BACKGROUND Epstein-Barr Virus (EBV) has a great co relationship with human malignancies such as gastric carcinoma. Synonymous codon investigations in viruses could help designing vaccine, to generate immunity. Codon Adaptation Index (CAI) has measured translation elongation rate, among the highly expressed genes. The aim of this study was: usage of "CAI" to measure translation efficiency to kno...

The EngA subfamily of essential bacterial GTPases has a unique domain structure consisting of two adjacent GTPase domains (GD1 and GD2) and a C-terminal domain. The structure of Thermotoga maritima Der bound to GDP determined at 1.9 A resolution reveals a novel domain arrangement in which the GTPase domains pack at either side of the C-terminal domain. Unexpectedly, the C-terminal domain resemb...

BACKGROUND The Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities between those states, and preferences for those states (utilities) based on the DS3 to predict long-term outcomes of patients starting treatment. We defined nine mutually exclusive (a...

Since thermoelectrics are an important way to produce electricity from waste heat, the thermoelectric properties of gadolinium copper telluride, GdCuTe2, together with the doped compounds gadolinium samarium copper telluride, Gd1-xSmxCuTe2, and gadolinium dysprosium copper telluride, Gd1-xDyxCuTe2, with x = 0.02 and x = 0.05 were investigated. Upon doping, a decrease in thermal conductivity and...

Gaucher disease, the most common lysosomal storage disorder, is caused by β-glucocerebrosidase deficiency. Bone complications are the major cause of morbidity in patients with type 1 Gaucher disease (GD1). Genetic components strongly influence bone remodelling. In addition, chronic inflammation produced by Gaucher cells induces the production of several cytokines, which leads to direct changes ...

Gaucher disease type 1 (GD1), caused by mutations in the GBA1 gene, results β-glucocerebrosidase (GCase) deficiency. Gene therapy is under investigation as a potential treatment option for patients with GD1. The investigational gene FLT201 consists of an adeno-associated virus (AAVS3) encoding novel GCase variant (GCase-85). Preclinical characterization showed promising results, GCase-85 being ...

INTRODUCTION Gaucher cells (GCs), the lipid-laden storage macrophages, are the pathologic hallmark of Gaucher disease (GD). They are typically 20-100 μm in diameter with eccentrically placed nuclei and cytoplasm with characteristic crinkles and striations. A few previous observations have indicated that sometimes GD patients may display morphology of GCs which is different from this classical d...

Velaglucerase alfa is a human β-glucocerebrosidase approved for Gaucher disease type 1 (GD1) treatment. This report summarizes the 7-year experience of the now-completed phase I/II and extension studies of adult GD1 patients who received velaglucerase alfa. Ten patients who completed the 9-month, phase I/II study entered the extension trial TKT025EXT, of which eight completed this study. Doses ...

background: epstein-barr virus (ebv) has a great co relationship with human malignancies such as gastric carcinoma. synonymous codon investigations in viruses could help designing vaccine, to generate immunity. codon adaptation index (cai) has measured translation elongation rate, among the highly expressed genes. the aim of this study was: usage of “cai” to measure translation efficiency to kn...

BACKGROUND GD1-DS3 is an integrated assessment of type 1 Gaucher disease (GD1) burden based on bone, hematologic and visceral domains. We investigated this disease severity scoring system (DS3) methodology for initial assessment, long-term follow-up and evaluation of treatment responses. METHODS We enrolled 133 treated adult GD1 patients. Baseline DS3 scores were calculated near the initial t...