Michelle Fry (@myfry.bsky.social)

Excited to share our collaborative work characterizing a pathogenic mutation in Opa1 found in ADOA patients that began when Tom Schwarz @BostonChildrens presented a seminar @MGHMolBio biorxiv.org/content/10.1... @lukechao.bsky.social

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Loss of SARM1 protects against retinal ganglion cell degeneration in Autosomal Dominant Optic Atrophy Autosomal Dominant Optic Atrophy (ADOA), the most prevalent inherited optic neuropathy, leads to retinal ganglion cell (RGC) degeneration and vision loss. ADOA is primarily caused by mutations in the ... https://biorxiv.org/content/10.1101/2024.09.30.615936v1