The phospholipase A2 (PLA2) superfamily contains more than 50 enzymes in mammals that
are subdivided into several distinct families on a structural and biochemical basis. In …

The retinal pigment epithelium-photoreceptor interphase is renewed each day in a stunning
display of cellular interdependence. While photoreceptors use photosensitive pigments to …

Autosomal‐dominant spinocerebellar ataxias, autosomal‐recessive spinocerebellar ataxias,
and hereditary spastic paraplegias have traditionally been designated in separate …

The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …

The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision
and blindness, was investigated in families lacking a molecular diagnosis. A refined locus …

Among the family of phospholipases A 2 (PLA 2 s) are the Ca 2+-independent PLA 2 s (iPLA
2 s) and they are designated group VI iPLA 2 s. In relation to secretory and cytosolic PLA 2 s …

Abstract In essence,“phospholipase A 2”(PLA 2) means a group of enzymes that release
fatty acids and lysophospholipids by hydrolyzing the sn-2 position of glycerophospholipids …

Choline supplies methyl groups for regeneration of methionine and the methyl donor S-
adenosylmethionine in the liver. Here, we report that the catabolism of membrane …

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 …

Recessive ataxias (spinocerebellar ataxias, recessive or SCARs) are a heterogeneous
group of rare, mostly neurodegenerative genetic disorders which usually start in childhood …