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Article

Sonic Hedgehog repression underlies gigaxonin mutation–induced motor deficits in giant axonal neuropathy

11 Sept 2019

Abstract excerpt

Growing evidence shows that alterations occurring at early developmental stages contribute to symptoms manifested in adulthood in the setting of neurodegenerative diseases. Here, we studied the molecular mechanisms causing giant axonal neuropathy (GAN), a severe neurodegenerative disease due to loss-of-function of the gigaxonin-E3 ligase. We showed that gigaxonin governs Sonic Hedgehog (Shh) induction, the...

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PMID: 31503551
DOI: 10.1172/jci129788

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