Zobrazeno 1 - 10
of 336
pro vyhledávání: '"DYT-TOR1A"'
Autor:
Kerstin Tanzer, Britta Meier, Franca Vulinovic, Heike Pawlack, Christine Klein, Philip Seibler, Aleksandar Rakovic
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103595- (2024)
A 3-bp deletion (ΔGAG) in TOR1A is a common cause of early-onset isolated dystonia DYT-TOR1A. The exact disease mechanism remains unknown. Here we describe the generation and characterization of four TorsinA-3xFLAG reporter induced pluripotent cell
Externí odkaz:
https://doaj.org/article/4a6f35c94fcc48cd8fb438736432a6d5
Autor:
Susanne Knorr, Lisa Rauschenberger, Muthuraman Muthuraman, Rhonda McFleder, Thomas Ott, Kathrin Grundmann-Hauser, Takahiro Higuchi, Jens Volkmann, Chi Wang Ip
Publikováno v:
Neurobiology of Disease, Vol 194, Iss , Pp 106462- (2024)
DYT-TOR1A (DYT1) dystonia, characterized by reduced penetrance and suspected environmental triggers, is explored using a “second hit” DYT-TOR1A rat model. We aim to investigate the biological mechanisms driving the conversion into a dystonic phen
Externí odkaz:
https://doaj.org/article/e3e0427f360e46b5810d1e70a6ce8c05
Autor:
Colette Reinhold, Susanne Knorr, Rhonda L. McFleder, Lisa Rauschenberger, Muthuraman Muthuraman, Panagiota Arampatzi, Tom Gräfenhan, Andreas Schlosser, Michael Sendtner, Jens Volkmann, Chi Wang Ip
Publikováno v:
Neurobiology of Disease, Vol 193, Iss , Pp 106453- (2024)
DYT-TOR1A dystonia is the most common monogenic dystonia characterized by involuntary muscle contractions and lack of therapeutic options. Despite some insights into its etiology, the disease's pathophysiology remains unclear. The reduced penetrance
Externí odkaz:
https://doaj.org/article/75730ac91a984c17901626e8ba00be1c
Akademický článek
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Akademický článek
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Autor:
Knorr, Susanne
Early-onset torsion dystonia (DYT-TOR1A, DYT1) is an inherited hyperkinetic movement disorder caused by a mutation of the TOR1A gene encoding the torsinA protein. DYT-TOR1A is characterized as a network disorder of the central nervous system (CNS), i
Autor:
Tanzer K; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany., Meier B; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany., Vulinovic F; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany., Pawlack H; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany., Klein C; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany., Seibler P; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany., Rakovic A; Institute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany. Electronic address: aleksander.rakovic@uni-luebeck.de.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Oct 21; Vol. 81, pp. 103595. Date of Electronic Publication: 2024 Oct 21.
Akademický článek
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Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
DYT-TOR1A dystonia is a neurological disorder characterized by involuntary muscle contractions and abnormal movements. It is a severe genetic form of dystonia caused by mutations in the TOR1A gene. TorsinA is a member of the AAA + family of adenosine
Externí odkaz:
https://doaj.org/article/16fce069888d4ddaa3791f9399bdf6b0
Autor:
Johnson KA; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA; Department of Neurology, University of Florida, Gainesville, FL, USA., Sarmento FP; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA; Department of Neurology, University of Florida, Gainesville, FL, USA., Wong JK; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA; Department of Neurology, University of Florida, Gainesville, FL, USA., Hilliard JD; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA; Department of Neurosurgery, University of Florida, Gainesville, FL, USA., Foote KD; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA; Department of Neurosurgery, University of Florida, Gainesville, FL, USA., de Hemptinne C; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA; Department of Neurology, University of Florida, Gainesville, FL, USA. Electronic address: Coralie.deHemptinne@neurology.ufl.edu.
Publikováno v:
Brain stimulation [Brain Stimul] 2024 Nov 04; Vol. 17 (6), pp. 1253-1255. Date of Electronic Publication: 2024 Nov 04.