... individual Drosophila knock-in mutants that include nine hereditary VCP disease mutations. Our models display many hallmarks of VCP-mediated degeneration, including progressive decline in mobility, protein aggregate accumulation and defects in lysosomal and mitochondrial function. We also made some novel...

... discoideum and showed that this interaction is conserved between the human homologs VPS13A and RAB7A in HeLa cells. As RAB7A is a key player in endosome trafficking, we addressed the possible function of VPS13A in endosome dynamics and lysosome degradation. Our results suggest that the decrease in autophagy...

... disorder. TPP1 is a lysosomal serine protease, which removes tripeptides from the N-terminus of proteins and is composed of an N-terminal prodomain and a catalytic domain. It is conserved in mammals, amphibians, fish and the amoeba Dictyostelium discoideum. D. discoideum harbors at least six genes encoding...

...Julia Sellin; Heike Schulze; Marie Paradis; Dominic Gosejacob; Cyrus Papan; Andrej Shevchenko; Olympia Ekaterina Psathaki; Achim Paululat; Melanie Thielisch; Konrad Sandhoff; Michael Hoch ABSTRACT Sphingolipidoses are inherited diseases belonging to the class of lysosomal storage diseases (LSDs...