Down syndrome: Neurobiological alterations and therapeutic targets

RA Vacca, S Bawari, D Valenti, D Tewari… - Neuroscience & …, 2019 - Elsevier
Down syndrome (DS) is a genetic disease that occurs due to an aneuploidy of human
chromosome 21. Trisomy of chromosome 21 is a primary genetic cause of developmental …

New approaches to studying early brain development in Down syndrome

AA Baburamani, PA Patkee, T Arichi… - … medicine & child …, 2019 - Wiley Online Library
Down syndrome is the most common genetic developmental disorder in humans and is
caused by partial or complete triplication of human chromosome 21 (trisomy 21). It is a …

Altered cell and RNA isoform diversity in aging Down syndrome brains

CR Palmer, CS Liu, WJ Romanow… - Proceedings of the …, 2021 - National Acad Sciences
Down syndrome (DS), trisomy of human chromosome 21 (HSA21), is characterized by
lifelong cognitive impairments and the development of the neuropathological hallmarks of …

Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation

KD Sullivan, D Evans, A Pandey, TH Hraha, KP Smith… - Scientific reports, 2017 - nature.com
Abstract Trisomy 21 (T21) causes Down syndrome (DS), but the mechanisms by which T21
produces the different disease spectrum observed in people with DS are unknown. We …

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 …

[HTML][HTML] Overproduction of hydrogen sulfide, generated by cystathionine β-synthase, disrupts brain wave patterns and contributes to neurobehavioral dysfunction in a …

T Panagaki, L Lozano-Montes, L Janickova, K Zuhra… - Redox Biology, 2022 - Elsevier
Using a novel rat model of Down syndrome (DS), the functional role of the cystathionine-β-
synthase (CBS)/hydrogen sulfide (H 2 S) pathway was investigated on the pathogenesis of …

Therapeutic evaluation of solid lipid nanoparticle of quercetin in pentylenetetrazole induced cognitive impairment of zebrafish

N Rishitha, A Muthuraman - Life sciences, 2018 - Elsevier
Background Quercetin is a major flavonoid in various plants. It possesses the multiple
pharmacological actions like vascular integrity and regulatory action of the blood-brain …

Discovery of a small molecule drug candidate for selective NKCC1 inhibition in brain disorders

A Savardi, M Borgogno, R Narducci, G La Sala… - Chem, 2020 - cell.com
Aberrant expression ratio of Cl− transporters, NKCC1 and KCC2, is implicated in several
brain conditions. NKCC1 inhibition by the FDA-approved diuretic drug, bumetanide, rescues …

Intranasal administration of kyccsrk peptide rescues brain insulin signaling activation and reduces alzheimer's disease-like neuropathology in a mouse model for …

A Tramutola, S Lanzillotta, G Aceto, S Pagnotta… - Antioxidants, 2023 - mdpi.com
Down syndrome (DS) is the most frequent genetic cause of intellectual disability and is
strongly associated with Alzheimer's disease (AD). Brain insulin resistance greatly …

Neuronal excitatory-to-inhibitory balance is altered in cerebral organoid models of genetic neurological diseases

ST Foliaki, B Schwarz, BR Groveman, RO Walters… - Molecular brain, 2021 - Springer
The neuro-physiological properties of individuals with genetic pre-disposition to
neurological disorders are largely unknown. Here we aimed to explore these properties …