Mouse models of neuronal ceroid lipofuscinoses: Useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics

Highlights ► A comprehensive review is provided: the current status of mouse models of NCL. ► The initial genetic classification and pathophysiology are provided for mouse models of NCL that have human mutation correlates. ► The known function of proteins mutated in mouse models of NCL is presented....

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Bibliographic Details
Published inBrain research bulletin Vol. 88; no. 1; pp. 43 - 57
Main Author Shacka, John J
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.05.2012
Subjects
Age
Animal models
Animals
Apoptosis
Autophagy
Cathepsin D
Disease Models, Animal
Enzymes
Humans
Lysosome
Lysosomes
Mice
Mice, Neurologic Mutants
NCL
Neurodegenerative diseases
Neurology
Neuronal ceroid lipofuscinosis
Neuronal Ceroid-Lipofuscinoses - genetics
Neuronal Ceroid-Lipofuscinoses - physiopathology
Palmitoyl-(protein) hydrolase
Pediatrics
peptidase
Point mutation
Structural proteins
Therapeutic
Therapeutic
Cathepsin D
Autophagy
NCL
Lysosome
Apoptosis
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Summary:Highlights ► A comprehensive review is provided: the current status of mouse models of NCL. ► The initial genetic classification and pathophysiology are provided for mouse models of NCL that have human mutation correlates. ► The known function of proteins mutated in mouse models of NCL is presented. ► The use of NCL mouse models for pre-clinical testing of therapeutics is also highlighted.
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ISSN:0361-9230
1873-2747
DOI:10.1016/j.brainresbull.2012.03.003