Burnett Lab

Cellular Proteolysis and Neurodegeneration

    
Discovery of a Small Molecule Probe That Post-Translationally Stabilizes the Survival Motor Neuron Protein for the Treatment of Spinal Muscular Atrophy. Rietz A, Li H, Quist KM, Cherry JJ, Lorson CL, Burnett BG, Kern NL4, Calder AN, Fritsche M, Lusic H, Boaler PJ, Choi S, Xing X, Glicksman MA, Cuny GD, Androphy EJ, Hodgetts KJ. J Med Chem. 2017 May 19.
  
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.

Pourshafie N, Lee PR, Chen KL, Harmison GG, Bott LC, Katsuno M, Sobue G, Burnett BG, Fischbeck KH, Rinaldi C. MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy. Molecular Therapy. 2016 May; 24(5):937-45..

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..

H3Africa Consortium, Rotimi C, Abayomi A, Abimiku A, Adabayeri VM, Adebamowo C, Adebiyi E, Ademola AD, Adeyemo A, Adu D, Affolabi D, Agongo G, Ajayi S, Akarolo-Anthony S, Akinyemi R, Akpalu A, Alberts M, Alonso Betancourt O, Alzohairy AM, Ameni G, Amodu O, Anabwani G, Andersen K, Arogundade F, Arulogun O, Asogun D, Bakare R, Balde N, Baniecki ML, Beiswanger C, Benkahla A, Bethke L, Boehnke M, Boima V, Brandful J, Brooks AI, Brosius FC, Brown C, Bucheton B, Burke DT, Burnett BG, Carrington-Lawrence S, Carstens N, et al. Research capacity. Enabling the genomic revolution in Africa. Science. 2014;344(6190):1346-8.

Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, Chen G, Boehm M, Zukosky K, Bocoum N, Meilleur KG, Daou F, Bagayogo K, Coulibaly YI, Diakité M, Fay MP, Lee HS, Saad A, Gribaa M, Singleton AB, Maiga Y, Auh S, Landouré G, Fairhurst RM, Burnett BG, Scholl T, Fischbeck KH.: Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Annals of Neurology, 2014; 75(4):525-32.

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.​ [PDF]

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. [PDF]

Kryndushkin D, Pripuzova N, Burnett BG, and Shewmaker F: Non-targeted identification of prions and amyloid-forming proteins from yeast and mammalian cells. Journal of Biological Chemistry, 2013; 288(38):27100-11.
  
Landouré G, Sullivan J, Johnson JO, Munns CH, Shi Y, Gaudet R, Ludlow C, Fischbeck KH, Traynor B, Burnett BG, Sumner CJ: Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology, 2012;79:192-4.

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.

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.[ PDF]

Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker L, for the NIH Intramural Sequencing Center, Ghezzi D, Zeviani M, Fischbeck KH: Cowchock Syndrome (CMTX4) is associated with apoptosis-inducing factor (AIFM1) mutation. American Journal of Human Genetics 2012; 91(6):1095-102. [PDF]


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. [PDF]

Landoure G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA,  Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ: Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature Genetics 2010;42:170-174. [PDF]

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). [PDF]
  
Burnett BG, Munoz E, Tandon A, Kwon DY, Sumner CJ, Fischbeck KH: Regulation of SMN protein stability. Molecular and Cellular Biology, 2009;29:1107-1115. [PDF]

Kong L, Wang X, Choe DW, Polley M, Burnett BG, Bosch-Marce M, Griffin JW, Rich MM, Sumner CJ: Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. Journal of Neuroscience,  2009;29:842-851.


Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH:  Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Human Molecular Genetics, 2009;18:27-42.

  
Burnett BG, Andrews J, Ranganathan S, Fischbeck KH, Di Prospero NA: Expression of  expanded polyglutamine targets profilin for degradation and alters actin dynamics. Neurobiology of Diseases, 2008;30:365-374. [PDF]

Narver HL, Kong L, Burnett BG, Choe DW, Bosch-Marce M, Taye AA, Eckhaus MA, Sumner CJ: Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition. Annals of Neurology, 2008;64:465-470.
  
Palazzolo I, Burnett BG, Young JE, Brenne PL, La Spada AR, Fischbeck KH, Howell BW, Pennuto M: Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity. Human Molecular Genetics, 2007;16:1593-1603.

Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, Di Prospero NA, Pellizzoni L, Fischbeck KH, Sumner CJ: Trichostatin a increases smn expression and survival in a mouse model of spinal muscular atrophy. Journal of Clinical Investigation, 2007;117:659-671. [PDF]

Bilen J, Liu N, Burnett BG, Pittman RN, Bonini NM: Microrna pathways modulate polyglutamine-induced neurodegeneration. Molecular Cell, 2006;24:157-163. [PDF] 

Burnett BG, Pittman RN: The polyglutamine neurodegenerative protein ataxin 3 regulates aggresome formation. Proceedings of the National Academy of Sciences U S A, 2005;102:4330-4335. [PDF]

Burnett B, Li F, Pittman RN: The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity. Human Molecular Genetics 2003;12:3195-3205. [PDF]