Down syndrome: the brain in trisomic mode

M Dierssen - Nature Reviews Neuroscience, 2012 - nature.com
Down syndrome is the most common form of intellectual disability and results from one of the
most complex genetic perturbations that is compatible with survival, trisomy 21. The study of …

DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome

A Duchon, Y Herault - Frontiers in behavioral neuroscience, 2016 - frontiersin.org
Down syndrome (DS) is one of the leading causes of intellectual disability, and patients with
DS face various health issues, including learning and memory deficits, congenital heart …

Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model

KA Waugh, R Minter, J Baxter, C Chi, MD Galbraith… - Nature …, 2023 - nature.com
Down syndrome (DS), the genetic condition caused by trisomy 21, is characterized by
variable cognitive impairment, immune dysregulation, dysmorphogenesis and increased …

OLIG2 drives abnormal neurodevelopmental phenotypes in human iPSC-based organoid and chimeric mouse models of down syndrome

R Xu, AT Brawner, S Li, JJ Liu, H Kim, H Xue, ZP Pang… - Cell stem cell, 2019 - cell.com
Down syndrome (DS) is a common neurodevelopmental disorder, and cognitive defects in
DS patients may arise from imbalances in excitatory and inhibitory neurotransmission …

Mouse models of Down syndrome: gene content and consequences

M Gupta, AR Dhanasekaran, KJ Gardiner - Mammalian Genome, 2016 - Springer
Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), is challenging to model in
mice. Not only is it a contiguous gene syndrome spanning 35 Mb of the long arm of Hsa21 …

Identification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling Down syndrome

A Duchon, M Raveau, C Chevalier, V Nalesso… - Mammalian …, 2011 - Springer
Down syndrome (DS) is the most frequent genetic disorder leading to intellectual disabilities
and is caused by three copies of human chromosome 21. Mouse models are widely used to …

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

R Desai, AE Frazier, R Durigon, H Patel, AW Jones… - Brain, 2017 - academic.oup.com
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the
central nervous system and are among the most common neurogenetic disorders …

Mouse models of Down syndrome as a tool to unravel the causes of mental disabilities

N Rueda, J Flórez, C Martínez-Cué - Neural plasticity, 2012 - Wiley Online Library
Down syndrome (DS) is the most common genetic cause of mental disability. Based on the
homology of Hsa21 and the murine chromosomes Mmu16, Mmu17 and Mmu10, several …

Deficits in cognition and synaptic plasticity in a mouse model of Down syndrome ameliorated by GABAB receptor antagonists

AM Kleschevnikov, PV Belichenko, M Faizi… - Journal of …, 2012 - Soc Neuroscience
Cognitive impairment in Down syndrome (DS) is characterized by deficient learning and
memory. Mouse genetic models of DS exhibit impaired cognition in hippocampally mediated …

USP25 inhibition ameliorates Alzheimer's pathology through the regulation of APP processing and Aβ generation

Q Zheng, B Song, G Li, F Cai, M Wu… - The Journal of …, 2022 - Am Soc Clin Investig
Down syndrome (DS), or trisomy 21, is one of the critical risk factors for early-onset
Alzheimer's disease (AD), implicating key roles for chromosome 21–encoded genes in the …