title: Lysosomal Proteins as a Therapeutic Target in Neurodegeneration.
abstract: Several proteins that are mutated in lysosomal storage diseases are linked to neurodegenerative disease. This review focuses on some of these lysosomal enzymes and transporters, as well as current therapies that have emerged from the lysosomal storage disease field. Given the deeper genetic understanding of lysosomal defects in neurodegeneration, we explore why some of these orphan disease drug candidates are also attractive targets in subpopulations of individuals with neurodegenerative disease.
authors.affiliation: Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611-4296; email: jessica.mcdonald@northwestern.edu , krainc@northwestern.edu.
authors.forename: Jessica M
authors.initials: JM
authors.lastname: Mc Donald
authors.affiliation: Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611-4296; email: jessica.mcdonald@northwestern.edu , krainc@northwestern.edu.
authors.forename: Dimitri
authors.initials: D
authors.lastname: Krainc
mesh_terms: D000118:Acetylglucosaminidase / Q000235:genetics; D058227:Amyloidogenic Proteins / Q000378:metabolism; D001343:Autophagy; D002352:Carrier Proteins / Q000235:genetics; D004705:Endocytosis; D005962:Glucosylceramidase / Q000235:genetics; D054818:Hexosaminidase A / Q000235:genetics; D054819:Hexosaminidase B / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D016464:Lysosomal Storage Diseases / Q000150:complications / Q000188:drug therapy* / Q000235:genetics* / Q000378:metabolism; D008247:Lysosomes / Q000201:enzymology*; D008562:Membrane Glycoproteins / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000235:genetics*; D000077296:Niemann-Pick C1 Protein; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D006180:Proton-Translocating ATPases / Q000235:genetics; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics
chemical_list: C514983:ATP13A2 protein, human; D058227:Amyloidogenic Proteins; D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein; D011506:Proteins; C018589:lysosomal proteins; C543066:SMPD1 protein, human; D013108:Sphingomyelin Phosphodiesterase; D005962:Glucosylceramidase; C033079:alpha-N-acetyl-D-glucosaminidase; D000118:Acetylglucosaminidase; D054818:Hexosaminidase A; D054819:Hexosaminidase B; D006180:Proton-Translocating ATPases
keywords: Parkinson's disease; lysosomal storage disease; neurodegenerative disease; neurodegenerative drug candidates