Mutations in RAB39B cause X-linked intellectual disability and early-onset parkinson disease with α-synuclein pathology

American Journal of Human Genetics

Volumn 95, Issue 6, 2014, Pages 729-735

  Wilson, Gabrielle R ^a,b   Sim, Joe C H ^a   McLean, Catriona ^c,d   Giannandrea, Maila ^e,f   Galea, Charles A ^g   Riseley, Jessica R ^a   Stephenson, Sarah E M ^a,b   Fitzpatrick, Elizabeth ^a   Haas, Stefan A ^h   Pope, Kate ^a   Hogan, Kirk J ⁱ   Gregg, Ronald G ^j   Bromhead, Catherine J ^k   Wargowski, David S ^l   Lawrence, Christopher H ^m   James, Paul A ⁿ   Churchyard, Andrew ^o   Gao, Yujing ^a   Phelan, Dean G ^a,b   Gillies, Greta ^a   Salce, Nicholas ^a   Stanford, Lynn ^p   Marsh, Ashley P L ^a,b   Mignogna, Maria L ^e,f   Hayflick, Susan J ^p   Leventer, Richard J ^a,b,q   Delatycki, Martin B ^a,b,r   Mellick, George D ^s   Kalscheuer, Vera M ^h   D'Adamo, Patrizia ^e   Bahlo, Melanie ^b,k,t   Amor, David J ^a,b   Lockhart, Paul J ^a,b   more..

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c The Alfred   (Australia)

^d National Neuroscience Facility Australia   (Australia)

^e DULBECCO TELETHON INSTITUTE   (Italy)

^f F HOFFMANN LA ROCHE LTD   (Switzerland)

^g MONASH UNIVERSITY   (Australia)

^h MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

ⁱ UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^j University of Louisville School of Medicine   (United States)

^k WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^l UNIVERSITY OF WISCONSIN MADISON   (United States)

^m ROYAL HOBART HOSPITAL   (Australia)

ⁿ ROYAL MELBOURNE HOSPITAL   (Australia)

^o MONASH CHILDREN S HOSPITAL   (Australia)

^p OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^q ROYAL CHILDREN'S HOSPITAL   (Australia)

^r AUSTIN HEALTH   (Australia)

^s GRIFFITH UNIVERSITY   (Australia)

^t UNIVERSITY OF MELBOURNE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; GENOMIC DNA; PROTEIN; RAB PROTEIN; RAB39B PROTEIN; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG; DOPAMINE; RAB39B PROTEIN, HUMAN;

ARTICLE; BASAL GANGLION; CONFORMATIONAL TRANSITION; DIFFUSE LEWY BODY DISEASE; DOPAMINERGIC NERVE CELL; EARLY ONSET PARKINSON DISEASE; FIBROBLAST; GENE LOSS; GENE SILENCING; GENETIC MARKER; HUMAN; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; IMMUNOREACTIVITY; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; INTRACELLULAR MEMBRANE; LEWY BODY; LOCUS CERULEUS; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; NEUROBLASTOMA; NEUROBLASTOMA CELL; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NONHUMAN; OPEN READING FRAME; PARKINSON DISEASE; PATHOGENESIS; PATHOLOGY; PHENOTYPE; PROTEIN STRUCTURE; SITE DIRECTED MUTAGENESIS; SUBSTANTIA NIGRA; THALAMUS; TUMOR SPHEROID; WHITE MATTER; X CHROMOSOME; X CHROMOSOME RECESSIVE DISORDER; X LINKED INTELLECTUAL DISABILITY; AMINO ACID SUBSTITUTION; AUSTRALIA; CHEMICAL STRUCTURE; DNA SEQUENCE; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; MALE; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; NERVE DEGENERATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; X CHROMOSOMAL INHERITANCE;

ALPHA-SYNUCLEIN; AMINO ACID SUBSTITUTION; AUSTRALIA; BASE SEQUENCE; DOPAMINE; FEMALE; GENE EXPRESSION REGULATION; GENES, X-LINKED; HUMANS; INTELLECTUAL DISABILITY; LEWY BODIES; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE DEGENERATION; PARKINSON DISEASE; PEDIGREE; RAB GTP-BINDING PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SUBSTANTIA NIGRA;

EID: 84919650942     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.10.015     Document Type: Article

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