Generation and initial characterization of FDD knock in mice.

PloS One
Luca GilibertoLuciano D'Adamio

Abstract

Mutations in the integral membrane protein 2B, also known as BRI(2), a type II trans-membrane domain protein cause two autosomal dominant neurodegenerative diseases, Familial British and Danish Dementia. In these conditions, accumulation of a C-terminal peptide (ABri and ADan) cleaved off from the mutated precursor protein by the pro-protein convertase furin, leads to amyloid deposition in the walls of blood vessels and parenchyma of the brain. Recent advances in the understanding of the generation of amyloid in Alzheimer's disease has lead to the finding that BRI(2) interacts with the Amyloid Precursor Protein (APP), decreasing the efficiency of APP processing to generate Abeta. The interaction between the two precursors, APP and BRI(2), and possibly between Abeta and ABri or ADan, could be important in influencing the rate of amyloid production or the tendency of these peptides to aggregate. We have generated the first BRI(2) Danish Knock-In (FDD(KI)) murine model of FDD, expressing the pathogenic decamer duplication in exon 6 of the BRI(2) gene. FDD(KI) mice do not show any evident abnormal phenotype, with normal brain histology and no detectable amyloid deposition in blood vessel walls or parenchyma. This new murine mouse m...Continue Reading

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Citations

May 24, 2012·Journal of Biomedicine & Biotechnology·Monica VitaleNicola Zambrano
Nov 5, 2010·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Robert TamayevLuciano D'Adamio
Nov 26, 2010·Proceedings of the National Academy of Sciences of the United States of America·Robert TamayevLuciano D'Adamio
Apr 30, 2011·Molecular Neurodegeneration·Hui Zheng, Edward H Koo
Apr 20, 2012·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Robert Tamayev, Luciano D'Adamio
Apr 28, 2012·Molecular Neurodegeneration·Robert Tamayev, Luciano D'Adamio
Sep 26, 2009·Brain Structure & Function·Holly J GarringerRuben Vidal
Mar 8, 2019·Neurocase·Zhengqiu ZhouDong Y Han
Apr 25, 2018·Medical Molecular Morphology·Shuji Matsuda, Takao Senda
Aug 21, 2021·The Journal of Biological Chemistry·Tao YinLuciano D'Adamio

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Datasets Mentioned

BETA
GQ424832

Methods Mentioned

BETA
transgenic
PCR
PCRs

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