PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia

Parkinsonism and Related Disorders

Volumn 20, Issue 12, 2014, Pages 1399-1404

  Wu, Li ^a   Tang, Hui Dong ^a   Huang, Xiao Jun ^a   Zheng, Lan ^a   Liu, Xiao Li ^a   Wang, Tian ^a   Wang, Jing Yi ^a   Cao, Li ^a   Chen, Sheng Di ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Nonsense mediated mRNA decay (NMD); Paroxysmal kinesigenic dyskinesia (PKD); Proline rich transmembrane protein 2 (PRRT2); Regulator of nonsense transcripts 1(UPF1)

Indexed keywords

CELL MEMBRANE PROTEIN; CYCLOHEXIMIDE; EMETINE; MUTANT PROTEIN; PROTEIN PRRT2; PROTEIN UPF1; SMALL INTERFERING RNA; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CELL IMMORTALIZATION; CELL MEMBRANE; CELLULAR DISTRIBUTION; CYTOPLASM; EUKARYOTIC CELL; GENETIC TRANSFECTION; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; LYMPHOBLAST; MUTATIONAL ANALYSIS; NONSENSE MEDIATED MRNA DECAY; PAROXYSMAL KINESIGENIC DYSKINESIA; PROTEIN EXPRESSION; RNA DEGRADATION; STOP CODON; WILD TYPE;

EID: 84915804881     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2014.10.012     Document Type: Article

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