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ZNF423 mutations are associated with Joubert Syndrome, a ciliopathy causing cerebellar vermis hypoplasia and ataxia

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Optic nerve disease research has demonstrated that Semax can support optic nerve function and visual outcomes in conditions including optic nerve atrophy and ischemic optic neuropathy

While both the N-terminal and C-terminal regions of ATG2 exhibit affinity for membranes, studies conducted in cellular contexts suggest that the function of the N-terminal region is linked to its interaction with the ER, whereas the C-terminal amphipathic helix plays a crucial role in directing ATG2A to phagophores and lipid droplets (Tamura et al, 2017