Ontology highlight
ABSTRACT:
SUBMITTER: Gorski K
PROVIDER: S-EPMC10213208 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Gorski Katarin K Jackson Christopher B CB Nyman Tuula A TA Rezov Veronika V Battersby Brendan J BJ Lehesjoki Anna-Elina AE
Frontiers in molecular neuroscience 20230512
The involvement of mitochondrial dysfunction in cystatin B (CSTB) deficiency has been suggested, but its role in the onset of neurodegeneration, myoclonus, and ataxia in the CSTB-deficient mouse model (<i>Cstb<sup>-/-</sup></i>) is yet unknown. CSTB is an inhibitor of lysosomal and nuclear cysteine cathepsins. In humans, partial loss-of-function mutations cause the progressive myoclonus epilepsy neurodegenerative disorder, EPM1. Here we applied proteome analysis and respirometry on cerebellar sy ...[more]