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Article

Genetic and pharmacological correction of aberrant dopamine synthesis using patient iPSCs with BH4 metabolism disorders.

Human molecular genetics - 1 Dec 2016

Ishikawa Taizo, Imamura Keiko, Kondo Takayuki, Koshiba Yasushi, Hara Satoshi, Ichinose Hiroshi, Furujo Mahoko, Kinoshita Masako, Oeda Tomoko, Takahashi Jun, Takahashi Ryosuke, Inoue Haruhisa

Abstract excerpt

Dopamine (DA) is a neurotransmitter in the brain, playing a central role in several disease conditions, including tetrahydrobiopterin (BH4) metabolism disorders and Parkinson's disease (PD). BH4 metabolism disorders present a variety of clinical manifestations including motor disturbance via altered DA metabolism, since BH4 is a cofactor for tyrosine hydroxylase (TH), a rate-limiting enzyme for DA synthesis....

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Identifiers

PMID: 27798097
DOI: 10.1093/hmg/ddw339
PMCID: PMC5886044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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