Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Edgardo Rodriguez-Lebron"'
Publikováno v:
Neurobiology of Disease, Vol 134, Iss , Pp - (2020)
Expression of mutant Ataxin-1 with an abnormally expanded polyglutamine domain is necessary for the onset and progression of spinocerebellar ataxia type 1 (SCA1). Understanding how Ataxin-1 expression is regulated in the human brain could inspire nov
Externí odkaz:
https://doaj.org/article/46b467cbfec740e584c25ceea6bfebae
Publikováno v:
Neurobiology of Disease, Vol 54, Iss , Pp 456-463 (2013)
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disorder caused by polyglutamine repeat expansions in Ataxin-1. Recent evidence supports a role for microRNAs (miRNAs) deregulation in SCA1 pathogenesis. However, the ex
Externí odkaz:
https://doaj.org/article/2dd3e90e44cd408bbc952cce29493654
Publikováno v:
Neurobiology of Disease, Vol 29, Iss 3, Pp 446-455 (2008)
Gene transfer strategies to reduce levels of mutant huntingtin (mHtt) mRNA and protein by targeting human Htt have shown therapeutic promise in vivo. Previously, we have reported that a specific, adeno-associated viral vector (rAAV)-delivered short-h
Externí odkaz:
https://doaj.org/article/b9ff9b59dbae4af3b27be35340e8eb41
Autor:
M. Carolina Gallego-Iradi, Edgardo Rodriguez-Lebron, Haley Strunk, Anthony M. Crown, Rachel Davila, David R. Borchelt, Hilda Brown
Publikováno v:
Laboratory investigation; a journal of technical methods and pathology
RNA binding proteins associated with amyotrophic lateral sclerosis (ALS) and muscle myopathy possess sequence elements that are low in complexity, or bear resemblance to yeast prion domains. These sequence elements appear to mediate phase separation
Autor:
Wen Lang Lin, Kevin H. Strang, Brittany M. Woody, Paramita Chakrabarty, Yona Levites, Edgardo Rodriguez-Lebron, Pedro E. Cruz, Todd E. Golde, Carolina Ceballos-Diaz, Michael DeTure, Daniel Ryu, Benoit I. Giasson, Dennis W. Dickson, Cara L. Croft
Publikováno v:
The Journal of Experimental Medicine
Croft et al. demonstrate the use of recombinant adeno-associated viruses and organotypic brain slice cultures to study the central nervous system. This strategy can be used to model Alzheimer’s and Parkinson’s disease inclusion pathologies and de
Publikováno v:
Neurobiology of Disease, Vol 134, Iss, Pp-(2020)
Expression of mutant Ataxin-1 with an abnormally expanded polyglutamine domain is necessary for the onset and progression of spinocerebellar ataxia type 1 (SCA1). Understanding how Ataxin-1 expression is regulated in the human brain could inspire nov
Autor:
Maurice S. Swanson, Edgardo Rodriguez-Lebron, Rachel Davila, Hilda Brown, Jada Lewis, Judy C. Triplett, James D. Thomas, David R. Borchelt, M. Carolina Gallego Iradi, Anthony M. Crown, Guilian Xu
Publikováno v:
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-15 (2018)
Scientific Reports, Vol 8, Iss 1, Pp 1-15 (2018)
To understand how mutations in Matrin 3 (MATR3) cause amyotrophic lateral sclerosis (ALS) and distal myopathy, we used transcriptome and interactome analysis, coupled with microscopy. Over-expression of wild-type (WT) or F115C mutant MATR3 had little
Autor:
Svetlana Fischer, Yemen Yang, Beverly L. Davidson, Katiuska Luna-Cancalon, Rahil M. Dharia, Michelle Ouyang, Henry L. Paulson, Maria do Carmo Costa, Edgardo Rodriguez-Lebron, Vikram G. Shakkottai, Lucas Martin-Fishman, Naila S. Ashraf
Publikováno v:
Molecular Therapy. 21(10):1898-1908
Machado–Joseph disease (MJD) is a dominantly inherited ataxia caused by a polyglutamine-coding expansion in the ATXN3 gene. Suppressing expression of the toxic gene product represents a promising approach to therapy for MJD and other polyglutamine
Publikováno v:
Neurobiology of Disease, Vol 43, Iss 3, Pp 533-542 (2011)
Spinocerebellar ataxia type 6 (SCA6) is an inherited neurodegenerative disease caused by a polyglutamine (polyQ) expansion in the Ca(V)2.1 voltage-gated calcium channel subunit (CACNA1A). There is currently no treatment for this debilitating disorder
Autor:
Edgardo Rodriguez-Lebron, Eszter Zavodszky, Henry L. Paulson, Jason E. Gestwicki, Ana Djarmati, Junmin Peng, Ping Xu, John R. Konen, K. Matthew Scaglione, Srikanth Patury, Svetlana Fischer, Sokol V. Todi
Publikováno v:
Molecular Cell. 43:599-612
The mechanisms by which ubiquitin ligases are regulated remain poorly understood. Here we describe a series of molecular events that coordinately regulate CHIP, a neuroprotective E3 implicated in protein quality control. Through their opposing activi