[HTML][HTML] Tuberous sclerosis: a new frontier in targeted treatment of autism

PE Davis, JM Peters, DA Krueger, M Sahin - Neurotherapeutics, 2015 - Elsevier
Tuberous sclerosis complex (TSC) is a genetic disorder with a high prevalence of autism
spectrum disorder (ASD). Tremendous progress in understanding the pathogenesis of TSC …

Targeted treatment trials for tuberous sclerosis and autism: no longer a dream

M Sahin - Current opinion in neurobiology, 2012 - Elsevier
Genetic disorders that present with a high incidence of autism spectrum disorders (ASD)
offer tremendous potential both for elucidating the underlying neurobiology of ASD and …

Mechanism-based treatment in tuberous sclerosis complex

K Jülich, M Sahin - Pediatric neurology, 2014 - Elsevier
Background Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that affects
the brain in almost every patient. It is caused by a mutation in the TSC1 or TSC2 genes …

The role of TSC1 and TSC2 proteins in neuronal axons

V Karalis, D Wood, NA Teaney, M Sahin - Molecular Psychiatry, 2024 - nature.com
Abstract Tuberous Sclerosis Complex 1 and 2 proteins, TSC1 and TSC2 respectively,
participate in a multiprotein complex with a crucial role for the proper development and …

Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders

D Ehninger, AJ Silva - Trends in molecular medicine, 2011 - cell.com
Tuberous sclerosis (TSC) is a genetic disorder caused by heterozygous mutations in the
TSC1 or TSC2 genes and is associated with autism spectrum disorders (ASD) in 20–60% of …

The tuberous sclerosis complex

KA Orlova, PB Crino - Annals of the New York Academy of …, 2010 - Wiley Online Library
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from
mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in …

[HTML][HTML] Neuron-glia interactions increase neuronal phenotypes in tuberous sclerosis complex patient iPSC-derived models

AG Nadadhur, M Alsaqati, L Gasparotto… - Stem Cell Reports, 2019 - cell.com
Tuberous sclerosis complex (TSC) is a rare neurodevelopmental disorder resulting from
autosomal dominant mutations in the TSC1 or TSC2 genes, leading to a hyperactivated …

[HTML][HTML] Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation

M Alsaqati, VM Heine, AJ Harwood - Molecular autism, 2020 - Springer
Background Tuberous sclerosis complex (TSC) is a rare genetic multisystemic disorder
resulting from autosomal dominant mutations in the TSC1 or TSC2 genes. It is characterised …

[HTML][HTML] Potential for treatment of severe autism in tuberous sclerosis complex

TT Gipson, G Gerner, MA Wilson, ME Blue… - World journal of …, 2013 - ncbi.nlm.nih.gov
Abstract The Food and Drug Administration (FDA) has approved two mechanism-based
treatments for tuberous sclerosis complex (TSC)-everolimus and vigabatrin. However, these …

From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis

D Ehninger, PJ De Vries, AJ Silva - Journal of Intellectual …, 2009 - Wiley Online Library
Background Tuberous sclerosis (TSC) is a multisystem disorder caused by heterozygous
mutations in the TSC1 or TSC2 gene and is often associated with neuropsychiatric …