{"id":24,"date":"2026-07-01T08:14:17","date_gmt":"2026-07-01T08:14:17","guid":{"rendered":"https:\/\/cellbiology-dev.i-med.ac.at\/?page_id=24"},"modified":"2026-07-20T09:08:14","modified_gmt":"2026-07-20T09:08:14","slug":"the-valovka-laboratory","status":"publish","type":"page","link":"https:\/\/cellbiology-dev.i-med.ac.at\/index.php\/the-valovka-laboratory\/","title":{"rendered":"The Valovka Laboratory"},"content":{"rendered":"
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The Valovka Laboratory: Molecular Basis of Rare Genetic Disorders<\/h1>\n\n\n\n

Rare diseases are often the result of harmful genetic variants but the precise molecular effects of these variants remain poorly understood. Our group is working to identify the genetic culprits behind the disorders and to uncover how they hijack cellular processes to cause disease. In close collaboration with the Department of Paediatrics and Adolescent Medicine at MUI (Andreas Janecke and Thomas M\u00fcller), we have identified and are studying unique pathogenic mutations in various genes, including PCNT, SLC5A1<\/a>, PCSK1<\/a>, RIPK1 and UNC45A.<\/p>\n\n\n\n

The osteo-oto-hepato-enteric (O2HE) syndrome is an autosomal recessive disease ascribed to loss-of-function mutations in the Unc-45 myosin chaperone A (UNC45A) gene. The clinical spectrum includes bone fragility, hearing loss, cholestasis, neurological symptoms and life-threatening diarrhoea associated with microvillus inclusion disease (MVID)-like enteropathy. We are trying to understand how a deficiency of or specific mutations in UNC45A affect the complex molecular mechanism of this severe neonatal disease. We have described a novel missense variant of UNC45A, c.710T>C, with unique pathogenicity caused by altered chaperone-myosin interactions rather than a complete loss of chaperone function. The findings indicate the possibility of treatment and may guide the development of targeted therapies.<\/p>\n\n\n\n

We are also screening natural anti-inflammatory compounds. In collaboration with the Austrian Drug Screening Institute (ADSI), we have developed a screening platform to identify and evaluate bioactive compounds in natural extracts. We were able to show the anti-inflammatory and cytoprotective polypharmacology of the complex herbal medicine Canephron N\u00ae (Bionorica SE) and to identify its mechanism of action.<\/p>\n\n\n\n

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Fig. 5: Abnormal mitotic morphology of MOPDII patient fibroblasts with mutated PCNT <\/em>variants<\/figcaption><\/figure>\n\n\n\n

Publications<\/h2>\n\n\n\n