A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.

Paton, Leigh

A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology. [electronic resource] - The Journal of biological chemistry Sep 2014 - 26709-26721 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1083-351X

10.1074/jbc.M114.586156 doi


2-Hydroxypropyl-beta-cyclodextrin
Animals
Behavior, Animal
Carrier Proteins--genetics
Disease Models, Animal
Excipients--pharmacology
Glycoproteins--genetics
HEK293 Cells
Homozygote
Humans
Mice
Mice, Inbred BALB C
Mice, Mutant Strains
Mucolipidoses--enzymology
Mutation
Niemann-Pick Disease, Type C--enzymology
Purkinje Cells--enzymology
Transferases (Other Substituted Phosphate Groups)--genetics
Vesicular Transport Proteins--genetics
beta-Cyclodextrins--pharmacology