Article

CLN7 mutation causes aberrant redistribution of protein isoforms and contributes to Batten disease pathobiology

2022-04-21

Abstract excerpt

The variant late infantile form of the inherited neurodegenerative Batten disease (BD) is caused by mutations in the CLN7/MFSD8 gene and represents a strong candidate for gene therapy. Post-natal intracerebral administration of AAV9-hCLN7 to Cln7 Δex2 knockout mice resulted in extended lifespan but dose escalation resulted in reduced acuity in neurophysiology tests, cerebral atrophy and elevated neuroinflammation...

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Literature Corpus work: 79c0b9f4-c683-5923-9c9e-026517cdb180
DOI: 10.1101/2022.04.21.488782

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