A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system

American Journal of Human Genetics

Volumn 91, Issue 1, 2012, Pages 202-208

  Staropoli, John F ^a   Karaa, Amel ^a   Lim, Elaine T ^a   Kirby, Andrew ^a,b   Elbalalesy, Naser ^c   Romansky, Stephen G ^d   Leydiker, Karen B ^c   Coppel, Scott H ^a   Barone, Rosemary ^a   Xin, Winnie ^a   MacDonald, Marcy E ^a   Abdenur, Jose E ^c   Daly, Mark J ^a,b   Sims, Katherine B ^a   Cotman, Susan L ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^c CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^d MILLER CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CULLIN; CYTOSINE; DNA; POTASSIUM CHANNEL; PROTEASOME; THYMINE; UBIQUITIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN CELL; CEREBELLUM; COGNITION; CONTROLLED STUDY; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; INFANT; LYSOSOME STORAGE DISEASE; MALE; MEXICO; MISSENSE MUTATION; MOUSE; MYOCLONUS EPILEPSY; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; POTASSIUM CHANNEL TETRAMERIZATION DOMAIN CONTAINING PROTEIN 7 GENE; PREDICTION; PRIORITY JOURNAL; PROTEIN INTERACTION; PROTEIN LOCALIZATION; SAMPLE; VISUAL IMPAIRMENT;

ANIMALS; CHILD, PRESCHOOL; FEMALE; HEK293 CELLS; HUMANS; INFANT; MALE; MICE; MICE, INBRED C57BL; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PEDIGREE; POTASSIUM CHANNELS; PROTEASOME ENDOPEPTIDASE COMPLEX; UBIQUITIN;

MURINAE;

EID: 84863985738     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.05.023     Document Type: Article

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