Zobrazeno 1 - 10
of 521
pro vyhledávání: '"torsinA"'
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
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:
Fumiaki Yokoi, Mai Tu Dang, Lin Zhang, Kelly M. Dexter, Iakov Efimenko, Shiv Krishnaswamy, Matthew Villanueva, Carly I. Misztal, Malinda Gerard, Patrick Lynch, Yuqing Li
Publikováno v:
IBRO Neuroscience Reports, Vol 11, Iss , Pp 1-7 (2021)
DYT-TOR1A or DYT1 early-onset generalized dystonia is an inherited movement disorder characterized by sustained muscle contractions causing twisting, repetitive movements, or abnormal postures. The majority of the DYT1 dystonia patients have a trinuc
Externí odkaz:
https://doaj.org/article/4e2c2556aeb34140ba67afda77cd1a0e
Publikováno v:
Neurobiology of Disease, Vol 168, Iss , Pp 105699- (2022)
Trihexyphenidyl (THP), a non-selective muscarinic receptor (mAChR) antagonist, is commonly used for the treatment of dystonia associated with TOR1A, otherwise known as DYT1 dystonia. A better understanding of the mechanism of action of THP is a criti
Externí odkaz:
https://doaj.org/article/1a227e4b422741cc8745040ef9891087
Akademický článek
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Autor:
Lilian Cruz, Bence György, Pike See Cheah, Benjamin P. Kleinstiver, William A. Eimer, Sara P. Garcia, Nutan Sharma, Laurie J. Ozelius, D. Cristopher Bragg, J. Keith Joung, Osmar Norberto de Souza, Luis Fernando Saraiva Macedo Timmers, Xandra O. Breakefield
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 21, Iss , Pp 1-12 (2020)
Most individuals affected with DYT1 dystonia have a heterozygous 3-bp deletion in the TOR1A gene (c.907_909delGAG). The mutation appears to act through a dominant-negative mechanism compromising normal torsinA function, and it is proposed that reduci
Externí odkaz:
https://doaj.org/article/7258ef6927e544c29b5663dbd5f40e37
Publikováno v:
Data in Brief, Vol 39, Iss , Pp 107609- (2021)
Here, we present quantitative subcellular compartment-specific proteomic data from wildtype and DYT-TOR1A heterozygous mouse embryonic fibroblasts (MEFs) basally and following thapsigargin (Tg) treatment [1]. In this experiment, we generated MEFs fro
Externí odkaz:
https://doaj.org/article/92b04d4359d04b72a79daef5697143b3
Publikováno v:
Neurobiology of Disease, Vol 158, Iss , Pp 105464- (2021)
TorsinA is a AAA+ ATPase that shuttles between the ER lumen and outer nuclear envelope in an ATP-dependent manner and is functionally implicated in nucleocytoplasmic transport. We hypothesized that the DYT-TOR1A dystonia disease-causing variant, ΔE
Externí odkaz:
https://doaj.org/article/5e48ac5818d14e1091206a2565bdbcf2
Autor:
Yuning Liu, Hong Xing, Wanhui Sheng, Kyle N. Singh, Alexandra G. Korkmaz, Caroline Comeau, Maisha Anika, Alexis Ernst, Fumiaki Yokoi, David E. Vaillancourt, Charles J. Frazier, Yuqing Li
Publikováno v:
Neurobiology of Disease, Vol 154, Iss , Pp 105342- (2021)
Dystonia is a neurological movement disorder characterized by sustained or intermittent muscle contractions, repetitive movement, and sometimes abnormal postures. DYT1 dystonia is one of the most common genetic dystonias, and most patients carry hete
Externí odkaz:
https://doaj.org/article/8236ce4e236641d7869644a27c28edb8
Autor:
Anthony M. Downs, Xueliang Fan, Radhika F. Kadakia, Yuping Donsante, H.A. Jinnah, Ellen J. Hess
Publikováno v:
Neurobiology of Disease, Vol 155, Iss , Pp 105369- (2021)
TOR1A-associated dystonia, otherwise known as DYT1 dystonia, is an inherited dystonia caused by a three base-pair deletion in the TOR1A gene (TOR1AΔE). Although the mechanisms underlying the dystonic movements are largely unknown, abnormalities in s
Externí odkaz:
https://doaj.org/article/1f0aea9f427b41ab97e4422a37d0b53d