Mouse model of atypical DAT deficiency syndrome uncovers dopamine dysfunction associated with parkinsonism and ADHD

Atypical dopamine transporter (DAT) deficiency syndrome (DTDS) arises from genetic disruption of DAT function and is characterized by early-onset parkinsonism alongside comorbid psychiatric symptoms. However, the underlying pathobiological processes are largely unknown. Here, we present a mouse model of atypical DTDS based on the patient-derived compound heterozygote genotype, DAT-I312F/D421N+/+. DAT-I312F/D421N+/+ mice exhibited markedly impaired DAT function, leading to widespread changes in…

via https://pubmed.ncbi.nlm.nih.gov/41591817/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1L37KAMf2b_g4WEK3LmdFuKZu9pO3cN7u4ZmO9PPCPeBLMIw1q&fc=None&ff=20260205010906&v=2.18.0.post22+67771e2


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