Method for the Prediction of the Severity of Nuclear Envelope-related Diseases.

Nuclear envelopathies are diseases caused by a malfunction of nuclear envelope associated proteins or lamins. Nuclear envelopathies are heterogeneous group of diseases, ranging from muscle and lipid dystrophies to progeria. Genetic screening does not warrant a proper assessment of the impact of the mutation(s) due to a highly variable penetrance between affected individuals. Here we present a novel method to assess and predict clinical outcome by screening the loss of nucleo-cytoplasmic compartmentalization in patient cells. Furthermore, this method allows distinguishing between different types of laminopathies.

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Patents:
WO 2,010,146,186

Inventor(s): BROERS JOSEPH LEONARDUS VICTOR [NL]; HOUBEN FREDERIK [BE]; RAMAEKERS FRANCISCUS CHARLES SERVATIUS [NL]; OOSTVELDT VAN PATRIC MAU

Type of Offer: Sale



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