Progressive signs of ataxia in a eight year old girl with hypo-active knee and ankle jerks, prompted the analysis of the frataxin gene (FXN; 606829). The most common molecular abnormality--GAA trinucleotide repeat expansion in intron 1--was found with +300 GAA repeats (1490 bp) (normal individuals have 5 to 30 GAA repeats expansions, whereas affected individuals have from 70 to more than 1000 G...

Abstract Methyl group donors (e.g., methionine, betaine) may improve performance of growing beef cattle. Our objective was to evaluate effects betaine supplementation on protein deposition and plasma amino acids in steers with altered methyl status. Seven ruminally cannulated Holstein (189 kg) were used a 6×6 Latin square design 10-d periods. Factorial treatments continuously infused abomasally...

Pompe disease is caused by autosomal recessive mutations in the acid alpha-glucosidase (GAA) gene, which encodes GAA. Although enzyme replacement therapy has recently improved patient survival greatly, the results in skeletal muscles and for advanced disease are still not satisfactory. Here, we report the derivation of Pompe disease-induced pluripotent stem cells (PomD-iPSCs) from two patients ...

The Generic Authentication Architecture (GAA) is a standardised extension to the mobile authentication infrastructure that enables the provision of security services, such as key establishment, to network applications. In this paper we first show how Trusted Computing can be extended in a GAA-like framework to offer new security services. We then propose a general scheme that converts a simple ...

Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the deficiency of acid alpha-glucosidase (GAA; acid maltase; EC 3.2.1.20), which primarily involves cardiac and skeletal muscles. An adeno-associated virus 2/8 (AAV2/8) vector containing the muscle creatine kinase (MCK) (CK1) reduced glycogen content by approximately 50% in the heart and quadriceps in GAA-knockout (GAA-KO) ...

INTRODUCTION Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS We studied the frequency and the size of expanded GAA and their influence on neurolog...

Five formerly unidentified peaks in the column chromatogram of urinary compounds giving the Sakaguchi reaction appear to be proteins or polypeptides containing arginine. If these substances, salts, and creatine are first removed, then guanidinoacetate (GAA), guanidinosuccinate (GSA), and creatine are readily measured in urine. This technique was applied to the urine of 17 healthy men and 10 hea...

BACKGROUND Friedreich's ataxia (FRDA), the most common recessive ataxia in Caucasians, is due to severely reduced levels of frataxin, a highly conserved protein, that result from a large GAA triplet repeat expansion within the first intron of the frataxin gene (FXN). Typical marks of heterochromatin are found near the expanded GAA repeat in FRDA patient cells and mouse models. Histone deacetyla...

Gassericin A is a circular bacteriocin produced by Lactobacillus gasseri strain LA39. We found a 33,333-bp plasmid, designated pLgLA39, in this strain. pLgLA39 contained 44 open reading frames, including seven genes related to gassericin A production/immunity (gaa), as well as genes for replication, plasmid maintenance, and conjugative transfer. pLgLA39 was transferred from LA39 to the type str...

Generalized Adaptive A* (GAA*) is an incremental algorithm that replans using A* when solving goal-directed navigation problems in dynamic terrain. Immediately after each A* search, it runs an efficient procedure that updates the heuristic values of states that were just expanded by A*, making them more informed. Those updates allow GAA* to speed up subsequent A* searches. Being based on A*, it...