Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease

Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease

Mutations in the major facilitator superfamily domain containing 8 (MFSD8) gene coding for the lysosomal CLN7 membrane protein result in CLN7 disease, a lysosomal storage disease of childhood. CLN7 disease belongs to a group of inherited disorders, called neuronal ceroid lipofuscinoses (NCL), which...

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Bibliographic Details
Main Authors: Markus Damme, Laura Brandenstein, Susanne Fehr, Wanda Jankowiak, Udo Bartsch, Michaela Schweizer, Irm Hermans-Borgmeyer, Stephan Storch
Format: Article
Language:English
Published: Elsevier 2014-05-01
Series:Neurobiology of Disease
Subjects:
Neuronal ceroid lipofuscinosis
NCL
CLN7 disease
Lysosomal storage disease
CLN7/MFSD8
Lysosomes
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996114000102

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http://www.sciencedirect.com/science/article/pii/S0969996114000102

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