Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Dopamine transporter deficiency syndrome"'
Publikováno v:
Cells, Vol 12, Iss 13, p 1737 (2023)
Infantile parkinsonism-dystonia due to dopamine transporter deficiency syndrome (DTDS) is an ultrarare childhood movement disorder caused by biallelic loss-of-function mutations in the SLC6A3 gene. Advances in genomic analysis have revealed an evolvi
Externí odkaz:
https://doaj.org/article/13b27937304742a694aef2d5149af478
Autor:
Francesco Pisani, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Margherita Baga, Luca Soliani, Carlotta Spagnoli, Carlo Fusco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74e22ebb96da58edbf515ba1ce2ac636
https://hdl.handle.net/11573/1670219
https://hdl.handle.net/11573/1670219
Publikováno v:
Mov Disord Clin Pract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::766259f60aa23df20739363a6b2c4855
https://europepmc.org/articles/PMC7525197/
https://europepmc.org/articles/PMC7525197/
Autor:
Damiana Leo, Giuseppina Zampi, Ambra Lanzo, Elia Di Schiavi, Placido Illiano, Maria Paglione, Raul R. Gainetdinov
Publikováno v:
European journal of neuroscience
(2016): 1–8. doi:10.1111/ejn.13366
info:cnr-pdr/source/autori:Placido Illiano, Ambra Lanzo, Damiana Leo, Maria Paglione, Giuseppina Zampi, Raul R. Gainetdinov and Elia Di Schiavi/titolo:A Caenorhabditis elegans model to study dopamine transporter deficiency syndrome/doi:10.1111%2Fejn.13366/rivista:European journal of neuroscience (Print)/anno:2016/pagina_da:1/pagina_a:8/intervallo_pagine:1–8/volume
(2016): 1–8. doi:10.1111/ejn.13366
info:cnr-pdr/source/autori:Placido Illiano, Ambra Lanzo, Damiana Leo, Maria Paglione, Giuseppina Zampi, Raul R. Gainetdinov and Elia Di Schiavi/titolo:A Caenorhabditis elegans model to study dopamine transporter deficiency syndrome/doi:10.1111%2Fejn.13366/rivista:European journal of neuroscience (Print)/anno:2016/pagina_da:1/pagina_a:8/intervallo_pagine:1–8/volume
Dopamine transporter deficiency syndrome (DTDS) is a novel autosomal recessive disorder caused by mutations in the dopamine transporter (DAT), which leads to the partial or total loss of function of the protein. DTDS is a pharmacoresistant syndrome a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4feb2ab954be6a54b643766edb1d6d74
https://doi.org/10.1111/ejn.13366
https://doi.org/10.1111/ejn.13366
Publikováno v:
Annals of human geneticsREFERENCES. 84(4)
The human dopamine transporter (hDAT) participates in dopamine homeostasis by clearing dopamine from the extracellular space using secondary active transport. Dysregulation of hDAT has been reported to be associated with different neuropsychiatric di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ee26e6784ceffae98b2f3d90941e9c8
https://pubmed.ncbi.nlm.nih.gov/32077500
https://pubmed.ncbi.nlm.nih.gov/32077500
Autor:
Juan Viana, Yong-Hwan Kim, Min Landon Lin, Etienne Cartier, Michael J. Moore, Jennie Garcia-Olivares, Gonzalo E. Torres, Eric M. Janezic, Jeffrey L. Caplan
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 13 (2019)
Frontiers in Cellular Neuroscience
Frontiers in Cellular Neuroscience
The dopamine transporter (DAT) is a plasma membrane protein responsible for the uptake of released dopamine back to the presynaptic terminal and ending dopamine neurotransmission. The DAT is the molecular target for cocaine and amphetamine as well as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f65fdb19e6085b5db806d83b44c379
https://www.frontiersin.org/article/10.3389/fncel.2019.00035/full
https://www.frontiersin.org/article/10.3389/fncel.2019.00035/full
Akademický článek
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Akademický článek
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Autor:
Bettina Balint, Kailash P. Bhatia
Publikováno v:
European Journal of Neurology. 22:610-617
Recent consensus on the definition, phenomenology and classification of dystonia centres around phenomenology and guides our diagnostic approach for the heterogeneous group of dystonias. Current terminology classifies conditions where dystonia is the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06e41a59bf5ea3c5c6bc9dad82b00c32
https://doi.org/10.1111/ene.12650
https://doi.org/10.1111/ene.12650
Autor:
Stefano Espinoza, Damiana Leo, Loris Fichera, Raul R. Gainetdinov, Tatiana D. Sotnikova, Liudmila Mus, Evgeny A. Budygin, Caroline E. Bass, Placido Illiano
Publikováno v:
Scientific Reports
Dopamine Transporter Deficiency Syndrome (DTDS) is a rare autosomal recessive disorder caused by loss-of-function mutations in dopamine transporter (DAT) gene, leading to severe neurological disabilities in children and adults. DAT-Knockout (DAT-KO)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::698843d9e7fe69215857d9b82a04eca4