Article

Lysosomal dysfunction impairs mitochondrial quality control and predicts neurodegeneration in TBCKE

2020-05-27

Abstract excerpt

Biallelic variants in TBC1-domain containing kinase ( TBCK ) cause intellectual disability in children. It remains unclear how variants in TBCK lead to a neurodevelopmental disorder and what biological factors modulate the variability of clinical severity. Previous studies showed increased autophagosomes in patients sharing the truncating (p.R126X) Boricua homozygous TBCK variant, who exhibit a severe and progr...

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Literature Corpus work: 7f1c8f36-52ed-5a25-8e53-00ffdcb3daad
DOI: 10.1101/2020.05.25.114306

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