Monther Abu-Remaileh identified the function of CLN3, the protein deficient in the lysosomal storage disease Batten’s Disease. #BAAM
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It’s a membrane transporter for the products of breakdown of the phospholipids in the cell membrane; without the transporter, you get aggregate buildup of these lipid fragments. Discovered by comparing the metabolome inside and outside the lysosome, in mutant & normal samples.
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Again, methods matter! A new method of isolating whole lysosomes (by “immunoprecipitation”, tagging a surface marker of the organelle & precipitating then out) made this discovery possible.
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not all are (widely) neurodegenerative, interesting how the different types of mucopolysaccharidosis (MPS) affect different systems at different rates, depending on the accumulated product
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https://clinicaltrials.gov/ct2/show/NCT03370653 … this drug seems super interesting for MPS, it's still in clinical trials
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