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Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy
Author / Creator:Cortes, Constanza J. ; Ling, Shuo-Chien ; Guo, Ling T. ; Hung, Gene ; Tsunemi, Taiji ; Ly, Linda ; Tokunaga, Seiya ; Lopez, Edith ; Sopher, Bryce L. ; Bennett, C. Frank ; Shelton, G. Diane ; Cleveland, Don W. ; La Spada, Albert R.
Publisher:United States: Elsevier Inc
Journal title:Neuron (Cambridge, Mass.), 2014-04, Vol.82 (2), p.295-307
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Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients
Author / Creator:Bennett, Craig L. ; Dastidar, Somasish G. ; Ling, Shuo-Chien ; Malik, Bilal ; Ashe, Travis ; Wadhwa, Mandheer ; Miller, Derek B. ; Lee, Changwoo ; Mitchell, Matthew B. ; van Es, Michael A. ; Grunseich, Christopher ; Chen, Yingzhang ; Sopher, Bryce L. ; Greensmith, Linda ; Cleveland, Don W. ; La Spada, Albert R.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2018-09, Vol.136 (3), p.425-443
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Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport
Author / Creator:Custer, Sara K ; Garden, Gwenn A ; Gill, Nishi ; Rueb, Udo ; Libby, Randell T ; Schultz, Christian ; Guyenet, Stephan J ; Deller, Thomas ; Westrum, Lesnick E ; Sopher, Bryce L ; La Spada, Albert R
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2006-10, Vol.9 (10), p.1302-1311
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Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity
Author / Creator:Bennett, Craig L. ; Dastidar, Somasish ; Arnold, Frederick J. ; McKinstry, Spencer U. ; Stockford, Cameron ; Freibaum, Brian D. ; Sopher, Bryce L. ; Wu, Meilin ; Seidner, Glen ; Joiner, William ; Taylor, J. Paul ; West, Ryan J. H. ; La Spada, Albert R.
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2023-10, Vol.11 (1), p.164-164, Article 164
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CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination
Author / Creator:Libby, Randell T. ; Hagerman, Katharine A. ; Pineda, Victor V. ; Lau, Rachel ; Cho, Diane H. ; Baccam, Sandy L. ; Axford, Michelle M. ; Cleary, John D. ; Moore, James M. ; Sopher, Bryce L. ; Tapscott, Stephen J. ; Filippova, Galina N. ; Pearson, Christopher E. ; La Spada, Albert R.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2008-11, Vol.4 (11), p.e1000257-e1000257
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Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology
Author / Creator:Wenzel, H. Jürgen ; Murray, Karl D. ; Haify, Saif N. ; Hunsaker, Michael R. ; Schwartzer, Jared J. ; Kim, Kyoungmi ; La Spada, Albert R. ; Sopher, Bryce L. ; Hagerman, Paul J. ; Raske, Christopher ; Severijnen, Lies-Anne W.F.M. ; Willemsen, Rob ; Hukema, Renate K. ; Berman, Robert F.
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2019-02, Vol.7 (1), p.27-22, Article 27
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Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA
Author / Creator:Cortes, Constanza J ; Miranda, Helen C ; Frankowski, Harald ; Batlevi, Yakup ; Young, Jessica E ; Le, Amy ; Ivanov, Nishi ; Sopher, Bryce L ; Carromeu, Cassiano ; Muotri, Alysson R ; Garden, Gwenn A ; La Spada, Albert R
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2014-09, Vol.17 (9), p.1180-1189
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PPAR-δ is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically
Author / Creator:Dickey, Audrey S ; Pineda, Victor V ; Tsunemi, Taiji ; Liu, Patrick P ; Miranda, Helen C ; Gilmore-Hall, Stephen K ; Lomas, Nicole ; Sampat, Kunal R ; Buttgereit, Anne ; Torres, Mark-Joseph Manalang ; Flores, April L ; Arreola, Martin ; Arbez, Nicolas ; Akimov, Sergey S ; Gaasterland, Terry ; Lazarowski, Eduardo R ; Ross, Christopher A ; Yeo, Gene W ; Sopher, Bryce L ; Magnuson, Gavin K ; Pinkerton, Anthony B ; Masliah, Eliezer ; La Spada, Albert R
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2016-01, Vol.22 (1), p.37-45
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Author Correction: Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy
Author / Creator:Badders, Nisha M ; Korff, Ane ; Miranda, Helen C ; Vuppala, Pradeep K ; Smith, Rebecca B ; Winborn, Brett J ; Quemin, Emmanuelle R ; Sopher, Bryce L ; Dearman, Jennifer ; Messing, James ; Kim, Nam Chul ; Moore, Jennifer ; Freibaum, Brian D ; Kanagaraj, Anderson P ; Fan, Baochang ; Tillman, Heather ; Chen, Ping-Chung ; Wang, Yingzhe ; Freeman, Burgess B ; Li, Yimei ; Kim, Hong Joo ; La Spada, Albert R ; Taylor, J. Paul
Publisher:New York: Nature Publishing Group
Journal title:Nature medicine, 2024-03, Vol.30 (3), p.909-910
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ArticlesPeer ReviewedFull Text
Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy
Author / Creator:Badders, Nisha M ; Korff, Ane ; Miranda, Helen C ; Vuppala, Pradeep K ; Smith, Rebecca B ; Winborn, Brett J ; Quemin, Emmanuelle R ; Sopher, Bryce L ; Dearman, Jennifer ; Messing, James ; Kim, Nam Chul ; Moore, Jennifer ; Freibaum, Brian D ; Kanagaraj, Anderson P ; Fan, Baochang ; Tillman, Heather ; Chen, Ping-Chung ; Wang, Yingzhe ; Freeman III, Burgess B. ; Li, Yimei ; Kim, Hong Joo ; La Spada, Albert R ; Taylor, J Paul
Publisher:New York: Springer New York
Journal title:Nature medicine, 2018-04, Vol.24 (4), p.427-437
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Increased vulnerability of hippocampal neurons to excitotoxic necrosis in presenilin-1 mutant knock-in mice
Author / Creator:Guo, Qing ; Fu, Weiming ; Sopher, Bryce L. ; Miller, Miles W. ; Ware, Carol B. ; Martin, George M. ; Mattson, Mark P.
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 1999-01, Vol.5 (1), p.101-106
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Pancreatic β-Cell Failure and Diabetes in Mice With a Deletion Mutation of the Endoplasmic Reticulum Molecular Chaperone Gene P58IPK
Author / Creator:Ladiges, Warren C. ; Knoblaugh, Sue E. ; Morton, John F. ; Korth, Marcus J. ; Sopher, Bryce L. ; Baskin, Carole R. ; MacAuley, Alasdair ; Goodman, Alan G. ; LeBoeuf, Renee C. ; Katze, Michael G.
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2005-04, Vol.54 (4), p.1074-1081
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Neurotrophic Factors [Activity-Dependent Neurotrophic Factor (ADNF) and Basic Fibroblast Growth Factor (bFGF)] Interrupt Excitotoxic Neurodegenerative Cascades Promoted by a PS1 Mutation
Author / Creator:Guo, Qing ; Sebastian, Lois ; Sopher, Bryce L. ; Miller, Miles W. ; Glazner, Gordon W. ; Ware, Carol B. ; Martin, George M. ; Mattson, Mark P.
Publisher:United States: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1999-03, Vol.96 (7), p.4125-4130
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The Purkinje cell degeneration 5J mutation is a single amino acid insertion that destabilizes Nna1 protein
Author / Creator:Chakrabarti, Lisa ; Neal, James T. ; Miles, Michael ; Martinez, Refugio A. ; Smith, Annette C. ; Sopher, Bryce L. ; Spada, Albert R. La
Publisher:United States: Springer Nature B.V
Journal title:Mammalian genome, 2006-02, Vol.17 (2), p.103-110
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Control of PERK eIF2α kinase activity by the endoplasmic reticulum stress-induced molecular chaperone P58IPK
Author / Creator:Yan, Wei ; Frank, Christopher L. ; Korth, Marcus J. ; Sopher, Bryce L. ; Novoa, Isabel ; Ron, David ; Katze, Michael G.
Publisher:National Acad Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2002-12, Vol.99 (25), p.15920-15925
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Selective Modulation of the Androgen Receptor Activation Function-2 Domain Rescues Degeneration in Spinal Bulbar Muscular Atrophy
Author / Creator:Badders, Nisha M ; Korff, Ane ; Miranda, Helen C ; Vuppala, Pradeep K ; Smith, Rebecca B ; Winborn, Brett J ; Quemin, Emmanuelle R ; Sopher, Bryce L ; Dearman, Jennifer ; Messing, James ; Kim, Nam Chul ; Moore, Jennifer ; Freibaum, Brian D ; Kanagaraj, Anderson P ; Fan, Baochang ; Tillman, Heather ; Chen, Ping-Chung ; Wang, Yingzhe ; Freeman, Burgess B ; Li, Yimei ; Kim, Hong Joo ; La Spada, Albert R ; Taylor, J Paul
Journal title:Nature medicine, 2018-03, Vol.24 (4), p.427-437
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PPAR-[delta] is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically
Author / Creator:Dickey, Audrey S ; Pineda, Victor V ; Tsunemi, Taiji ; Liu, Patrick P ; Miranda, Helen C ; Gilmore-hall, Stephen K ; Lomas, Nicole ; Sampat, Kunal R ; Buttgereit, Anne ; Torres, Mark-joseph Manalang ; Flores, April L ; Arreola, Martin ; Arbez, Nicolas ; Akimov, Sergey S ; Gaasterland, Terry ; Lazarowski, Eduardo R ; Ross, Christopher A ; Yeo, Gene W ; Sopher, Bryce L ; Magnuson, Gavin K ; Pinkerton, Anthony B ; Masliah, Eliezer ; La Spada, Albert R
Publisher:New York: Nature Publishing Group
Journal title:Nature medicine, 2016-01, Vol.22 (1), p.37
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PPARδ repression in Huntington’s disease and its essential role in CNS translate into a potent agonist therapy
Author / Creator:Dickey, Audrey S. ; Pineda, Victor V. ; Tsunemi, Taiji ; Liu, Patrick P. ; Miranda, Helen C. ; Gilmore-Hall, Stephen K. ; Lomas, Nicole ; Sampat, Kunal R. ; Buttgereit, Anne ; Torres, Mark-Joseph Manalang ; Flores, April L. ; Arreola, Martin ; Arbez, Nicolas ; Akimov, Sergey S. ; Gaasterland, Terry ; Lazarowski, Eduardo R. ; Ross, Christopher A. ; Yeo, Gene W. ; Sopher, Bryce L. ; Magnuson, Gavin K. ; Pinkerton, Anthony B. ; Masliah, Eliezer ; La Spada, Albert R.
Journal title:Nature medicine, 2015-12, Vol.22 (1), p.37-45
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Polyglutamine-expanded androgen receptor interferes with TFEB to elicit pathological autophagy defects in SBMA
Author / Creator:Cortes, Constanza J. ; Miranda, Helen C. ; Frankowski, Harald ; Batlevi, Yakup ; Young, Jessica E. ; Le, Amy ; Ivanov, Nishi ; Sopher, Bryce L. ; Carromeu, Cassiano ; Muotri, Alysson R. ; Garden, Gwenn A. ; La Spada, Albert R.
Journal title:Nature neuroscience, 2014-08, Vol.17 (9), p.1180-1189
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Muscle expression of mutant androgen receptor protein accounts for systemic and motor neuron disease phenotypes in Spinal & Bulbar Muscular Atrophy
Author / Creator:Cortes, Constanza J. ; Ling, Shuo-Chien ; Guo, Ling T. ; Hung, Gene ; Tsunemi, Taiji ; Ly, Linda ; Tokunaga, Seiya ; Lopez, Edith ; Sopher, Bryce L. ; Bennett, C. Frank ; Shelton, G. Diane ; Cleveland, Don W. ; La Spada, Albert R.
Journal title:Neuron (Cambridge, Mass.), 2014-04, Vol.82 (2), p.295-307
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Showing 1 to 20 of 29 results

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Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy

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Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

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Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport

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Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity

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CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination

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Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology

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Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA

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PPAR-δ is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically

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Author Correction: Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy

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Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy

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Increased vulnerability of hippocampal neurons to excitotoxic necrosis in presenilin-1 mutant knock-in mice

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Pancreatic β-Cell Failure and Diabetes in Mice With a Deletion Mutation of the Endoplasmic Reticulum Molecular Chaperone Gene P58IPK

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Neurotrophic Factors [Activity-Dependent Neurotrophic Factor (ADNF) and Basic Fibroblast Growth Factor (bFGF)] Interrupt Excitotoxic Neurodegenerative Cascades Promoted by a PS1 Mutation

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The Purkinje cell degeneration 5J mutation is a single amino acid insertion that destabilizes Nna1 protein

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Control of PERK eIF2α kinase activity by the endoplasmic reticulum stress-induced molecular chaperone P58IPK

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Selective Modulation of the Androgen Receptor Activation Function-2 Domain Rescues Degeneration in Spinal Bulbar Muscular Atrophy

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PPAR-[delta] is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically

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PPARδ repression in Huntington’s disease and its essential role in CNS translate into a potent agonist therapy

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Polyglutamine-expanded androgen receptor interferes with TFEB to elicit pathological autophagy defects in SBMA

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Muscle expression of mutant androgen receptor protein accounts for systemic and motor neuron disease phenotypes in Spinal & Bulbar Muscular Atrophy

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