A novel heterozygous HTRA1 mutation is associated with autosomal dominant hereditary cerebral small vessel disease

ConclusionsThe heterozygous mutation HTRA1 S205C causing diminished protease activity is associated with —and could represent a cause of—autosomal dominant hereditary cerebral SVD. Our results also indicate a relationship between HTRA1 and TGF‐β1/Smad signaling.

Source: Molecular Genetics & Genomic Medicine - April 1, 2020 Category: Genetics & Stem Cells Authors: Zhong ‐ling Zhuo, Lu Cong, Jun Zhang, Xiao‐tao Zhao Tags: ORIGINAL ARTICLE Source Type: research