Roles of eukaryotic topoisomerases in transcription, replication and genomic stability

Y Pommier, Y Sun, SN Huang, JL Nitiss - Nature reviews Molecular cell …, 2016 - nature.com
Topoisomerases introduce transient DNA breaks to relax supercoiled DNA, remove
catenanes and enable chromosome segregation. Human cells encode six topoisomerases …

Excitatory/inhibitory balance and circuit homeostasis in autism spectrum disorders

SB Nelson, V Valakh - Neuron, 2015 - cell.com
Autism spectrum disorders (ASDs) and related neurological disorders are associated with
mutations in many genes affecting the ratio between neuronal excitation and inhibition …

The powerful world of antisense oligonucleotides: From bench to bedside

AM Quemener, L Bachelot, A Forestier… - Wiley …, 2020 - Wiley Online Library
Antisense oligonucleotides (ASOs) represent a new and highly promising class of drugs for
personalized medicine. In the last decade, major chemical developments and improvements …

Fundamental elements in autism: from neurogenesis and neurite growth to synaptic plasticity

J Gilbert, HY Man - Frontiers in cellular neuroscience, 2017 - frontiersin.org
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders with a high
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …

The role of genomic imprinting in biology and disease: an expanding view

J Peters - Nature Reviews Genetics, 2014 - nature.com
Genomic imprinting is an epigenetic phenomenon that results in monoallelic gene
expression according to parental origin. It has long been established that imprinted genes …

Dendritic spines: the locus of structural and functional plasticity

C Sala, M Segal - Physiological reviews, 2014 - journals.physiology.org
The introduction of high-resolution time lapse imaging and molecular biological tools has
changed dramatically the rate of progress towards the understanding of the complex …

Mechanisms of dopamine transporter regulation in normal and disease states

RA Vaughan, JD Foster - Trends in pharmacological sciences, 2013 - cell.com
The dopamine (DA) transporter (DAT) controls the spatial and temporal dynamics of DA
neurotransmission by driving reuptake of extracellular transmitter into presynaptic neurons …

People with intellectual disability: what do we know about adulthood and life expectancy?

AMW Coppus - Developmental disabilities research reviews, 2013 - Wiley Online Library
Increases in the life expectancy of people with Intellectual Disability have followed similar
trends to those found in the general population. With the exception of people with severe …

Topoisomerases facilitate transcription of long genes linked to autism

IF King, CN Yandava, AM Mabb, JS Hsiao, HS Huang… - Nature, 2013 - nature.com
Topoisomerases are expressed throughout the developing and adult brain and are mutated
in some individuals with autism spectrum disorder (ASD). However, how topoisomerases …

Gene× Environment interactions in autism spectrum disorders: role of epigenetic mechanisms

S Tordjman, E Somogyi, N Coulon, S Kermarrec… - Frontiers in …, 2014 - frontiersin.org
Several studies support currently the hypothesis that autism etiology is based on a polygenic
and epistatic model. However, despite advances in epidemiological, molecular and clinical …