Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Jeffrey W. Hewett"'
Publikováno v:
Neurobiology of Disease, Vol 22, Iss 1, Pp 98-111 (2006)
Early onset torsion dystonia is a movement disorder inherited as an autosomal dominant syndrome with reduced penetrance. Symptoms appear to result from altered neuronal circuitry within the brain with no evidence of neuronal loss. Most cases are caus
Externí odkaz:
https://doaj.org/article/fef5fc9b747046cbaeeb1cffdee38252
Publikováno v:
PLoS ONE, Vol 2, Iss 6, p e571 (2007)
The secretory pathway is a critical index of the capacity of cells to incorporate proteins into cellular membranes and secrete proteins into the extracellular space. Importantly it is disrupted in response to stress to the endoplasmic reticulum that
Externí odkaz:
https://doaj.org/article/d89b29e55e62467faebe7787af06245a
Autor:
Bakhos A. Tannous, Yuqing Li, Juan Zeng, Xandra O. Breakefield, Jeffrey W. Hewett, Brian P. Niland, Flávia C. Nery
Publikováno v:
Proceedings of the National Academy of Sciences. 104:7271-7276
TorsinA is an AAA + protein located predominantly in the lumen of the endoplasmic reticulum (ER) and nuclear envelope responsible for early onset torsion dystonia (DYT1). Most cases of this dominantly inherited movement disorder are caused by deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df594897169f955e789f254121c49042
https://doi.org/10.1073/pnas.0701185104
https://doi.org/10.1073/pnas.0701185104
Autor:
Walter J. Schulz-Schaeffer, T. Pfander, Jeffrey W. Hewett, Michael L. Kramer, Xandra O. Breakefield, John C. Hedreen, S. Siegert, Kevin Rostasy, E. Bahn
Publikováno v:
Brain Research. 1116:112-119
Familial, early onset, generalized torsion dystonia is the most common and severe primary dystonia. The majority of cases are caused by a 3-bp deletion (GAG) in the coding region of the DYT1 (TOR1A) gene. The cellular and regional distribution of tor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bca7ac777348e079aa2d97694c6f3c92
https://doi.org/10.1016/j.brainres.2006.07.102
https://doi.org/10.1016/j.brainres.2006.07.102
Publikováno v:
Neurobiology of Disease, Vol 22, Iss 1, Pp 98-111 (2006)
Early onset torsion dystonia is a movement disorder inherited as an autosomal dominant syndrome with reduced penetrance. Symptoms appear to result from altered neuronal circuitry within the brain with no evidence of neuronal loss. Most cases are caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc961278b2a9d252ede1cf168b497aee
http://www.sciencedirect.com/science/article/pii/S0969996105002767
http://www.sciencedirect.com/science/article/pii/S0969996105002767
Autor:
Christoph Kamm, Roberta L. Beauchamp, Laurie J. Ozelius, Phyllis I. Hanson, Jeffrey W. Hewett, Xandra O. Breakefield, Heather Boston, Vijaya Ramesh, Teri Naismith
Publikováno v:
Journal of Neurochemistry. 89:1186-1194
The torsins comprise a four-member family of AAA+ chaperone proteins, including torsinA, torsinB, torp2A and torp3A in humans. Mutations in torsinA underlie early onset torsion dystonia, an autosomal dominant, neurologically based movement disorder.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3879428363706db3c7e833a95866b4d2
https://doi.org/10.1111/j.1471-4159.2004.02404.x
https://doi.org/10.1111/j.1471-4159.2004.02404.x
Autor:
Vijaya Ramesh, David P. Corey, Xandra O. Breakefield, Christoph Kamm, Phyllis I. Hanson, Heather Boston, Jeremy D. Wilbur, Jeffrey W. Hewett
Publikováno v:
Journal of Biological Chemistry. 279:19882-19892
Early onset dystonia is a movement disorder caused by loss of a glutamic acid residue (Glu(302/303)) in the carboxyl-terminal portion of the AAA+ protein, torsinA. We identified the light chain subunit (KLC1) of kinesin-I as an interacting partner fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36d575bb5c1357b3f59e32130aff8985
https://doi.org/10.1074/jbc.m401332200
https://doi.org/10.1074/jbc.m401332200
Autor:
Laurie J. Ozelius, Xandra O. Breakefield, Sara M. Camp, Daniele Bergeron, Nicole A. Smith, Teri Naismith, Damien Slater, Vijaya Ramesh, Heather Boston, Jeremy D. Wilbur, Christoph Kamm, Deborah E. Schuback, Philipp Ziefer, Jeffrey W. Hewett, Phyllis I. Hanson
Publikováno v:
Journal of Neuroscience Research. 72:158-168
Most cases of early-onset torsion dystonia are caused by deletion of GAG in the coding region of the DYT1 gene encoding torsinA. This autosomal dominant neurologic disorder is characterized by abnormal movements, believed to originate from neuronal d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e822f0f59be0d5dd29c94b6a67e37c9c
https://doi.org/10.1002/jnr.10567
https://doi.org/10.1002/jnr.10567
Autor:
Kevin Rostasy, Jeffrey W. Hewett, Laurie J. Ozelius, John C. Hedreen, Vijaya Ramesh, Joanne Chung On Leung, David G. Standaert, Xandra O. Breakefield, Sarah J. Augood, Hikaru Sasaki
Publikováno v:
Neurobiology of Disease, Vol 12, Iss 1, Pp 11-24 (2003)
Familial, early onset, generalized torsion dystonia is the most common and severe primary dystonia. Most cases are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A (DYT1) gene, which is widely expressed in human brain and encodes the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::951219e7f29a77b3587c4f173a5bd2ba
https://doi.org/10.1016/s0969-9961(02)00010-4
https://doi.org/10.1016/s0969-9961(02)00010-4
Autor:
Saadat Shariff, Kenji Ueda, Xandra O. Breakefield, Hibiki Kawamata, Bradley T. Hyman, Nutan Sharma, Pamela J. McLean, Jeffrey W. Hewett
Publikováno v:
Journal of Neurochemistry. 83:846-854
TorsinA, a protein with homology to yeast heat shock protein104, has previously been demonstrated to colocalize with α-synuclein in Lewy bodies, the pathological hallmark of Parkinson's disease. Heat shock proteins are a family of chaperones that ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a34757a3cfdebdbbad943174f71ec80
https://doi.org/10.1046/j.1471-4159.2002.01190.x
https://doi.org/10.1046/j.1471-4159.2002.01190.x