CTNNA3 discordant regulation of nested LRRTM3, implications for autism spectrum disorder and Tourette syndrome

Z Fang, V Eapen, RA Clarke - Meta Gene, 2017 - Elsevier
Abstract Autism Spectrum Disorder (ASD) and Tourette syndrome (TS) are poorly
understood neurodevelopment disorders with strong male bias, high heritability and …

LRRTM4 Terminal Exon Duplicated in Family with Tourette Syndrome, Autism and ADHD

RA Clarke, V Eapen - Genes, 2021 - mdpi.com
Tourette syndrome (TS) is a neurodevelopmental disorder characterised by motor and vocal
tics and strong association with autistic deficits, obsessive–compulsive disorder (OCD) and …

Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism

RA Clarke, S Lee, V Eapen - Translational psychiatry, 2012 - nature.com
Tourette syndrome (TS) is a highly heritable neuropsychiatric disorder characterised by
motor and vocal tics. Despite decades of research, the aetiology of TS has remained elusive …

Autism spectrum disorders: from genotypes to phenotypes

V Eapen, RA Clarke - Frontiers in human neuroscience, 2014 - frontiersin.org
Autism spectrum disorder (ASD) is appropriately named due to the broad variability or
clinical heterogeneity, which in turn is linked to genetic heterogeneity. Such clinical …

Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome

AY Huang, D Yu, LK Davis, JH Sul, F Tsetsos… - Neuron, 2017 - cell.com
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal
development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly …

Reversal of memory and autism-related phenotypes in Tsc2 +/− mice via inhibition of Nlgn1

K Chalkiadaki, E Statoulla, M Zafeiri, N Haji… - Frontiers in Cell and …, 2023 - frontiersin.org
Tuberous sclerosis complex (TSC) is a rare monogenic disorder co-diagnosed with high
rates of autism and is caused by loss of function mutations in the TSC1 or TSC2 genes. A …

Advances in neurexin studies and the emerging role of neurexin-2 in autism spectrum disorder

S Khoja, MT Haile, LY Chen - Frontiers in molecular neuroscience, 2023 - frontiersin.org
Over the past 3 decades, the prevalence of autism spectrum disorder (ASD) has increased
globally from 20 to 28 million cases making ASD the fastest-growing developmental …

Investigation of SNP rs2060546 Immediately Upstream to NTN4 in a Danish Gilles de la Tourette Syndrome Cohort

SS Padmanabhuni, R Houssari, AL Esserlind… - Frontiers in …, 2016 - frontiersin.org
Gilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder characterized by
multiple motor and vocal tics. GTS is a complex disorder, with environmental factors and …

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

S Bahl, C Chiang, RL Beauchamp, BM Neale, MJ Daly… - Molecular Autism, 2013 - Springer
Background Autism spectrum disorder (ASD) is reported in 30 to 60% of patients with
tuberous sclerosis complex (TSC) but shared genetic mechanisms that exist between TSC …

Bidirectional transcription from human LRRTM2/CTNNA1 and LRRTM1/CTNNA2 gene loci leads to expression of N-terminally truncated CTNNA1 and CTNNA2 …

M Kask, P Pruunsild, T Timmusk - Biochemical and biophysical research …, 2011 - Elsevier
α-Catenins (CTNNAs) are essential for the regulation of cell–cell and cell–matrix interactions
in tissues. All human CTNNA genes contain antisense oriented leucine rich repeat …