Zn-dependent carboxypeptidases (ZnCP) cleave off the C-terminal amino acid residues from proteins and peptides. Here we describe a superfamily that unites classical ZnCP with other enzymes, most of which are known (or likely) to participate in metal-dependent peptide bond cleavage, but not necessarily in polypeptide substrates. It is demonstrated that aspartoacylase (ASP gene) and succinylgluta...

cd8 deficiency is a rare primary immunodeficiency with low or absent peripheral cd8 cells which results from tap deficiency, zap 70 deficiency and cd8 α gene mutation. we report a 14 year old female who presented with a history of recurrent pneumonia, bronchiectasis, otitis, severe varicella, herpetic lesions of mouth, bilateral uveitis, and cataract formation since the age of 8 years. she had ...

Canavan disease (CD) is a rare early-onset progressive spongiform leukodystrophy in brain of both humans and animals and is due to mutations in the gene encoding for aspartoacylase (ASPA), the enzyme that hydrolyzes N-acetyl-L-aspartate (NAA) [1]. In humans, the effects of CD are generally much more profound than in rodents exhibiting this same genetic lesion. The gene for ASPA is an autosomal ...

Background: Imbalances in cellular energy homeostasis can lead to diseases such as type 2 diabetes, cardiovascular disease and cancer. The heart, which has to contract incessantly, is very sensitive to nutritional changes and requires optimal energy to fuel adjustment [1]. N-acetylaspartate (NAA) is one of the most abundant metabolites in brain [2] with yet unknown function. NAA is synthesized ...

Background: Imbalances in cellular energy homeostasis can lead to diseases such as type 2 diabetes, cardiovascular disease and cancer. The heart, which has to contract incessantly, is very sensitive to nutritional changes and requires optimal energy to fuel adjustment [1]. N-acetylaspartate (NAA) is one of the most abundant metabolites in brain [2] with yet unknown function. NAA is synthesized ...