Amino acid transporters (AATs) are membrane-bound transport proteins that mediate
transfer of amino acids into and out of cells or cellular organelles. AATs have diverse …

Besides its essential role in protein synthesis, cysteine plays vital roles in redox
homeostasis, being a component of the major antioxidant glutathione (GSH) and a potent …

Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A
genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the …

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

Prohibitin 1 (PHB1) and prohibitin 2 (PHB2) are proteins that are ubiquitously expressed,
and are present in the nucleus, cytosol, and mitochondria. Depending on the cellular …

Familial idiopathic nephrotic syndromes represent a heterogeneous group of kidney
disorders, and include autosomal recessive steroid-resistant nephrotic syndrome, which is …

Abstract “Lysosomal glycogen storage disease with normal acid maltase”, which was
originally described by Danon et al., is characterized clinically by cardiomyopathy, myopathy …

Abstract Lysosome-associated membrane protein-2 (LAMP-2) is a highly glycosylated
protein and an important constituent of the lysosomal membrane,,,,,,. Here we show that …

Cystinosis, a rare autosomal recessive lysosomal storage disease, is due to impaired
transport of cystine from lysosomes. The disease results in deposition of crystals throughout …