Article

Longitudinal multi-omics reveals pathogenic <i>TSC2</i> variants disrupt developmental trajectories of human cortical organoids derived from Tuberous Sclerosis Complex

2024-10-11

Abstract excerpt

<h4>ABSTRACT</h4> Tuberous Sclerosis Complex (TSC), an autosomal dominant condition, is caused by heterozygous mutations in either the TSC1 or TSC2 genes, manifesting in systemic growth of benign tumors. In addition to brain lesions, neurologic sequelae represent the greatest morbidity in TSC patients. Investigations utilizing TSC1/2 -knockout animal or human stem cell models suggest that TSC deficiency-causin...

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Literature Corpus work: 6a95e3da-910c-5d9c-a3b3-99fc73ef750c
DOI: 10.1101/2024.10.07.617121

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