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Mutations in the gene SCAPER (S-phase CyclinA Associated Protein residing in the Endoplasmic Reticulum) have recently been identified as causing syndromic autosomal recessive retinitis pigmentosa… (More)
Cdc48 (also known as p97 or VCP) is an essential and highly abundant, double-ring AAA+ ATPase, which is ubiquitous in archaea and eukaryotes. In archaea, Cdc48 ring hexamers play a direct role in… (More)
PURPOSE To characterize and bring awareness to the disease spectrum of female choroideremia patients, as severity can vary from mild, to severe disease comparable to that observed in males. DESIGN… (More)
Autoimmune retinopathy (AIR) is a rare inflammatory condition characterized by progressive visual loss, abnormalities in visual fields and electroretinographic exams, along with presence of… (More)
Proteasomes are ubiquitous ATP-dependent proteases that function in eukarya, archaea, and actinobacteria. These proteolytic machines employ a barrel-shaped 20S core peptidase and a hexameric AAA+… (More)
We analyze disease progression in retinitis pigmentosa (RP) according to mode of inheritance by quantifying the progressive decrease of the ellipsoid zone (EZ) line width on spectral domain optical… (More)