Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease
Sign Up to like & getrecommendations! Published in 2025 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200291
Abstract: Background and Objectives Canavan disease (CD) is a neurodegenerative disorder in which biallelic pathogenic variants in ASPA result in spongiform degeneration of the cerebral white matter, leading to progressive and irreversible motor and cognitive decline.… read more here.
Keywords: pathogenic variant; canavan disease; sva insertion; insertion ... See more keywords
Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expressions in the Central Nervous System
Sign Up to like & getrecommendations! Published in 2024 at "Biomolecules"
DOI: 10.3390/biom14030358
Abstract: Transposable elements (TEs) are repetitive elements which make up around 45% of the human genome. A class of TEs, known as SINE-VNTR-Alu (SVA), demonstrate the capacity to mobilise throughout the genome, resulting in SVA polymorphisms… read more here.
Keywords: central nervous; nervous system; sva insertion; gene ... See more keywords