Article

DNAJC12 in monoamine metabolism, neurodevelopment and neurodegeneration

2023-06-23

Abstract excerpt

Recent studies show that mutations in DNAJC12 , a co-chaperone for monoamine synthesis may cause mild hyperphenylalaninemia with infantile dystonia, young-onset parkinsonism, developmental delay and cognitive deficits. To this end, DNAJC12 gene has been included in newborn screening, most revealingly in Spain, and those results are a testament to the importance of early diagnosis and treatment in combating human d...

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Literature Corpus work: 3c77b351-ef4a-5061-af8e-08692a4411fb
DOI: 10.1101/2023.06.22.23291747

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