Dementia in Down syndrome: unique insights for Alzheimer disease research

IT Lott, E Head - Nature Reviews Neurology, 2019 - nature.com
Virtually all adults with Down syndrome (DS) show the neuropathological changes of
Alzheimer disease (AD) by the age of 40 years. This association is partially due to …

Oxidative damage in neurodegeneration: roles in the pathogenesis and progression of Alzheimer disease

M Perluigi, F Di Domenico… - Physiological …, 2024 - journals.physiology.org
Alzheimer disease (AD) is associated with multiple etiologies and pathological mechanisms,
among which oxidative stress (OS) appears as a major determinant. Intriguingly, OS arises …

GABAA Receptor Subtypes: Therapeutic Potential in Down Syndrome, Affective Disorders, Schizophrenia, and Autism

U Rudolph, H Möhler - Annual review of pharmacology and …, 2014 - annualreviews.org
The γ-aminobutyric acid (GABA) system plays a pivotal role in orchestrating the
synchronicity of local networks and the functional coupling of different brain regions. Here …

Activation of the ISR mediates the behavioral and neurophysiological abnormalities in Down syndrome

PJ Zhu, S Khatiwada, Y Cui, LC Reineke, SW Dooling… - Science, 2019 - science.org
Down syndrome (DS) is the most common genetic cause of intellectual disability. Protein
homeostasis is essential for normal brain function, but little is known about its role in DS …

DYRK1A protein kinase promotes quiescence and senescence through DREAM complex assembly

L Litovchick, LA Florens, SK Swanson… - Genes & …, 2011 - genesdev.cshlp.org
In the absence of growth signals, cells exit the cell cycle and enter into G0 or quiescence.
Alternatively, cells enter senescence in response to inappropriate growth signals such as …

New insights into the troubles of aneuploidy

JJ Siegel, A Amon - Annual review of cell and developmental …, 2012 - annualreviews.org
Deviation from a balanced genome by either gain or loss of entire chromosomes is generally
tolerated poorly in all eukaryotic systems studied to date. Errors in mitotic or meiotic cell …

Outcome measures for clinical trials in Down syndrome

AJ Esbensen, SR Hooper, D Fidler… - … on intellectual and …, 2017 - meridian.allenpress.com
Increasingly individuals with intellectual and developmental disabilities, including Down
syndrome, are being targeted for clinical trials. However, a challenge exists in effectively …

Deficits in human trisomy 21 iPSCs and neurons

JP Weick, DL Held, GF Bonadurer III… - Proceedings of the …, 2013 - National Acad Sciences
Down syndrome (trisomy 21) is the most common genetic cause of intellectual disability, but
the precise molecular mechanisms underlying impaired cognition remain unclear …

Molecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disorders

D Schubert, GJM Martens, SM Kolk - Molecular psychiatry, 2015 - nature.com
The prefrontal cortex (PFC), seat of the highest-order cognitive functions, constitutes a
conglomerate of highly specialized brain areas and has been implicated to have a role in …

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 …