Down syndrome: Neurobiological alterations and therapeutic targets
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 …
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 …
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
Down syndrome (DS), trisomy of human chromosome 21 (HSA21), is characterized by
lifelong cognitive impairments and the development of the neuropathological hallmarks of …
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 …
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
Down syndrome (DS) is a common neurodevelopmental disorder, and cognitive defects in
DS patients may arise from imbalances in excitatory and inhibitory neurotransmission …
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 …
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 …
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
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 …
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 …
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 …
neurological disorders are largely unknown. Here we aimed to explore these properties …