... cell-derived RPE cells increased lysosomal abundance, impaired proteolysis and reduced the activity of a subset of lysosomal enzymes, including lysosomal acid lipase (LIPA) and acid sphingomyelinase (SMPD1). In a liver-specific Hepc ( Hamp ) knockout murine model of systemic iron overload, RPE cells...

...Molly Mepyans; Livia Andrzejczuk; Jahree Sosa; Sierra Smith; Shawn Herron; Samantha DeRosa; Susan A. Slaugenhaupt; Albert Misko; Yulia Grishchuk; Kirill Kiselyov ABSTRACT Mucolipidosis type IV (MLIV) is a lysosomal disease caused by mutations in the MCOLN1 gene that encodes the endolysosomal...

... to Str N471D . At the cellular level, Str − cells displayed defects in cell growth, phagocytosis, macropinocytosis, exocytosis and lysosomal function. Expression of Str WT -GFP in Str − cells rescued all observed defects. In contrast, expression of Str N471D -GFP could not rescue lysosome morphology...

...Yulia Grishchuk; Karina A. Peña; Jessica Coblentz; Victoria E. King; Daniel M. Humphrey; Shirley L. Wang; Kirill I. Kiselyov; Susan A. Slaugenhaupt ABSTRACT Mucolipidosis type IV (MLIV) is a lysosomal storage disease caused by mutations in the MCOLN1 gene, which encodes the lysosomal transient...

... these alleles, we show that lrrk loss-of-function causes striking defects in the endolysosomal and autophagy pathways, including the accumulation of markedly enlarged lysosomes that are laden with undigested contents, consistent with a defect in lysosomal degradation. lrrk loss-of-function also results...

... biological function. Initially described as a nuclear protein, it was later shown to be a bona fide lysosomal integral membrane protein. To gain insight into the physiological function of NCU-G1, mice with no detectable expression of this gene were created using a gene-trap strategy, and Ncu-g1 gt/gt mice...