Analyses of Variant Acid Β-glucosidases: Effects of Gaucher Disease Mutations†
نویسندگان
چکیده
DISEASE MUTATIONS† Benjamin Liou, Andrzej Kazimierczuk, Min Zhang, C. Ronald Scott, Rashmi S. Hegde and Gregory Grabowski From The Children’s Hospital Research Foundation, Division and Program in Human Genetics, and the Division of Developmental Biology, Cincinnati, Ohio, Department of Pediatrics, University of Cincinnati College of Medicine, University of Washington, School of Medicine, Department of Pediatrics Running Title: Variant Human Acid β-glucosidase Address correspondence to: Gregory A. Grabowski, M.D., Division and Program in Human Genetics, Children’s Hospital Research Foundation, 3333 Burnet Avenue, MLC 4006, Cincinnati, Ohio 45229-3039, Tel: 513-636-7290; Fax: 513-636-2261; E-Mail: [email protected]
منابع مشابه
Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher patients
Gaucher's disease (GD) is the most frequent lysosomal storage disorder resulting from a deficiency of the enzyme glucocerebrosidase (GBA) which causes the accumulation of glucocerebroside. More than 500 mutations have been reported on the GBA gene so far. In this study, we aimed to investigate more on the genotype of less known mutations through haplotype analysis to explain their disease-causi...
متن کاملSets of Covariant Residues Modulate the Activity and Thermal Stability of GH1 β-Glucosidases
The statistical coupling analysis of 768 β-glucosidases from the GH1 family revealed 23 positions in which the amino acid frequencies are coupled. The roles of these covariant positions in terms of the properties of β-glucosidases were investigated by alanine-screening mutagenesis using the fall armyworm Spodoptera frugiperda β-glycosidase (Sfβgly) as a model. The effects of the mutations on th...
متن کاملP-111: An Attempt to Facilitate the Production of Transgenic Mouse As A Model for Gene Therapy of Gaucher Disease
Background: Gaucher disease is an autosomal recessive inherited lysosomal storage disorder that affects many of the body's organs and tissues by defective function of the catabolic enzyme β-glucocerebrosidase. Gene therapy is one of the efficient ways for treatment of this disease. Due to the lack of appropriate animal models, in the field of gene therapy little progress has been done.Mate...
متن کاملNucleotide mutation analyses of isolated lentogenic newcastle disease virus in live bird market
Newcastle Disease (ND) is a major viral disease in Indonesia. It is an RNA virus belongs to Paramyxovirinae. It is well known that RNA virus is easily to mutate. In some cases, this mutation could generate virulence alteration. It is noted that mutation of NDV which has avirulent amino acid sequence on the cleavage site, could mutate to be virulent Newcastle Disease Virus (NDV). It is needed to...
متن کاملNon-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
Gaucher disease is an autosomal recessive inborn error of glycosphingolipid metabolism caused by the deficient activity of the lysosomal hydrolase, acid beta-glucosidase. Three phenotypically distinct subtypes result from different acid beta-glucosidase mutations encoding enzymes with absent or low activity. A severe neonatal type 2 variant who presented with collodion skin, ichthyosis, and a r...
متن کامل