The outer retina is nourished from the choroid, a capillary bed just inside the sclera. O2,
glucose, and other nutrients diffuse out of the choroid and then filter through a monolayer of …

Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping …

George Weber was among the first to recognize that extensive metabolic changes must
underlie the unbridled proliferation of cancer cells. 1 His molecular correlation hypothesis …

The cellular mechanisms underlying hereditary photoreceptor degeneration are still poorly
understood, a problem that is exacerbated by the enormous genetic heterogeneity of this …

Inosine monophosphate dehydrogenase (IMPDH) mediates the first committed step in
guanine nucleotide biosynthesis and plays important roles in cellular proliferation and the …

Abstract Inosine-5′-monophosphate dehydrogenase (IMPDH), a key regulatory enzyme in
purine nucleotide biosynthesis, dynamically assembles filaments in response to changes in …

The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

MicroRNAs play a fundamental role in retinal development and function. To characterise the
miRNome of the human retina, we carried out deep sequencing analysis on sixteen …

purpose. The purpose of this study was to determine the frequency and spectrum of inosine
monophosphate dehydrogenase type I (IMPDH1) mutations associated with autosomal …

Inosine-5′-monophosphate dehydrogenase (IMPDH) is a highly conserved enzyme in
purine metabolism that is tightly regulated on multiple levels. IMPDH has a critical role in …