TY  - GEN
AU  - Paton,Leigh
AU  - Bitoun,Emmanuelle
AU  - Kenyon,Janet
AU  - Priestman,David A
AU  - Oliver,Peter L
AU  - Edwards,Benjamin
AU  - Platt,Frances M
AU  - Davies,Kay E
TI  - A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology
SN  - 1083-351X
PY  - 2014///1211
KW  - 2-Hydroxypropyl-beta-cyclodextrin
KW  - Animals
KW  - Behavior, Animal
KW  - Carrier Proteins
KW  - genetics
KW  - Disease Models, Animal
KW  - Excipients
KW  - pharmacology
KW  - Glycoproteins
KW  - HEK293 Cells
KW  - Homozygote
KW  - Humans
KW  - Mice
KW  - Mice, Inbred BALB C
KW  - Mice, Mutant Strains
KW  - Mucolipidoses
KW  - enzymology
KW  - Mutation
KW  - Niemann-Pick Disease, Type C
KW  - Purkinje Cells
KW  - Transferases (Other Substituted Phosphate Groups)
KW  - Vesicular Transport Proteins
KW  - beta-Cyclodextrins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1074/jbc.M114.586156
ER  -