[HTML][HTML] Astrocytes in human central nervous system diseases: a frontier for new therapies

A Verkhratsky, A Butt, B Li, P Illes, R Zorec… - … and Targeted Therapy, 2023 - nature.com
Astroglia are a broad class of neural parenchymal cells primarily dedicated to homoeostasis
and defence of the central nervous system (CNS). Astroglia contribute to the …

Short-and long-term effects of chromosome mis-segregation and aneuploidy

S Santaguida, A Amon - Nature reviews Molecular cell biology, 2015 - nature.com
Dividing cells that experience chromosome mis-segregation generate aneuploid daughter
cells, which contain an incorrect number of chromosomes. Although aneuploidy interferes …

Emerging connections between cerebellar development, behaviour and complex brain disorders

A Sathyanesan, J Zhou, J Scafidi, DH Heck… - Nature Reviews …, 2019 - nature.com
The human cerebellum has a protracted developmental timeline compared with the
neocortex, expanding the window of vulnerability to neurological disorders. As the …

Down syndrome and the complexity of genome dosage imbalance

SE Antonarakis - Nature Reviews Genetics, 2017 - nature.com
Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic
gain dosage imbalances, including microduplications. The functional genomic exploration of …

[HTML][HTML] Trisomy 21 consistently activates the interferon response

KD Sullivan, HC Lewis, AA Hill, A Pandey, LP Jackson… - Elife, 2016 - elifesciences.org
Although it is clear that trisomy 21 causes Down syndrome, the molecular events acting
downstream of the trisomy remain ill defined. Using complementary genomics analyses, we …

Sensitive and critical periods during neurotypical and aberrant neurodevelopment: a framework for neurodevelopmental disorders

RM Meredith - Neuroscience & Biobehavioral Reviews, 2015 - Elsevier
During sensitive and critical periods, the brain undergoes significant plasticity from the level
of individual synapses and neuronal networks up to the level of behaviour. Both sensitive …

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 …

[HTML][HTML] 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 …

[HTML][HTML] Timing of therapies for Down syndrome: the sooner, the better

F Stagni, A Giacomini, S Guidi, E Ciani… - Frontiers in behavioral …, 2015 - frontiersin.org
Intellectual disability (ID) is the unavoidable hallmark of Down syndrome (DS), with a heavy
impact on public health. Accumulating evidence shows that DS is characterized by …

Rodent models in Down syndrome research: impact and future opportunities

Y Herault, JM Delabar, EMC Fisher… - Disease models & …, 2017 - journals.biologists.com
Down syndrome is caused by trisomy of chromosome 21. To date, a multiplicity of mouse
models with Down-syndrome-related features has been developed to understand this …