Associated Papers
Multiple functions of TBCK protein in neurodevelopment disorders and tumors.
Wu J et al.
Oncology Letters, 2021
Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy.
Tintos-Hernández JA et al.
Brain Communications, 2021
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
Ortiz-González XR et al.
Annals of Neurology, 2018
Mutation of TBCK causes a rare recessive developmental disorder.
Guerreiro RJ et al.
Neurology. Genetics, 2016
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Bhoj EJ et al.
American Journal of Human Genetics, 2016
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