On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa

Human Molecular Genetics

Volumn 13, Issue 6, 2004, Pages 641-650

  Aherne, Aileen ^a   Kennan, Avril ^a   Kenna, Paul F ^a,b   McNally, Niamh ^a   Lloyd, David G ^c   Alberts, Ian L ^c   Kiang, Anna Sophia ^a   Humphries, Marian M ^a   Ayuso, Carmen ^d   Engel, Paul C ^e   Gu, Jing Jin ^f   Mitchell, Beverly S ^f   Farrar, G Jane ^a   Humphries, Pete ^a  

^a TRINITY COLLEGE DUBLIN   (Ireland)

^b Dept Otolaryngol Hd Neck Surg   (Ireland)

^c De Novo Pharmaceuticals Ltd   (United Kingdom)

^d Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^e UNIVERSITY COLLEGE DUBLIN   (Ireland)

^f UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE; GUANOSINE TRIPHOSPHATE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INOSINATE DEHYDROGENASE; MUTANT PROTEIN;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BACTERIAL CELL; BIOSYNTHESIS; COMPUTER MODEL; COMPUTER SIMULATION; CONTROLLED STUDY; DISEASE SEVERITY; ELECTRORETINOGRAPHY; ENZYME ACTIVITY; FAMILIAL DISEASE; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENETIC TRANSCRIPTION; HUMAN; MAMMAL CELL; MOUSE; NERVE DEGENERATION; NONHUMAN; PATHOGENESIS; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN TARGETING; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SIGNAL TRANSDUCTION;

ANIMALS; CELLS, CULTURED; COMPUTER SIMULATION; DISEASE MODELS, ANIMAL; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ELECTRORETINOGRAPHY; ESCHERICHIA COLI; GUANINE NUCLEOTIDES; GUANOSINE TRIPHOSPHATE; HISTOLOGICAL TECHNIQUES; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; IMP DEHYDROGENASE; IN SITU HYBRIDIZATION; MICE; MICE, MUTANT STRAINS; MODELS, MOLECULAR; PROTEIN FOLDING; RETINA; RETINITIS PIGMENTOSA;

BACTERIA (MICROORGANISMS); MAMMALIA;

EID: 12144287403     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh061     Document Type: Article

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