Lysosomal dysfunction impairs mitochondrial quality control and predicts neurodegeneration in TBCKE getmixapp
Lysosomal dysfunction impairs mitochondrial quality control and predicts neurodegeneration in TBCKE getmixapp
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...
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