Article
A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.
Human molecular genetics - 15 Nov 2017
Caine Charlotte, Shohat Meytal, Kim Jeong-Ki, Nakanishi Koki, Homma Shunichi, Mosharov Eugene V, Monani Umrao R
Abstract excerpt
Homozygous mutations in the aromatic l-amino acid decarboxylase (AADC) gene result in a severe depletion of its namesake protein, triggering a debilitating and often fatal form of infantile Parkinsonism known as AADC deficiency. AADC deficient patients fail to produce normal levels of the monoamine neurotransmitters dopamine and serotonin, and suffer a multi-systemic disorder characterized by movement...
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