Associated Papers
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
De Pace R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The endo-lysosomal regulatory protein BLOC1S1 modulates hepatic lysosomal content and lysosomal lipolysis.
Wu K et al.
Biochemical and Biophysical Research Communications, 2023
Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations.
Wu K et al.
Stem Cell Research, 2022
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