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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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Publicado no: | Ann Neurol |
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Main Authors: | , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2018
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Assuntos: | |
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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