title: Lysosomal Acid Phosphatase Biosynthesis and Dysfunction: A Mini Review Focused on Lysosomal Enzyme Dysfunction in Brain.
abstract: Lysosomes are membrane-bound organelles that are responsible for degrading and recycling macromolecules. Lysosomal dysfunction occurs in enzymatic and non-enzymatic deficiencies, which result in abnormal accumulation of materials. Although lysosomal storage disorders affect different organs, the central nervous system is the most vulnerable. Evidence shows the role of lysosomal dysfunction in different neurodegenerative diseases, such as Niemann-Pick Type C disease, juvenile neuronal ceroid lipofuscinosis, Alzheimer's disease and Parkinson's disease. Lysosomal enzymes such as lysosomal acid phosphatase 2 (Acp2) play a critical role in mannose-6-phosphate removal and Acp2 controls molecular and cellular functions in the brain during development and adulthood. Acp2 is essential in cerebellar development, and mutations in this gene cause severe cerebellar neurodevelopmental and neurodegenerative disorders. In this mini-review, we highlight lysosomal dysfunctions in the pathogenesis of neurodevelopmental and/or neurodegenerative diseases with special attention to Acp2 dysfunction.
authors.forename: N
authors.initials: N
authors.lastname: Ashtari
authors.forename: X
authors.initials: X
authors.lastname: Jiao
authors.forename: M
authors.initials: M
authors.lastname: Rahimi-Balaei
authors.forename: S
authors.initials: S
authors.lastname: Amiri
authors.forename: S E
authors.initials: SE
authors.lastname: Mehr
authors.forename: B
authors.initials: B
authors.lastname: Yeganeh
authors.affiliation: Department of Human Anatomy & Cell Science, Rm. 129, BMSB, 745 Bannatyne Avenue, College of Medicine, Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, R3E 0J9, Canada. Hassan.Marzban@umanitoba.ca.
authors.forename: H
authors.initials: H
authors.lastname: Marzban
mesh_terms: D000135:Acid Phosphatase / Q000378:metabolism*; D000818:Animals; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000378:metabolism / Q000473:pathology; D008247:Lysosomes / Q000378:metabolism*; D019636:Neurodegenerative Diseases / Q000378:metabolism / Q000473:pathology
chemical_list: D000135:Acid Phosphatase