Barrington G. Burnett
EducationPhD (Pharmacology) - University of Pennsylvania, Philadelphia, PA, 2005
MA (Chemistry) - Temple University, Philadelphia, PA, 2000
BS (Chemistry) - Temple University, Philadelphia, PA, 1998
BiographyThe primary research goal of the lab is to identify the genetic causes and clarify the molecular mechanisms underlying neurodegenerative diseases. Using a combination of cell and molecular biology approaches we investigate how changes to cellular protein homeostasis impact human diseases.
Current research projects include (i) elucidating the signaling cascade that modulate the stability of the survival motor neuron (SMN) protein, which is deficient in spinal muscular atrophy (SMA), (ii) investigating the role of proteasome dynamics in traumatic brain injury, (iii) identifying small molecule therapeutics to treat neurological disorders using mouse models and (iv) identifying new genes associated with hereditary neurological disorders. These projects are designed to reveal novel clinical entities and therapeutic targets for treating disorders of the nervous system.
Moritz KE, McCormack NM, Abera MB, Viollet C, Yauger YJ, Sukumar G, Dalgard CL, Burnett BG. The role of the immunoproteasome in interferon--mediated microglial activation. Scientific Reports, 2017 Aug 24;7(1):9365.
Abera MB, Xiao J, Nofziger J, Titus S, Southall N, Zheng W, Moritz KE, Ferrer M, Cherry JJ, Androphy EJ, Wang A, Xu X, Austin C, Fischbeck KH, Marugan JJ, Burnett BG. ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice. JCI Insight. 2016 Nov 17;1(19):e88427.
Foran E, Kwon DY, Nofziger JH, Arnold ES, Hall MD, Fischbeck KH, Burnett BG. CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: Implications for spinal muscular atrophy. Neurobiology of Diseases. 2016; Apr;88:118-24.
Bricceno KV, Martinez T, Leikina E, Duguez S, Partridge TA, Chernomordik LV, Fischbeck KH, Sumner CJ, Burnett BG. Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. Human Molecular Genetics, 2014; 23(18):4745-57.
Landouré G, Zhu P, Johnson JO, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Ishiura H, Hein N, Stoll M, Britton A, Züchner S, Fink J, Nicholson G, Durr A, Stevanin G, Biesecker L for the NIH Intramural Sequencing Center, Tsuji S, Traynor BJ, Traoré M, Blackstone C, Fischbeck KH, Burnett BG: Mutation in C19orf12 causes hereditary spastic paraplegia type 43. Human Mutation, 2013; 34(10):1357-60.
Kwon DY, Dimitriadi M, Cable C, Hart AC, Chitnis A, Fischbeck KH, Burnett BG: The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein. Molecular Biology of the Cell, 2012; 24(12):1863-71.
Bricceno K, Sampognaro PJ, Van Meerbeke JP, Sumner CJ, Fischbeck KH, Burnett BG: Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. Human Molecular Genetics 2012; 21, 4448-4459.
Landouré G, Knight M, Stanescu H, Taye AA, Shi Y, Hernandez D, Elkahloun A, Vincent A, Willcox N, Kleta R, Fischbeck KH, Burnett BG: A candidate gene for autoimmune myasthenia gravis. Neurology, 2012;79:342-347.
Kwon DY, Motley WW, Fischbeck KH, Burnett BG: Increasing expression and decreasing degradation of smn ameliorate the spinal muscular atrophy phenotype in mice. Human Molecular Genetics 2011;20:3667-3677. (*cover illustration)