Synaptopathology involved in autism spectrum disorder

S Guang, N Pang, X Deng, L Yang, F He… - Frontiers in cellular …, 2018 - frontiersin.org
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …

Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex

CL Salussolia, K Klonowska… - Annual Review of …, 2019 - annualreviews.org
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the …

Genetically engineered human cortical spheroid models of tuberous sclerosis

JD Blair, D Hockemeyer, HS Bateup - Nature medicine, 2018 - nature.com
Tuberous sclerosis complex (TSC) is a multisystem developmental disorder caused by
mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of …

Onset of differentiation is post-transcriptionally controlled in adult neural stem cells

A Baser, M Skabkin, S Kleber, Y Dang… - Nature, 2019 - nature.com
Whether post-transcriptional regulation of gene expression controls differentiation of stem
cells for tissue renewal remains unknown. Quiescent stem cells exhibit a low level of protein …

Impaired mitochondrial dynamics and mitophagy in neuronal models of tuberous sclerosis complex

D Ebrahimi-Fakhari, A Saffari, L Wahlster, A Di Nardo… - Cell reports, 2016 - cell.com
Tuberous sclerosis complex (TSC) is a neurodevelopmental disease caused by TSC1 or
TSC2 mutations and subsequent activation of the mTORC1 kinase. Upon mTORC1 …

[HTML][HTML] Current approaches and future directions for the treatment of mTORopathies

V Karalis, HS Bateup - Developmental neuroscience, 2021 - karger.com
The mechanistic target of rapamycin (mTOR) is a kinase at the center of an evolutionarily
conserved signaling pathway that orchestrates cell growth and metabolism. mTOR responds …

Increased G3BP2-Tau interaction in tauopathies is a natural defense against Tau aggregation

C Wang, M Terrigno, J Li, T Distler, NJ Pandya… - Neuron, 2023 - cell.com
Many RNA-binding proteins (RBPs), particularly those associated with RNA granules,
promote pathological protein aggregation in neurodegenerative diseases. Here, we …

Cellular phenotypes in human iPSC-derived neurons from a genetic model of autism spectrum disorder

A Deshpande, S Yadav, DQ Dao, ZY Wu… - Cell reports, 2017 - cell.com
A deletion or duplication in the 16p11. 2 region is associated with neurodevelopmental
disorders, including autism spectrum disorder and schizophrenia. In addition to clinical …

16p11. 2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

M Sundberg, H Pinson, RS Smith, KD Winden… - Nature …, 2021 - nature.com
Reciprocal copy number variations (CNVs) of 16p11. 2 are associated with a wide spectrum
of neuropsychiatric and neurodevelopmental disorders. Here, we use human induced …

Biallelic mutations in TSC2 lead to abnormalities associated with cortical tubers in human iPSC-derived neurons

KD Winden, M Sundberg, C Yang… - Journal of …, 2019 - Soc Neuroscience
Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in TSC1 or
TSC2. Patients frequently have epilepsy, autism spectrum disorder, and/or intellectual …