 14 ; AMDHD2 ; Amidohydrolase domain containing 2 ; ATP ; Adenosine triphosphate ; Aβ ; Amyloid β ; CDG ; Congenital disorders of glycosylation ; CMAS ; Cytidine monophosphate N-acetylneuraminic acid synthetase ; CMP ; Cytidine monophosphate ; CMS ; Congenital myasthenic syndrome ; CTP ; Cytidine triphosphate ; DMRV ; Distal myopathy with rimmed vacuoles ; DPAGT1 ; Dolichyl-phosphate (UDP-N-acetylgluco
- 刊名：Biochimica et Biophysica Acta (BBA) - General Subjects
- 出版年：2016
- 出版时间：August 2016
- 年：2016
- 卷：1860
- 期：8
- 页码：1640-1654
- 全文大小：962 K
文摘
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Genetic defects in sugar supply pathways cause tissue-specific disease phenotypes
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Hexosamine and sialic acid synthesis is essential for various glycosylation pathways.
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Current knowledge on sugar metabolism is insufficient to understand disease symptoms.
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Research to link sugar metabolism and glycosylation will open therapeutic opportunities.