神经科学
生物
突变
原位杂交
突触
基因
遗传学
基因表达
作者
Florence Molinari,Marlène Rio,Virginia Meskenaïte,Férechté Encha-Razavi,Joëlle Augé,Delphine Bacq,Sylvain Briault,Michel Vekemans,Arnold Münnich,Tania Attié‐Bitach,P. Sonderegger,Laurence Colleaux
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2002-11-29
卷期号:298 (5599): 1779-1781
被引量:184
标识
DOI:10.1126/science.1076521
摘要
A 4–base pair deletion in the neuronal serine protease neurotrypsin gene was associated with autosomal recessive nonsyndromic mental retardation (MR). In situ hybridization experiments on human fetal brains showed that neurotrypsin was highly expressed in brain structures involved in learning and memory. Immuno-electron microscopy on adult human brain sections revealed that neurotrypsin is located in presynaptic nerve endings, particularly over the presynaptic membrane lining the synaptic cleft. These findings suggest that neurotrypsin-mediated proteolysis is required for normal synaptic function and suggest potential insights into the pathophysiological bases of mental retardation.
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