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Article

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.

Annals of neurology - 1 Jan 2018

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

Abstract excerpt

OBJECTIVE: Autosomal-recessive mutations in TBCK cause intellectual disability of variable severity. Although the physiological function of TBCK remains unclear, loss-of-function mutations are associated with inhibition of mechanistic target of rapamycin complex 1 (mTORC1) signaling. Given that mTORC1 signaling is known to regulate autophagy, we hypothesized that TBCK-encephalopathy patients with a...

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Identifiers

PMID: 29283439
DOI: 10.1002/ana.25130
PMCID: PMC5876123

Genes

TBCK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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