WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
Kun HuMalgorzata ZatykaDewi AstutiNicola L BeerRenuka P DiasArchana KulkarniJohn AinsworthBenjamin WrightAnna MajanderPatrick Yu-Wai-ManDenise WilliamsTimothy G BarrettPublished in: Journal of medical genetics (2021)
Patients with WFS who have partial WFS1 protein expression present with milder visual impairment. This suggests a protective effect of partial WFS1 protein expression on the severity and perhaps progression of vision impairment and that therapies to increase residual WFS1 protein expression may be beneficial.
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