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

Journal of Biological Chemistry

Volumn 289, Issue 39, 2014, Pages 26709-26721

  Paton, Leigh ^a   Bitoun, Emmanuelle ^a   Kenyon, Janet ^a   Priestman, David A ^a   Oliver, Peter L ^a   Edwards, Benjamin ^a   Platt, Frances M ^a   Davies, Kay E ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN; CELL DEATH; ENZYMES; GENES; NEURONS; PATHOLOGY; PATIENT TREATMENT;

ENZYMATIC ACTIVITIES; HISTOLOGICAL ANALYSIS; LYSOSOMAL STORAGE DISORDER; MULTIPLE SUBSTRATES; N-ACETYLGLUCOSAMINE; NIEMANN-PICK TYPE C; PHOSPHOTRANSFERASES; PROTEIN EXPRESSIONS;

MAMMALS;

2 HYDROXYPROPYL BETA CYCLODEXTRIN; CELL PROTEIN; NIEMANN PICK TYPE C 2 PROTEIN; UNCLASSIFIED DRUG; 2-HYDROXYPROPYL-BETA-CYCLODEXTRIN; BETA CYCLODEXTRIN DERIVATIVE; CARRIER PROTEIN; EXCIPIENT; GLYCOPROTEIN; GNPTAB PROTEIN, HUMAN; GNPTAB PROTEIN, MOUSE; NPC2 PROTEIN, HUMAN; NPC2 PROTEIN, MOUSE; PHOSPHOTRANSFERASE; VESICULAR TRANSPORT PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATAXIA; CELL LOSS; CEREBELLUM DEGENERATION; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; FACE MALFORMATION; GENE; GENE INACTIVATION; GENE MUTATION; GNPTAB GENE; GROWTH RETARDATION; HISTOPATHOLOGY; HOMOZYGOTE; LIFESPAN; MOLECULAR PATHOLOGY; MOTOR DYSFUNCTION; MOUSE; MUCOLIPIDOSIS TYPE 2; NERVE DEGENERATION; NEUROPATHOLOGY; NONHUMAN; PROTEIN DEPLETION; PROTEIN EXPRESSION; PSYCHOMOTOR RETARDATION; PURKINJE CELL; SKELETON MALFORMATION; ANIMAL; ANIMAL BEHAVIOR; BAGG ALBINO MOUSE; DISEASE MODEL; ENZYMOLOGY; GENETICS; HEK293 CELL LINE; HUMAN; METABOLISM; MUCOLIPIDOSIS; MUTANT MOUSE STRAIN; MUTATION; NIEMANN PICK DISEASE; PATHOLOGY;

ANIMALS; BEHAVIOR, ANIMAL; BETA-CYCLODEXTRINS; CARRIER PROTEINS; DISEASE MODELS, ANIMAL; EXCIPIENTS; GLYCOPROTEINS; HEK293 CELLS; HOMOZYGOTE; HUMANS; MICE; MICE, INBRED BALB C; MICE, MUTANT STRAINS; MUCOLIPIDOSES; MUTATION; NIEMANN-PICK DISEASE, TYPE C; PURKINJE CELLS; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS); VESICULAR TRANSPORT PROTEINS;

EID: 84907588568     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M114.586156     Document Type: Article

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