Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation.
Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation.
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DOI：
10.1371/journal.pone.0013743
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发表时间：
2010-10-29
期刊：
影响因子：
3.7
通讯作者：
Balice-Gordon RJ
中科院分区：
文献类型：
--
作者：
Song Y;Willer JR;Scherer PC;Panzer JA;Kugath A;Skordalakes E;Gregg RG;Willer GB;Balice-Gordon RJ
Congenital disorder of glycosylation type IIc (CDG IIc) is characterized by mental retardation, slowed growth and severe immunodeficiency, attributed to the lack of fucosylated glycoproteins. While impaired Notch signaling has been implicated in some aspects of CDG IIc pathogenesis, the molecular and cellular mechanisms remain poorly understood. We have identified a zebrafish mutant slytherin (srn), which harbors a missense point mutation in GDP-mannose 4,6 dehydratase (GMDS), the rate-limiting enzyme in protein fucosylation, including that of Notch. Here we report that some of the mechanisms underlying the neural phenotypes in srn and in CGD IIc are Notch-dependent, while others are Notch-independent. We show, for the first time in a vertebrate in vivo, that defects in protein fucosylation leads to defects in neuronal differentiation, maintenance, axon branching, and synapse formation. Srn is thus a useful and important vertebrate model for human CDG IIc that has provided new insights into the neural phenotypes that are hallmarks of the human disorder and has also highlighted the role of protein fucosylation in neural development.
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影响因子：
3.7
作者：
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Jiang YJ
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作者：
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通讯作者：
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影响因子：
4.8
作者：
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通讯作者：
Korner, Christian
影响因子：
2.7
作者：
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通讯作者：
Beattie, CE
影响因子：
4.3
作者：
Moloney, DJ;Haltiwanger, RS
通讯作者：
Haltiwanger, RS