Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy

OBJECTIVE: Autosomal recessive mutations in TBCK cause intellectual disability of variable severity. Although the physiologic function of TBCK remains unclear, loss-of-function mutations are associated with inhibition of mTORC1 signaling. As mTORC1 signaling is known to regulate autophagy, we hypoth...

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Detalhes bibliográficos
Publicado no:Ann Neurol
Main Authors: Ortiz-González, Xilma R, Tintos-Hernández, Jesus A, Keller, Kierstin, Li, Xueli, Foley, A. Reghan, Bharucha-Goebel, Diana X, Kessler, Sudha K, Yum, Sabrina W., Crino, Peter B., He, Miao, Wallace, Douglas C, Bönnemann, Carsten G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5876123/
https://ncbi.nlm.nih.gov/pubmed/29283439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25130
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