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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
(2014-09)
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal ...
Polygenic risk score for schizophrenia is more strongly associated with ancestry than with schizophrenia.
(2018-10)
BACKGROUND: The polygenic risk score (PRS) for schizophrenia, derived from very large numbers of weakly associated genetic markers, has been repeatedly shown to be robustly associated with schizophrenia in independent ...
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
(Elsevier, 2017-12-20)
SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public ...