N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV

Mucolipidosis type IV (MLIV) is a lysosomal storage disease exhibiting progressive intellectual disability, motor impairment, and premature death. There is currently no cure or corrective treatment. The disease results from mutations in the gene encoding mucolipin-1, a transient receptor potential c...

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Bibliographic Details
Main Authors: Lauren C. Boudewyn, Jakub Sikora, Ladislav Kuchar, Jana Ledvinova, Yulia Grishchuk, Shirley L. Wang, Kostantin Dobrenis, Steven U. Walkley
Format: Article
Language:English
Published: Elsevier 2017-09-01
Series:Neurobiology of Disease
Subjects:
Mucolipidosis type IV
Miglustat
Lysosomal storage disease
Small molecule therapy
Mucolipin-1
Purkinje cells
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996117301304

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http://www.sciencedirect.com/science/article/pii/S0969996117301304

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