Glycogen storage disease type II (Pompe disease) causes death in infancy from cardiorespiratory failure due to acid alpha-glucosidase (GAA; acid maltase) deficiency. An AAV2 vector pseudotyped as AAV6 (AAV2/6 vector) transiently expressed high-level human GAA in GAA-knockout (GAA-KO) mice without reducing glycogen storage; however, in immunodeficient GAA-KO/SCID mice the AAV2/6 vector expressed...

We introduce the Generic Agent Architecture (GAA) along with Biter—an implementation of our GAA for the RoboCup domain. The GAA incorporates an elegant object-oriented design meant to handle the type of activities typical for an agent in a multiagent system. These activities include reactive responses, long-term behaviors, and conversations with other agents. We also show how small modification...

Charge separation and charge transfer across interfaces are key aspects in the design of efficient photocatalysts for solar energy conversion. In this study, we investigate the hydrogen generating capabilities and underlying photophysics of nanostructured photocatalysts based on CdSe nanowires (NWs). Systems studied include CdSe, CdSe/CdS core/shell nanowires and their Pt nanoparticle-decorated...

The tunneling field-effect transistor (TFET) is one of the most promising candidates for future low-power electronics because of its potential to achieve a subthreshold swing less than the 60 mV/decade thermal limit at room temperature. It can surpass this limit because the turn-on of tunneling does not sample the Maxwell-Boltzmann distribution of carriers that gives rise to the 60 mV/decade li...

OBJECTIVES Guanidinoacetic acid (GAA) is a natural precursor of creatine, yet the potential use of GAA as a nutritional additive for restoring creatine availability in humans has been limited by unclear efficacy and safety after exogenous GAA administration. The present study evaluated the effects of orally administered GAA on serum and urinary GAA, creatine and creatinine concentration, and on...

We have used a peptide-based targeting system to improve lysosomal delivery of acid α-glucosidase (GAA), the enzyme deficient in patients with Pompe disease. Human GAA was fused to the glycosylation-independent lysosomal targeting (GILT) tag, which contains a portion of insulin-like growth factor II, to create an active, chimeric enzyme with high affinity for the cation-independent mannose 6-ph...

how to cite this article: heidari mm , khatami m, pourakrami j. novel point mutations in frataxin gene in iranian patients with friedreich’s ataxia. iran j child neurol. 2014 winter; 8(1):32-36.   objective friedreich’s ataxia is the most common form of hereditary ataxia with autosomal recessive pattern. more than 96% of patients are homozygous for gaa repeat extension on both alleles in the fi...

Guanidinoacetic acid (GAA) is the biosynthetic precursor of creatine which is involved in storage and transmission of phosphate-bound energy. Hepatocytes readily convert GAA to creatine, raising the possibility that the active uptake of GAA by hepatocytes is a regulatory factor. The purpose of this study is to investigate and identify the transporter responsible for GAA uptake by hepatocytes. T...