Heterogenität SHANK2-bedingter neuropsychiatrischer Störungen

Abstract

The significance of SHANK proteins in human behaviour is evidenced
by the wide spectrum of neuropsychiatric disorders in patients with
SHANK mutations and the variety of behavioural impairments of Shank
knockout mouse lines. Differentially expressed SHANK isoforms might
explain this complexity. The analysis of three conventional and seven
conditional Shank2 mouse lines showed that the type of SHANK2
mutation critically determines the physiological and behavioural
impairments.

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