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Publications

A list of ProgStar updates, news and publications, as well as publications relevant to STGD by ProgStar study investigators.

For a list of all published ProgStar study reports please click here.

A video of a presentation by HPN Scholl (including ppt slides ) and a summary of the main ProgStar study results may be found here.

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.

Mutations in the ABCA4 gene are a common cause of autosomal recessive retinal degeneration. All mouse models to date are based on knockouts of Abca4, even though the disease is often caused by missense mutations such as the complex allele L541P;A1038V (PV). We now show that the PV mutation causes severe human disease whereas the V mutation alone causes mild disease. Read More…