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Brain Disease

Reports summarize brain disease study results from Linkoping University

Published in Proteomics Weekly, August 10th, 2009

"Carbonic anhydrase II deficiency syndrome or Marble brain disease (MBD) is caused by autosomal recessive mutations in the human carbonic anhydrase II (HCA II) gene," scientists writing in the journal Biochemistry report.

"Here we report a small-molecule stabilization study of the exceptionally destabilized HCA II mutant H107Y employing inhibitors based on p-aminobenzoyisulfonamide compounds and 1,3,4-thiadiazolylsulfonamides as well as amino acid activators. Protein stability assays showed a significant stabilization by the aromatic sulfonamide inhibitors when present at 10 mc M concentration, providing shifts of the midpoint of thermal denaturation between 10...

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