Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia

Paroxysmal nonkinesigenic dyskinesia (PNKD) is an autosomal dominant episodic movement disorder. Patients have episodes that last 1 to 4 hours and are precipitated by alcohol, coffee, and stress. Previous research has shown that mutations in an uncharacterized gene on chromosome 2q33-q35 (which is t...

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Veröffentlicht in:	The Journal of clinical investigation 2012-02, Vol.122 (2), p.507-518
Hauptverfasser:	Lee, Hsien-yang, Nakayama, Junko, Xu, Ying, Fan, Xueliang, Karouani, Maha, Shen, Yiguo, Pothos, Emmanuel N, Hess, Ellen J, Fu, Ying-Hui, Edwards, Robert H, Ptácek, Louis J
Format:	Artikel
Sprache:	eng
Schlagworte:	Alcohol Amino Acid Sequence Amino acids Animals Antibodies Biomedical research Caffeine Chorea - genetics Chorea - physiopathology Corpus Striatum - cytology Corpus Striatum - drug effects Corpus Striatum - physiology Dopamine Dopamine - metabolism Dopamine Uptake Inhibitors - pharmacology Dyskinesia Gene mutations Genetic aspects Genotype & phenotype Health aspects HEK293 Cells Humans Mice Mice, Transgenic Molecular Sequence Data Movement disorders Muscle Proteins - genetics Muscle Proteins - metabolism Mutation Nomifensine - pharmacology Pathophysiology Phenotype Physiological aspects Proteins Risk factors Transgenic animals
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