TBCK

Publications

Ortiz-González XR, et al. Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy. Ann Neurol. 2018;83:153-165. PMID: 29283439.

Chong JX, et alRecessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein, cause severe infantile syndromic encephalopathy. Am J Hum Genet 2016; 98(4):772-781. PMID: 27040692.

Bhoj EJ, et alMutations in TBCK, encoding TBC1-domain-containing kinase, lead to a recognizable syndrome of intellectual disability and hypotonia. Am J Hum Genet. 2016;98(4):782-788. PMID: 27040691.