M.J.
Today is: 23.11.2017, 17:25
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PROJECTS

Current research interests of our lab
a) Protein aggregation and degradation
b) CBS mutation database (HUGO-MDI)

1a. Protein degradation and aggregation
A recent report proposed that the majority of missense mutations in human genetic diseases alters the stability of proteins. Impaired stability of the secondary and tertiary protein structure makes the mutants prone to misfolding, which further leads to increased ubiquitinylation and rapid degradation, and/or to aggregation and sequestration to aggresomes. Diseases arising from such a mechanism are collectively named conformational diseases. The list of conformational diseases is growing rapidly and also includes examples of inborn errors of metabolism. We are studying the mechanisms by which several model cysthathionine beta-synthase (CBS) mutants aggregate in vivo. We modulate their misfolding and aggregation by chemical and pharmacological chaperones, and by various enzyme ligands.

1b. CBS mutation database
We collated the details of all known mutations in the CBS gene. To date, more than 164 mutations have been found on more than 924 CBS alleles. For a continuously updated record of CBS mutations we established the CBS mutation database. As a result of our work, the initial static tables listing all of the known CBS mutations have been replaced with "dynamic" tables that are fully searchable and can be sorted according to user-defined criteria. We have affiliated the CBS WebPages with the Human Genome Organization - Mutation Database Initiative (HUGO-MDI). The primary aim of the HUGO-MDI pilot project is to unite all mutation databases and to create a complete centralized human mutation database. Based on HUGO-MDI mutation database recommendations we have generated a standard form for the online submission of CBS mutant alleles. The mutations are then checked for consistency (to avoid duplication and/or mistakes) prior to their inclusion in the database.

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