Glycogen Storage Disease type Ia (GSD-Ia) in humans frequently causes delayed bone maturation, decrease in final adult height, and decreased growth velocity. This study evaluates the pathogenesis of growth failure and the effect of gene therapy on growth in GSD-Ia affected dogs and mice. Here we found that homozygous G6pase (-/-) mice with GSD-Ia have normal growth hormone (GH) levels in respon...

INTRODUCTION Immune-adherence (IA) has been described as a specific immunological reaction wherein microorganisms or other particulate antigens sensitized with antibody (Ab) and complement (C') become attached to the surface of human or monkey erythrocytes." Certain practical advantages of IA noted in recent studies have emphasized the necessity for an understanding of the fundamental nature of...

Cysteines are thought integral to conformational epitopes of islet antigen-2 (IA-2) autoantibodies (IA-2A), possibly through disulfide bond formation. We therefore investigated which cysteines are critical to IA-2A binding in patients with newly diagnosed type 1 diabetes. All 10 cysteines in the intracellular domain of IA-2 were modified to serine by site-directed mutagenesis, and the effects o...

OBJECTIVE We examined changes in GAD65 and ICA-512 autoantibodies (GADA and IA-2A) during progression to type 1 diabetes (T1D). RESEARCH DESIGN AND METHODS Diabetes Prevention Trial-Type 1 (DPT-1) participants were assessed for changes in positivity and titers of GADA and IA-2A during the progression to T1D. RESULTS Among 99 progressors to T1D with GADA and IA-2A measurements at baseline an...

Expression of immediate-early genes, like Egr-1, has been shown to be induced by activity-dependent synaptic plasticity or behavioral training and is widely thought to play an important role in long-term memory (LTM) formation. However, little is known about the role of Egr-1 in the maintenance of memory storage. Here we show that dorsal hippocampal Egr-1 protein expression is upregulated betwe...

BACKGROUND AND PURPOSE In congenital anosmia, the OB and OT can be aplastic or hypoplastic. In clinical routine, these are sometimes difficult to assess. We thus wanted to investigate morphologic differences of the OS in patients with IA since birth or early childhood in comparison with controls, to investigate whether there is a depth of OS that is predictive of IA. MATERIALS AND METHODS Wit...

OBJECTIVE Autoantibodies to IA-2β (IA-2βA) are important risk markers of type 1 diabetes. We report the first Diabetes Antibody Standardization Program (DASP) evaluation of IA-2βA assays. RESEARCH DESIGN AND METHODS Thirteen laboratories from nine countries received coded sera from 50 patients with newly diagnosed type 1 diabetes and 100 healthy blood donors. IA-2βA results were analyzed usin...

It was found that Ia antignes are rapidly secreted by a subpopulation of splenic T lymphocytes which are nonadherent and which express the surface phenotype Ly-1+, Ly-2-, and Ia-. Secretion of the Ia antigens was a metabolically active process which was inhibited by sodium azide and by Pactamycin, an inhibitor of protein synthesis.

OBJECTIVE Type 1 diabetes is a common chronic childhood disease, and the incidence is increasing globally. Childhood infections are considered a potential environmental trigger of type 1 diabetes. Alternatively, improved hygiene and reduced childhood infections could explain the increase in type 1 diabetes in developed countries. The association of reported illnesses during infancy and later de...