Article

Characterization of <i>Dnajc12</i> knock-out mice, a model of hypodopaminergia

2024-07-10

Abstract excerpt

Homozygous DNAJC12 c.79-2A>G (p. V27Wfs*14) loss-of-function mutations were first reported as a cause of young-onset Parkinson’s disease. However, bi-allelic autosomal recessive pathogenic variants in DNAJC12 may lead to an alternative constellation of neurological features, including infantile dystonia, developmental delay, intellectual disability and neuropsychiatric disorders. DNAJC12 is understood to co-chap...

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Literature Corpus work: efbab8f6-5eb1-54b7-aba6-a3f036c3ed27
DOI: 10.1101/2024.07.06.602343

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