Article

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons

2019-03-17

Abstract excerpt

Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by retina degeneration, obesity, kidney failure and cognitive impairment. In spite of a progress made in general understanding of BBS aetiology, the molecular mechanism of cognitive impairment remains elusive. Here we report that loss of Bardet-Biedl syndrome proteins causes synaptic dysfunction in principal neurons providing poss...

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Literature Corpus work: 540def6b-842c-5714-b272-500e3e2b23d9
DOI: 10.1101/580399

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