Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cellular transport and secretion
• Share to Genetics and Neurodevelopmental Disorders
• Share to Neonatal and fetal brain pathology