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Article

Distinct molecular mechanisms of <i>HTRA1</i> mutants in manifesting heterozygotes with CARASIL

28 Apr 2016

Abstract excerpt

OBJECTIVE: To elucidate the molecular mechanism of mutant HTRA1-dependent cerebral small vessel disease in heterozygous individuals. METHODS: We recruited 113 unrelated index patients with clinically diagnosed cerebral small vessel disease. The coding sequences of the HTRA1 gene were analyzed. We evaluated HTRA1 protease activities using casein assays and oligomeric HTRA1 formation using gel filtration...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 27164673
DOI: 10.1212/wnl.0000000000002694

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