The polyglutamine neurodegenerative protein ataxin 3 regulates aggresome formation

Por Burnett, Barrington G., Pittman, Randall N.
Publicado em 2005

Neurogenic and Myogenic Contributions to Hereditary Motor Neuron Disease

Por Bricceno, Katherine V., Fischbeck, Kenneth H., Burnett, Barrington G.
Publicado em 2012

Non-targeted Identification of Prions and Amyloid-forming Proteins from Yeast and Mammalian Cells

Por Kryndushkin, Dmitry, Pripuzova, Natalia, Burnett, Barrington G., Shewmaker, Frank
Publicado em 2013

Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice

Por Kwon, Deborah Y., Motley, William W., Fischbeck, Kenneth H., Burnett, Barrington G.
Publicado em 2011

Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics

Por Burnett, Barrington G., Andrews, Jaime, Ranganathan, Srikanth, Fischbeck, Kenneth H., Di Prospero, Nicholas A.
Publicado em 2008

Mitochondrial abnormalities in spinal and bulbar muscular atrophy

Por Ranganathan, Srikanth, Harmison, George G., Meyertholen, Kristin, Pennuto, Maria, Burnett, Barrington G., Fischbeck, Kenneth H.
Publicado em 2009

Regulation of SMN Protein Stability

Por Burnett, Barrington G., Muñoz, Eric, Tandon, Animesh, Kwon, Deborah Y., Sumner, Charlotte J., Fischbeck, Kenneth H.
Publicado em 2009

Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice

Por Bricceno, Katherine V., Sampognaro, Paul J., Van Meerbeke, James P., Sumner, Charlotte J., Fischbeck, Kenneth H., Burnett, Barrington G.
Publicado em 2012

CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy

Por Foran, Emily, Kwon, Deborah Y., Nofziger, Jonathan H., Arnold, Eveline S., Hall, Matthew D., Fischbeck, Kenneth H., Burnett, Barrington G.
Publicado no Neurobiol Dis (2016)

The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein

Por Kwon, Deborah Y., Dimitriadi, Maria, Terzic, Barbara, Cable, Casey, Hart, Anne C., Chitnis, Ajay, Fischbeck, Kenneth H., Burnett, Barrington G.
Publicado em 2013

Genetics and genomic medicine in Mali: challenges and future perspectives

Por Landouré, Guida, Samassékou, Oumar, Traoré, Mahamadou, Meilleur, Katherine G., Guinto, Cheick Oumar, Burnett, Barrington G., Sumner, Charlotte J., Fischbeck, Kenneth H.
Publicado no Mol Genet Genomic Med (2016)

The role of the immunoproteasome in interferon-γ-mediated microglial activation

Por Moritz, Kasey E., McCormack, Nikki M., Abera, Mahlet B., Viollet, Coralie, Yauger, Young J., Sukumar, Gauthaman, Dalgard, Clifton L., Burnett, Barrington G.
Publicado no Sci Rep (2017)

Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice

Por Kong, Lingling, Wang, Xueyong, Choe, Dong W., Polley, Michelle, Burnett, Barrington G., Bosch-Marcé, Marta, Griffin, John W., Rich, Mark M., Sumner, Charlotte J.
Publicado em 2009

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics

Por Bricceno, Katherine V., Martinez, Tara, Leikina, Evgenia, Duguez, Stephanie, Partridge, Terence A., Chernomordik, Leonid V., Fischbeck, Kenneth H., Sumner, Charlotte J., Burnett, Barrington G.
Publicado em 2014

MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy

Por Pourshafie, Naemeh, Lee, Philip R, Chen, Ke-lian, Harmison, George G, Bott, Laura C, Katsuno, Masahisa, Sobue, Gen, Burnett, Barrington G, Fischbeck, Kenneth H, Rinaldi, Carlo
Publicado no Mol Ther (2016)

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy

Por Avila, Amy M., Burnett, Barrington G., Taye, Addis A., Gabanella, Francesca, Knight, Melanie A., Hartenstein, Parvana, Cizman, Ziga, Di Prospero, Nicholas A., Pellizzoni, Livio, Fischbeck, Kenneth H., Sumner, Charlotte J.
Publicado em 2007

Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

Por Rinaldi, Carlo, Grunseich, Christopher, Sevrioukova, Irina F., Schindler, Alice, Horkayne-Szakaly, Iren, Lamperti, Costanza, Landouré, Guida, Kennerson, Marina L., Burnett, Barrington G., Bönnemann, Carsten, Biesecker, Leslie G., Ghezzi, Daniele, Zeviani, Massimo, Fischbeck, Kenneth H.
Publicado em 2012

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Por Landouré, Guida, Sullivan, Jeremy M., Johnson, Janel O., Munns, Clare H., Shi, Yijun, Diallo, Oumarou, Gibbs, J. Raphael, Gaudet, Rachelle, Ludlow, Christy L., Fischbeck, Kenneth H., Traynor, Bryan J., Burnett, Barrington G., Sumner, Charlotte J.
Publicado em 2012

ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice

Por Abera, Mahlet B., Xiao, Jingbo, Nofziger, Jonathan, Titus, Steve, Southall, Noel, Zheng, Wei, Moritz, Kasey E., Ferrer, Marc, Cherry, Jonathan J., Androphy, Elliot J., Wang, Amy, Xu, Xin, Austin, Christopher, Fischbeck, Kenneth H., Marugan, Juan J., Burnett, Barrington G.
Publicado no JCI Insight (2016)

A candidate gene for autoimmune myasthenia gravis

Por Landouré, Guida, Knight, Melanie A., Stanescu, Horia, Taye, Addis A., Shi, Yijun, Diallo, Oumarou, Johnson, Janel O., Hernandez, Dena, Traynor, Bryan J., Biesecker, Leslie G., Elkahloun, Abdel, Rinaldi, Carlo, Vincent, Angela, Willcox, Nick, Kleta, Robert, Fischbeck, Kenneth H., Burnett, Barrington G.
Publicado em 2012