Don J. Mahuran

TL;DR: Mice deficient in prosaposin, the precursor to a family of endosomal lipid transfer proteins (LTP), exhibit specific defects in CD1d-mediated antigen presentation and lack Vα14 NKT cells, which constitute a previously unknown link between lipid metabolism and immunity.

TL;DR: It is shown that significant amounts of mature nicastrin, presenilin-1, and APP are co-localized with lysosomal associated membrane protein-1 (cAMP-1) in the outer membranes of lYSosomes and that γ-secretase is a lysOSomal protease.

TL;DR: Ambroxol (ABX), a drug used to treat airway mucus hypersecretion and hyaline membrane disease in newborns, was identified and found to be a pH-dependent, mixed-type inhibitor of GCase, and modeling studies indicated that ABX interacts with both active and non-active site residues.

TL;DR: In this article, the crystal structure of human Hex B, alone and in complex with the mechanistic inhibitors GalNAc-isofagomine (2.4A) and NAG-thiazoline(2.5A) was presented.

TL;DR: It is proposed that hexosaminidase inhibitors function as pharmacological chaperones, enhancing the stability of the native conformation of the enzyme, increasing the amount of hexosaminaidase A capable of exiting the endoplasmic reticulum for transport to the lysosome, and could provide a novel approach to the treatment of adult Tay-Sachs and possibly Sandhoff diseases.