Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

@article{Derwinska2012ClinicalIO,
  title={Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.},
  author={Katarzyna Derwinska and Hanna Mierzewska and Alicja Goszczańska and Elżbieta Szczepanik and Zhilian Xia and Katarzyna Kuśmierska and Jolanta Tryfon and Anna Kutkowska-Kaźmierczak and Ewa Bocian and Tadeusz Mazurczak and Ewa Obersztyn and Paweł Stankiewicz},
  journal={American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics},
  year={2012},
  volume={159B 2},
  pages={236-42}
}
The development of midbrain dopamine (DA) neurons is regulated by several transcription factors, including Nurr1, Wnt1, Lmx1a/1b, En1, En2, Foxa1, Foxa2, and Pitx3. PITX3 is an upstream co-activator of the TH (tyrosine hydroxylase) promoter. Pitx3(-/-) mice have a selective loss of dopaminergic neurons in the substantia nigra and ventral tegmental area, leading to the significantly reduced DA levels in the nigrostriatal pathway and in the dorsal striatum and manifest anomalous striatum… CONTINUE READING

Similar Papers

Loading similar papers…