U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer’s disease due to autosomal dominant genetic mutations and trisomy 21

• Published in: Molecular neurodegeneration Vol. 9; no. 1; p. 15
• Main Authors: Hales, Chadwick M, Seyfried, Nicholas T, Dammer, Eric B, Duong, Duc, Yi, Hong, Gearing, Marla, Troncoso, Juan C, Mufson, Elliott J, Thambisetty, Madhav, Levey, Allan I, Lah, James J
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 28.04.2014; BioMed Central
• Subjects: Adult; Advertising executives; Aged; Aged, 80 and over; Aging; Alzheimer Disease - genetics; Alzheimer Disease - metabolism; Alzheimer Disease - pathology; Alzheimer's disease; Amyloid beta-Protein Precursor - genetics; Analysis; Brain research; Down syndrome; Down Syndrome - complications; Female; Health aspects; Humans; Immunohistochemistry; Male; Medical research; Medicine; Medicine, Experimental; Microscopy; Microscopy, Electron, Transmission; Middle Aged; Mutation; Neuropathology; Pathogenesis; Pathology; Physiological aspects; Presenilin-1 - genetics; Proteins; Proteomics; Ribonucleoprotein, U1 Small Nuclear - metabolism; Short Report; United States > US; Baltimore Maryland; Chicago Illinois

We recently identified U1 small nuclear ribonucleoprotein (snRNP) tangle-like aggregates and RNA splicing abnormalities in sporadic Alzheimer's disease (AD). However little is known about snRNP biology in early onset AD due to autosomal dominant genetic mutations or trisomy 21 in Down syndrome....