A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome(OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

Human Mutation

Volumn 30, Issue 4, 2009, Pages 641-648

  Chung, Boi Dinh ^a   Kayserili, Hülya ^b   Ai, Minrong ^c   Freudenberg, Jan ^d   Üzümcü, Abdullah ^b   Uyguner, Oya ^b   Bartels, Cynthia F ^c   Höning, Stefan ^a   Ramirez, Alfredo ^a   Hanisch, Franz Georg ^a   Nürnberg, Gudrun ^e   Nürnberg, Peter ^a,e   Warman, Matthew L ^c,f   Wollnik, Bernd ^a,b   Kubisch, Christian ^a   Netzer, Christian ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b ISTANBUL UNIVERSITY   (Turkey)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^e UNIVERSITY OF COLOGNE   (Germany)

^f BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

LRP5; Osteoporosis pseudoglioma syndrome; Protein translation; Signal peptide; Trinucleotide repeat

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; SIGNAL PEPTIDE;

ALU SEQUENCE; ARTICLE; BLINDNESS; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; ENDOPLASMIC RETICULUM; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MAPPING; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC RECOMBINATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; HUMAN GENOME; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS; OSTEOPOROSIS PSEUDOGLIOMA SYNDROME; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING; PROTEIN TRANSPORT; RNA TRANSLATION; SIGNAL TRANSDUCTION; TRINUCLEOTIDE REPEAT;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, WESTERN; CELL LINE; EYE DISEASES; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; LDL-RECEPTOR RELATED PROTEINS; LEUCINE; LUCIFERASES; MALE; MUTATION; OSTEOPOROSIS; PEDIGREE; PROTEIN SORTING SIGNALS; RECOMBINANT FUSION PROTEINS; SYNDROME; TRINUCLEOTIDE REPEATS; TURKEY;

EID: 63749085796     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20916     Document Type: Article

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