Hereditary degenerations of the human retina are genetically heterogeneous, with well over
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …

Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of
photoreceptors and characterized by retinal pigment deposits visible on fundus examination …

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

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 …

The AMP-activated protein kinase is a sensor of cellular energy status that is found in all
eukaryotic cells. It is activated by rising AMP and falling ATP by a complex mechanism that …

Cells constantly adjust their metabolism in response to environmental conditions, yet major
mechanisms underlying survival remain poorly understood. We discover a …

CBS domains are defined as sequence motifs that occur in several different proteins in all
kingdoms of life. Although thought to be regulatory, their exact functions have been …

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 …

purpose. To survey families with clinical evidence of autosomal dominant retinitis
pigmentosa (adRP) for mutations in genes known to cause adRP. methods. Two hundred …

Retinitis pigmentosa (RP) is the most common and highly heterogeneous form of hereditary
retinal degeneration. This study was to identify mutations in the 60 genes that were known to …