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The MAPT Isoform 0N3R Is Essential for Human Brain Development and Intolerant to Haploinsufficiency – Loss of Function as Disease Mechanism for TAU Associated Disease

2023-12-07

Abstract excerpt

TAU is the main disease driver in Alzheimer’s and many other sporadic and genetic tauopathies. TAU is differently spliced, the role of individual splice-isoforms unclear. Murine Mapt-KO mice are healthy, and protected from Alzheimer’s, but no such case has been reported in humans. Using gnomad database, we here demonstrate that the only isoform expressed during fetal human brain development is intolera...

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Literature Corpus work: 8e39b39c-52d6-5ff8-9011-9a6cc00d8910
DOI: 10.20944/preprints202312.0513.v1

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