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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...
Source: mix.com
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