Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state

Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state

Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant cancer predisposition disorder caused by heterozygous mutations in TSC1 or TSC2 genes and characterized by mTORC1 hyperactivation. TSC-associated tumors develop after loss of heterozygosity mutations and their treatment involves the...

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Bibliographic Details
Main Authors: Clévia Rosset, Mariane da Cunha Jaeger, Eduardo Filippi-Chiela, Larissa Brussa Reis, Ivaine Taís Sauthier Sartor, Cristina Brinckmann Oliveira Netto, Caroline Brunetto de Farias, Rafael Roesler, Patricia Ashton-Prolla
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2021-10-01
Series:Genetics and Molecular Biology
Subjects:
Autophagy
mTOR inhibitors
neurocutaneous disorder
Rapamycin
Tuberous Sclerosis Complex
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000600701&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000600701&tlng=en

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