BACKGROUND Gaucher disease is an inborn, autosomal recessive error of the metabolism which belongs to the group of lysosomal storage disorders. OBJECTIVE This work reports on the treatment of Gaucher disease in several members of the same family from the countryside of Maranhão. METHODS This was an observational, retrospective and prospective, descriptive case study about the efficacy of en...

BACKGROUND AND OBJECTIVES Chitinases are enzymes that hydolyze chitin and have been found in a wide variety of nonvertebrate species; recently an human analogue of chitinases, chitotriosidase (CT) has been identified. Extreme elevations of plasma CT activity are observed in patients with Gaucher disease (GD), being Gaucher cells the source of the CT. It has been reported a 24 bp duplication in ...

BACKGROUND The cerebrospinal fluid (CSF) biomarkers total tau, abnormally phosphorylated tau and amyloid β 1-42 are strongly associated with Alzheimer's disease (AD). Apart from the pathologic hallmarks that these biomarkers represent, other processes such as inflammation and microglial activation are present in the brains of patients with AD. New biomarkers related to these processes could be ...

BACKGROUND Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as well as analysis of chitotriosidase and CCL18/PARC as biomarkers. Even though chitotriosidase is the most well-established biomarke...

BACKGROUND The results of sputum culture for Mycobacterium tuberculosis must be awaited in most cases, which delays the start of treatment in patients with sputum smear-negative pulmonary tuberculosis. We investigated whether plasma chitotriosidase activity is a strong marker for early diagnosis of tuberculosis in patients for whom a bacillus smear is negative and tuberculosis culture is positi...

Introduction: t(14;18)-neg FL cases show similar copy number alterations and mutations as carried by t(14;18)-pos FL, but with different frequencies. STAT6 are significantly more frequent in than correlate CD23 expression. The consequences of have not been investigated, the impact pathway activation on tumor microenvironment, which plays a central role largely unknown. (i.e., IL4R), demonstrate...

Family 18 of glycosyl hydrolases encompasses chitinases and so-called chi-lectins lacking enzymatic activity due to amino acid substitutions in their active site. Both types of proteins widely occur in mammals although these organisms lack endogenous chitin. Their physiological function(s) as well as evolutionary relationships are still largely enigmatic. An overview of all family members is pr...

BACKGROUND Crimean-Congo hemorrhagic fever (CCHF) is a public health problem in many countries. Chitotriosidase (ChT) is an enzyme secreted by activated macrophages that catalyzes the hydrolysis of chitin and chitin-like substrates. The goal of this study was to assess the relationship between serum ChT activity and mortality. METHODS ChT activities on the first day of hospitalization were an...

Table of Contents 1 Introduction 1 1.1 Structure and function of chitinases 1 1.2 Filarial chitinases are potential targets for interventions 4 1.3 A. viteae as a model to investigate parasitological parameters of filarial diseases 6 1.4 Aims and objectives of the study 7 2 Results 9 2.1 Characterisation of A. viteae chitinase genes 9 2.1.1 Determination of the gene structure of A. viteae chiti...

Activation of a heterotrimeric G-protein by an agonist-stimulated G-protein coupled receptor requires the propagation of structural signals from the receptor binding interface to the guanine nucleotide binding pocket of the G-protein. To probe the molecular basis of this signaling process, we are applying high-resolution NMR to track structural changes in an isotope-labeled, full length G-prote...