The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3

DMM Disease Models and Mechanisms

Volumn 2, Issue 1-2, 2009, Pages 84-92

  Haines, Rebecca L ^a   Codlin, Sandra ^a   Mole, Sara E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BTN1P PROTEIN; CLN3 PROTEIN; FUNGAL PROTEIN; MUTANT PROTEIN; UNCLASSIFIED DRUG; BTN1 PROTEIN, S POMBE; MEMBRANE PROTEIN; SCHIZOSACCHAROMYCES POMBE PROTEIN;

ARTICLE; CELL GROWTH; CELL VACUOLE; DISEASE SEVERITY; GENE MUTATION; GENE REPRESSION; LYSOSOME STORAGE DISEASE; MICROSCOPY; MISSENSE MUTATION; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; SCHIZOSACCHAROMYCES POMBE; BIOLOGICAL MODEL; DISEASE COURSE; GENE EXPRESSION REGULATION; GENETIC MARKER; GENETIC PROCEDURES; GENETICS; HUMAN; MUTATION; PATHOPHYSIOLOGY; PROTEIN TERTIARY STRUCTURE; SCHIZOSACCHAROMYCES;

SCHIZOSACCHAROMYCES POMBE; SCHIZOSACCHAROMYCETACEAE;

DISEASE PROGRESSION; FUNGAL PROTEINS; GENE EXPRESSION REGULATION, FUNGAL; GENETIC MARKERS; GENETIC TECHNIQUES; HUMANS; LYSOSOMAL STORAGE DISEASES; MEMBRANE PROTEINS; MODELS, BIOLOGICAL; MUTATION; MUTATION, MISSENSE; NEURONAL CEROID-LIPOFUSCINOSES; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SCHIZOSACCHAROMYCES; SCHIZOSACCHAROMYCES POMBE PROTEINS;

EID: 68949210371     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.000851     Document Type: Article

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