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Progressive myoclonus epilepsy EPM1 is a rare neurodegenerative disorder resulting from the partial loss of function of cystatin B (CSTB), a cysteine protease inhibitor with neuroprotective roles. The disease's mechanisms are not fully understood, and no treatments exist to manage the severe myoclon...
ORGANISM(S): Mus musculus (Mouse) 
2026-04-27 | PXD068278 | Pride
The activated fibroblast is the central effector cell for the progressive fibrotic process that characterizes idiopathic pulmonary fibrosis (IPF). An understanding of the genomic phenotype of this cell in isolation is essential to the understanding of disease pathogenesis and is integral to strategi...
ORGANISM(S): Homo sapiens 
The mitochondrial respiratory chain (MRC) enzymes associate in supercomplexes (SC). This structural interdependency may explain why defects in a single component often produce combined enzyme deficiencies in patients. A point in case is the alleged destabilization of complex I in the absence of com...
ORGANISM(S): Homo sapiens (Human) 
2020-01-07 | PXD016521 | Pride
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