The GABAergic hypothesis for cognitive disabilities in down syndrome

A Contestabile, S Magara, L Cancedda - Frontiers in cellular …, 2017 - frontiersin.org
Down syndrome (DS) is a genetic disorder caused by the presence of a third copy of
chromosome 21. DS affects multiple organs, but it invariably results in altered brain …

Translational validity and implications of pharmacotherapies in preclinical models of Down syndrome

N Rueda, J Flórez, M Dierssen… - Progress in Brain Research, 2020 - Elsevier
Neurodevelopmental disorders are challenging to study in the laboratory, and despite a
large investment, few novel treatments have been developed in the last decade. While …

Evidence that increased Kcnj6 gene dose is necessary for deficits in behavior and dentate gyrus synaptic plasticity in the Ts65Dn mouse model of Down syndrome

AM Kleschevnikov, J Yu, J Kim, LV Lysenko… - Neurobiology of …, 2017 - Elsevier
Abstract Down syndrome (DS), trisomy 21, is caused by increased dose of genes present on
human chromosome 21 (HSA21). The gene-dose hypothesis argues that a change in the …

Unbalanced dendritic inhibition of CA1 neurons drives spatial-memory deficits in the Ts2Cje Down syndrome model

S Valbuena, Á García, W Mazier, AV Paternain… - Nature …, 2019 - nature.com
Overinhibition is assumed one of the main causes of cognitive deficits (eg memory
impairment) in mouse models of Down syndrome (DS). Yet the mechanisms that drive such …

Neuroanatomical alterations in higher-order thalamic nuclei of fetuses with Down syndrome

F Stagni, A Giacomini, M Emili, B Uguagliati… - Clinical Neurology and …, 2020 - Elsevier
Objectives Down syndrome (DS) is a genetic condition characterized by cognitive disability
starting from infancy. Children with DS exhibit deficits in several cognitive domains …

Challenges and opportunities for translation of therapies to improve cognition in Down syndrome

SE Lee, M Duran-Martinez, S Khantsis… - Trends in molecular …, 2020 - cell.com
While preclinical studies have reported improvement of behavioral deficits in the Ts65Dn
mouse model of Down syndrome (DS), translation to human clinical trials to improve …

Brain circuit pathology in Down syndrome: from neurons to neural networks

R Bartesaghi - Reviews in the Neurosciences, 2023 - degruyter.com
Down syndrome (DS), a genetic pathology caused by triplication of chromosome 21, is
characterized by brain hypotrophy and impairment of cognition starting from infancy. While …

A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome

SE Hurst, E Liktor-Busa, A Moutal, S Parker… - Neuronal …, 2018 - portlandpress.com
We investigated the genome of a 5-year-old male who presented with global developmental
delay (motor, cognitive, and speech), hypotonia, possibly ataxia, and cerebellar hypoplasia …

Enhanced GIRK2 channel signaling in Down syndrome: A feasible role in the development of abnormal nascent neural circuits

AM Kleschevnikov - Frontiers in Genetics, 2022 - frontiersin.org
The most distinctive feature of Down syndrome (DS) is moderate to severe cognitive
impairment. Genetic, molecular, and neuronal mechanisms of this complex DS phenotype …

Glucagon-like peptide-1 cleavage product improves cognitive function in a mouse model of Down syndrome

SM Day, W Yang, X Wang, JE Stern, X Zhou… - eneuro, 2019 - eneuro.org
Currently there is no effective therapy available for cognitive impairments in Down syndrome
(DS), one of the most prevalent forms of intellectual disability in humans associated with the …