A5086318288- Lysosomal Storage Disorders Research
- Carbohydrate Chemistry and Synthesis
- Calcium signaling and nucleotide metabolism
- Glycosylation and Glycoproteins Research
- DNA Repair Mechanisms
- Biochemical and Molecular Research
- Epigenetics and DNA Methylation
- Enzyme Catalysis and Immobilization
- Biofuel production and bioconversion
- DNA and Nucleic Acid Chemistry
- Bacterial Genetics and Biotechnology
- Natural Antidiabetic Agents Studies
- Microbial Metabolic Engineering and Bioproduction
- Biomedical Research and Pathophysiology
- Trypanosoma species research and implications
- Enzyme Production and Characterization
- Glycogen Storage Diseases and Myoclonus
- Studies on Chitinases and Chitosanases
Institute of Biosciences and Bioresources
2017-2021
National Research Council
2011-2017
Institute of Protein Biochemistry
2011-2015
Consorzio Roma Ricerche
2013
Pompe disease, a rare lysosomal storage disease caused by deficiency of the acid α-glucosidase (GAA), is characterized glycogen accumulation, triggering severe secondary cellular damage and resulting in progressive motor handicap premature death. Numerous disease-causing mutations gaa gene have been reported, but structural effects pathological variants were unknown. Here we present high-resolution crystal structures recombinant human GAA (rhGAA), standard care disease. These portray unbound...
Pompe disease (PD) is a metabolic myopathy due to the deficiency of lysosomal enzyme α-glucosidase (GAA). The only approved treatment for this disorder, replacement with recombinant human GAA (rhGAA), has shown limited therapeutic efficacy in some PD patients. Pharmacological chaperone therapy (PCT), either alone or combination replacement, been proposed as an alternative strategy. However, chaperones identified so far also are active site-directed molecules and potential inhibitors target...
Agents that form methylation adducts in DNA are highly mutagenic and carcinogenic, organisms have evolved specialized cellular pathways devoted to their repair, including alkyltransferases. These proteins conserved eucarya, bacteria archaea, acting by a unique reaction mechanism, which leads direct repair of alkylation damage irreversible protein alkylation. The alkylated alkyltransferases is inactive, eukaryotes, it rapidly directed degradation. We report here vitro vivo studies on the...
VOLUME 287 (2012) PAGES 4222–4231 PAGE 4225: The central panel of Fig. 1B was mistakenly duplicated in the right panel. has been replaced with correct revised figure. This correction does not affect interpretation results or conclusions this work.
Pompe disease is an inherited metabolic disorder due to the deficiency of lysosomal acid
Carbohydrates play an important role in a variety of biological and industrial processes. The elucidation the structure/function relationship glycoside hydrolases (GHs) can help us to understand their implication various phenomena exploit catalytic features, i. e. pharmacological therapies or optimize processes. On basis these observations, this thesis work is directed study GHs and, besides general introduction illustrated chapter 1, it be subdivided two principal experimental sections...