Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Ioanna A. Armata"'
Publikováno v:
Neurobiology of Disease, Vol 42, Iss 2, Pp 136-147 (2011)
The hereditary dystonias comprise a set of diseases defined by a common constellation of motor deficits. These disorders are most likely associated with different molecular etiologies, many of which have yet to be elucidated. Here we discuss recent a
Externí odkaz:
https://doaj.org/article/37a16d098d6f401b875b0e50f00059ed
Autor:
Ioanna A. Armata, Leonora Balaj, John K. Kuster, Xuan Zhang, Shelun Tsai, Andreas A. Armatas, Trisha J. Multhaupt-Buell, Roy Soberman, Xandra O. Breakefield, Hiroshi Ichinose, Nutan Sharma
Publikováno v:
PLoS ONE, Vol 8, Iss 10 (2013)
Externí odkaz:
https://doaj.org/article/cc207b8edfad4e6cb0415858c9b4e208
Publikováno v:
Journal of Nucleic Acids, Vol 2012 (2012)
Early onset dystonia (EOD) is associated with a 3bp-(ΔGAG) in-frame deletion in the TOR1A gene, which encodes for torsinA. Carriers of the mutant (ΔGAG) allele can either develop or escape a dystonic phenotype (~30% penetrance). The expression rati
Externí odkaz:
https://doaj.org/article/308420765c5c4833b7ec95caa7e3511e
Publikováno v:
Neurobiology of Disease, Vol 42, Iss 2, Pp 136-147 (2011)
The hereditary dystonias comprise a set of diseases defined by a common constellation of motor deficits. These disorders are most likely associated with different molecular etiologies, many of which have yet to be elucidated. Here we discuss recent a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afa004bedafb4aaf90f3d94bf492f148
https://doi.org/10.1016/j.nbd.2010.11.015
https://doi.org/10.1016/j.nbd.2010.11.015
Autor:
Ioanna A. Armata, Panagiotis Giompres, Dimitra Giannakopoulou, Ada Mitsacos, Pullani Shashidharan
Publikováno v:
Journal of Neural Transmission. 117:1401-1409
Dystonia is a movement disorder characterized by involuntary excessive muscle activity and abnormal postures. There are data supporting the hypothesis that basal ganglia dysfunction, and specifically dopaminergic system dysfunction, plays a role in d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eaa999817d89af78d678064510b558b
https://doi.org/10.1007/s00702-010-0521-5
https://doi.org/10.1007/s00702-010-0521-5
Autor:
Elias D. Kouvelas, Adam L. Smith, Ioanna A. Armata, Kalliopi Stasi, Panagiotis Giompres, Ada Mitsacos
Publikováno v:
Neuroscience Letters. 393:12-17
In the retina, neurotransmission from photoreceptors to ON-cone and rod bipolar cells is sign reversing and mediated by the metabotropic glutamate receptor mGluR6, which converts the light-evoked hyperpolarization of the photoreceptors into depolariz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42b5179131538526958901b681bc6af4
https://doi.org/10.1016/j.neulet.2005.09.038
https://doi.org/10.1016/j.neulet.2005.09.038
Autor:
T. Sreenath, Ruth H. Walker, C. W. Olanow, Donald J. Weisz, Ioanna A. Armata, P. Shashidharan, Daniela Sandu, Mitchell F. Brin, U. Potla, Kevin St. P. McNaught
Publikováno v:
Human Molecular Genetics. 14:125-133
Early-onset dystonia is an autosomal dominant movement disorder associated with deletion of a glutamic acid residue in torsinA. We generated four independent lines of transgenic mice by overexpressing human DeltaE-torsinA using a neuron specific enol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa36f66fc828156b07974ee7d11d1c06
https://doi.org/10.1093/hmg/ddi012
https://doi.org/10.1093/hmg/ddi012
Autor:
Ioanna A. Armata, Leonora Balaj, John K. Kuster, Xuan Zhang, Shelun Tsai, Andreas A. Armatas, Trisha J. Multhaupt-Buell, Roy Soberman, Xandra O. Breakefield, Hiroshi Ichinose, Nutan Sharma
Publikováno v:
PLoS ONE, Vol 8, Iss 10 (2013)
PLoS ONE
PLoS ONE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c5cde8b80c92b8b93a70c9df774d0f1
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806865/?tool=EBI
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806865/?tool=EBI
Autor:
Flávia C. Nery, Xandra O. Breakefield, Ioanna A. Armata, Guy A. Caldwell, Cintia Carla da Hora, Qiuyan Wang, Wayne I. Lencer, Bakhos A. Tannous, Yihong Ye, Mitsuo Tagaya, Pan Chen, Christine Klein, Jonathan E. Farley, Kim A. Caldwell, Jin Ah Cho, Uzma Yaqub
Publikováno v:
Nature communications
TorsinA is an AAA + ATPase located within the lumen of the endoplasmic reticulum and nuclear envelope, with a mutant form causing early onset torsion dystonia (DYT1). Here we report a new function for torsinA in endoplasmic reticulum-associated degra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d7631fa7f44d8735a811912f130b39d
https://pubmed.ncbi.nlm.nih.gov/21750546
https://pubmed.ncbi.nlm.nih.gov/21750546
Autor:
P. Shashidharan, Ioanna A. Armata, Meenakshisundaram Ananthanarayanan, Natarajan Balasubramaniyan
Publikováno v:
Journal of Neurochemistry.
The DYT1 gene encodes for torsinA, a protein with widespread tissue distribution, involved in early onset dystonia (EOD). Numerous studies have focused on torsinA function but no information is available on its transcriptional regulation. We cloned m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90507c8a93383b61405fb849e786d8e7
https://doi.org/10.1111/j.1471-4159.2008.05465.x
https://doi.org/10.1111/j.1471-4159.2008.05465.x