Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Isabel Alland"'
Autor:
Bence György, Lilian Cruz, David Yellen, Massimo Aufiero, Isabel Alland, Xuan Zhang, Maria Ericsson, Cornel Fraefel, Yu-Ching Li, Shuko Takeda, Bradley T. Hyman, Xandra O. Breakefield
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Abstract Most cases of early onset torsion dystonia (DYT1) are caused by a 3-base pair deletion in one allele of the TOR1A gene causing loss of a glutamate in torsinA, a luminal protein in the nuclear envelope. This dominantly inherited neurologic di
Externí odkaz:
https://doaj.org/article/4131676be5884f5cbf65ea417d647cbb
Autor:
Dinghai Zheng, Lei Lu, James L. Manley, Isabel Alland, Yueh-Lin Tsai, Bin Tian, Neil A. Shneider, Tristan H. Coady
Publikováno v:
Genes Dev
Dysregulation of the DNA/RNA-binding protein FUS causes certain subtypes of ALS/FTD by largely unknown mechanisms. Recent evidence has shown that FUS toxic gain of function due either to mutations or to increased expression can disrupt critical cellu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f8f56c1546f2faaa09ab10957c240af
https://europepmc.org/articles/PMC7263147/
https://europepmc.org/articles/PMC7263147/
Autor:
Massimo Aufiero, Shuko Takeda, Bradley T. Hyman, Xandra O. Breakefield, Isabel Alland, Yu-Ching Li, Xuan Zhang, Maria Ericsson, Lilian Cruz, Bence György, Cornel Fraefel, David Yellen
Publikováno v:
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Most cases of early onset torsion dystonia (DYT1) are caused by a 3-base pair deletion in one allele of the TOR1A gene causing loss of a glutamate in torsinA, a luminal protein in the nuclear envelope. This dominantly inherited neurologic disease has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b8107bc63ef1857614ef02aa1498ac2
https://pubmed.ncbi.nlm.nih.gov/29396398
https://pubmed.ncbi.nlm.nih.gov/29396398