Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease

Autor: Freja Herborg, Kathrine L. Jensen, Sasha Tolstoy, Natascha V. Arends, Leonie P. Posselt, Aparna Shekar, Jenny I. Aguilar, Viktor K. Lund, Kevin Erreger, Mattias Rickhag, Matthew D. Lycas, Markus N. Lonsdale, Troels Rahbek-Clemmensen, Andreas T. Sørensen, Amy H. Newman, Annemette Løkkegaard, Ole Kjærulff, Thomas Werge, for the iPSYCH researchers, Lisbeth B. Møller, Heinrich J.G. Matthies, Aurelio Galli, Lena E. Hjermind, Ulrik Gether

Publikováno v: JCI Insight, Vol 6, Iss 18 (2021)

Dysfunctional dopaminergic neurotransmission is central to movement disorders and mental diseases. The dopamine transporter (DAT) regulates extracellular dopamine levels, but the genetic and mechanistic link between DAT function and dopamine-related

Externí odkaz: https://doaj.org/article/0e76e431d1f8444ba28610dba3786a03

A network of phosphatidylinositol (4,5)-bisphosphate (PIP2) binding sites on the dopamine transporter regulates amphetamine behavior in Drosophila Melanogaster

Autor: Aparna Shekar, Andrea N Belovich, Samuel J. Mabry, Jenny I. Aguilar, Mary Hongying Cheng, Aurelio Galli, Heinrich J.G. Matthies, Daniele Zanella, Ivet Bahar, James D. Foster, Peter J. Hamilton, Daniel J. Stanislowski

Publikováno v: Mol Psychiatry

Reward modulates the saliency of a specific drug exposure and is essential for the transition to addiction. Numerous human PET–fMRI studies establish a link between midbrain dopamine (DA) release, DA transporter (DAT) availability, and reward respo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2acb3023906ef59bac4648f34163f922
https://doi.org/10.1038/s41380-019-0620-0

Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease

Autor: Kevin Erreger, Mattias Rickhag, Leonie P. Posselt, Aparna Shekar, Aurelio Galli, Troels Rahbek-Clemmensen, Markus Nowak Lonsdale, Sasha Tolstoy, Annemette Løkkegaard, Amy Hauck Newman, Natascha V. Arends, Andreas T. Sørensen, Thomas Werge, Viktor K. Lund, Lisbeth Birk Møller, Jenny I. Aguilar, Ulrik Gether, Kathrine L. Jensen, Lena Elisabeth Hjermind, Matthew D. Lycas, Ole Kjaerulff, Heinrich J.G. Matthies, Freja Herborg

Publikováno v: JCI Insight
Herborg, F, Jensen, K L, Tolstoy, S, Arends, N, Posselt, L P, Shekar, A, Aguilar, J, Lund, V K, Erreger, K, Rickhag, M, Lycas, M D, Lonsdale, M N, Rahbek-Clemmensen, T, Sorensen, A T, Newman, A H, Lokkegaard, A, Kjaerulff, O, Werge, T, Moller, L B, Matthies, H J G, Galli, A, Hjermind, L E, Gether, U & IPSYCH Researchers 2021, ' Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease ', JCI insight, vol. 6, no. 18, 151496 . https://doi.org/10.1172/jci.insight.151496

Dysfunctional dopaminergic neurotransmission is central to movement disorders and mental diseases. The dopamine transporter (DAT) regulates extracellular dopamine levels, but the genetic and mechanistic link between DAT function and dopamine-related

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ca6cf7f70e973bb64f7b6009b997c20
https://pubmed.ncbi.nlm.nih.gov/34375312

Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia

Autor: Jens Meiler, Renae M. Ryan, Hassane S. Mchaourab, Andrea N Belovich, Amanda M. Duran, Manju A Kurian, Lei Shi, Yanqi Zhu, Alexandra C Schwartz, Josep Font, Heinrich J.G. Matthies, Aurelio Galli, Samuel J. Mabry, Kaitlyn Ledwitch, Angela M. Carter, Mary Hongying Cheng, Jenny I. Aguilar, Cristina Fenollar-Ferrer, Ivet Bahar

Publikováno v: eLife, Vol 10 (2021)
eLife

Parkinson disease (PD) is a progressive, neurodegenerative disorder affecting over 6.1 million people worldwide. Although the cause of PD remains unclear, studies of highly-penetrant mutations identified in early-onset familial parkinsonism have cont

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f749aab95f61ea8560389d4da0d68f24
https://pubmed.ncbi.nlm.nih.gov/34188226

Autism-linked dopamine transporter mutation alters striatal dopamine neurotransmission and dopamine-dependent behaviors

Autor: Heinrich J.G. Matthies, Alyssa West, Mark T. Wallace, Jenny I. Aguilar, Kyle E. Bundschuh, Fiona E. Harrison, Gabriella E. DiCarlo, Hao Chen, Freja Herborg, Ulrik Gether, Parastoo Hashemi, Mattias Rickhag, Aurelio Galli

Publikováno v: DiCarlo, G E, Aguilar, J I, Matthies, H J G, Harrison, F E, Bundschuh, K E, West, A, Hashemi, P, Herborg, F, Rickhag, M, Chen, H, Gether, U, Wallace, M T & Galli, A 2019, ' Autism-linked dopamine transporter mutation alters striatal dopamine neurotransmission and dopamine-dependent behaviors ', Journal of Clinical Investigation, vol. 129, no. 8, pp. 3407-3419 . https://doi.org/10.1172/JCI127411

The precise regulation of synaptic dopamine (DA) content by the dopamine transporter (DAT) ensures the phasic nature of the DA signal, which underlies the ability of DA to encode reward prediction error, thereby driving motivation, attention, and beh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0df1a2b157e4a04ec6740bae05969ea7
https://pubmed.ncbi.nlm.nih.gov/31094705