Matthew Butchbach

TitleVolunteer Faculty
InstitutionThomas Jefferson University
DepartmentFaculty Records
Address833 Chestnut Street
Philadelphia PA 19107
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Lumpkin CJ, Harris AW, Connell AJ, Kirk RW, Whiting JA, Saieva L, Pellizzoni L, Burghes AHM, Butchbach MER. Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy. Sci Rep. 2023 06 26; 13(1):10374. PMID: 37365234.
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    2. Butchbach MER, Scott RC. Biological networks and complexity in early-onset motor neuron diseases. Front Neurol. 2022; 13:1035406. PMID: 36341099.
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    3. Kanda S, Moulton E, Butchbach MER. Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression. Mol Pharmacol. 2022 08; 102(2):92-105. PMID: 35667685.
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    4. Pinto A, Cunha C, Chaves R, Butchbach MER, Adega F. Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy. Biology (Basel). 2022 May 27; 11(6). PMID: 35741345.
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    5. Butchbach MER. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. Int J Mol Sci. 2021 Jul 23; 22(15). PMID: 34360669.
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    6. Stabley DL, Holbrook J, Scavina M, Crawford TO, Swoboda KJ, Robbins KM, Butchbach MER. Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics. 2021 03; 22(1):53-64. PMID: 33415588.
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    7. Jiang L, Lin R, Gallagher S, Zayac A, Butchbach MER, Hung P. Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument. Sci Rep. 2020 11 16; 10(1):19892. PMID: 33199817.
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    8. Chen X, Sanchis-Juan A, French CE, Connell AJ, Delon I, Kingsbury Z, Chawla A, Halpern AL, Taft RJ, Bentley DR, Butchbach MER, Raymond FL, Eberle MA. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med. 2020 05; 22(5):945-953. PMID: 32066871.
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    9. Butchbach MER. Using Systems Biology and Mathematical Modeling Approaches in the Discovery of Therapeutic Targets for Spinal Muscular Atrophy. Adv Neurobiol. 2018; 21:267-281. PMID: 30334226.
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    10. Gentillon C, Connell AJ, Kirk RW, Butchbach MER. The effects of C5-substituted 2,4-diaminoquinazolines on selected transcript expression in spinal muscular atrophy cells. PLoS One. 2017; 12(6):e0180657. PMID: 28662219.
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    11. Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER. Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR. Neuromuscul Disord. 2017 May; 27(5):439-446. PMID: 28284873.
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    12. Edwards JD, Butchbach ME. Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy. J Neuromuscul Dis. 2016 11 29; 3(4):511-515. PMID: 27911337.
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    13. Rossi SL, Lumpkin CJ, Harris AW, Holbrook J, Gentillon C, McCahan SM, Wang W, Butchbach MER. Identification of early gene expression changes in primary cultured neurons treated with topoisomerase I poisons. Biochem Biophys Res Commun. 2016 Oct 14; 479(2):319-324. PMID: 27641670.
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    14. Butchbach ME. Applicability of digital PCR to the investigation of pediatric-onset genetic disorders. Biomol Detect Quantif. 2016 Dec; 10:9-14. PMID: 27990344.
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    15. Butchbach ME. Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases. Front Mol Biosci. 2016; 3:7. PMID: 27014701.
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    16. Butchbach MER, Lumpkin CJ, Harris AW, Saieva L, Edwards JD, Workman E, Simard LR, Pellizzoni L, Burghes AHM. Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy. Exp Neurol. 2016 May; 279:13-26. PMID: 26892876.
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    17. Harris AW, Butchbach ME. The effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy. Neuromuscul Disord. 2015 Sep; 25(9):699-705. PMID: 26055638.
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    18. Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME. SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Mol Genet Genomic Med. 2015 Jul; 3(4):248-57. PMID: 26247043.
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    19. Mack SG, Cook DJ, Dhurjati P, Butchbach ME. Systems Biology Investigation of cAMP Modulation to Increase SMN Levels for the Treatment of Spinal Muscular Atrophy. PLoS One. 2014; 9(12):e115473. PMID: 25514431.
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    20. Maeda M, Harris AW, Kingham BF, Lumpkin CJ, Opdenaker LM, McCahan SM, Wang W, Butchbach ME. Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells. PLoS One. 2014; 9(9):e106818. PMID: 25191843.
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    21. Butchbach ME, Singh J, Gurney ME, Burghes AH. The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice. Exp Neurol. 2014 Jun; 256:1-6. PMID: 24681157.
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    22. He WA, Berardi E, Cardillo VM, Acharyya S, Aulino P, Thomas-Ahner J, Wang J, Bloomston M, Muscarella P, Nau P, Shah N, Butchbach ME, Ladner K, Adamo S, Rudnicki MA, Keller C, Coletti D, Montanaro F, Guttridge DC. NF-?B-mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia. J Clin Invest. 2013 Nov; 123(11):4821-35. PMID: 24084740.
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    23. Butchbach ME. Trans-splicing, more than meets the eye: multifaceted therapeutics for spinal muscular atrophy. Hum Gene Ther. 2011 Feb; 22(2):121-5. PMID: 21288085.
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    24. Butchbach ME, Rose FF, Rhoades S, Marston J, McCrone JT, Sinnott R, Lorson CL. Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Biochem Biophys Res Commun. 2010 Jan 01; 391(1):835-40. PMID: 19945425.
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    25. Butchbach ME, Singh J, Thorsteinsd?ttir M, Saieva L, Slominski E, Thurmond J, Andr?sson T, Zhang J, Edwards JD, Simard LR, Pellizzoni L, Jarecki J, Burghes AH, Gurney ME. Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet. 2010 Feb 01; 19(3):454-67. PMID: 19897588.
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    26. Mattis VB, Butchbach ME, Lorson CL. Detection of human survival motor neuron (SMN) protein in mice containing the SMN2 transgene: applicability to preclinical therapy development for spinal muscular atrophy. J Neurosci Methods. 2008 Oct 30; 175(1):36-43. PMID: 18771690.
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    27. Burghes AH, Butchbach ME. Let all DNA vote: who are the amyotrophic lateral sclerosis candidates? Neurology. 2008 Feb 26; 70(9):662-3. PMID: 18299517.
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    28. Thurmond J, Butchbach ME, Palomo M, Pease B, Rao M, Bedell L, Keyvan M, Pai G, Mishra R, Haraldsson M, Andresson T, Bragason G, Thosteinsdottir M, Bjornsson JM, Coovert DD, Burghes AH, Gurney ME, Singh J. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. J Med Chem. 2008 Feb 14; 51(3):449-69. PMID: 18205293.
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    29. Novoyatleva T, Heinrich B, Tang Y, Benderska N, Butchbach ME, Lorson CL, Lorson MA, Ben-Dov C, Fehlbaum P, Bracco L, Burghes AH, Bollen M, Stamm S. Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing. Hum Mol Genet. 2008 Jan 01; 17(1):52-70. PMID: 17913700.
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    30. Gabanella F, Butchbach ME, Saieva L, Carissimi C, Burghes AH, Pellizzoni L. Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS One. 2007 Sep 26; 2(9):e921. PMID: 17895963.
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    31. Butchbach ME, Edwards JD, Burghes AH. Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis. 2007 Aug; 27(2):207-19. PMID: 17561409.
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    32. Butchbach ME, Edwards JD, Schussler KR, Burghes AH. A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy. J Neurosci Methods. 2007 Apr 15; 161(2):285-90. PMID: 17161463.
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    33. Tian G, Lai L, Guo H, Lin Y, Butchbach ME, Chang Y, Lin CL. Translational control of glial glutamate transporter EAAT2 expression. J Biol Chem. 2007 Jan 19; 282(3):1727-37. PMID: 17138558.
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    34. Acharyya S, Butchbach ME, Sahenk Z, Wang H, Saji M, Carathers M, Ringel MD, Skipworth RJ, Fearon KC, Hollingsworth MA, Muscarella P, Burghes AH, Rafael-Fortney JA, Guttridge DC. Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia. Cancer Cell. 2005 Nov; 8(5):421-32. PMID: 16286249.
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    35. Le TT, Pham LT, Butchbach ME, Zhang HL, Monani UR, Coovert DD, Gavrilina TO, Xing L, Bassell GJ, Burghes AH. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet. 2005 Mar 15; 14(6):845-57. PMID: 15703193.
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    36. Butchbach ME, Tian G, Guo H, Lin CL. Association of excitatory amino acid transporters, especially EAAT2, with cholesterol-rich lipid raft microdomains: importance for excitatory amino acid transporter localization and function. J Biol Chem. 2004 Aug 13; 279(33):34388-96. PMID: 15187084.
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    37. Guo H, Lai L, Butchbach ME, Stockinger MP, Shan X, Bishop GA, Lin CL. Increased expression of the glial glutamate transporter EAAT2 modulates excitotoxicity and delays the onset but not the outcome of ALS in mice. Hum Mol Genet. 2003 Oct 01; 12(19):2519-32. PMID: 12915461.
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    38. Butchbach ME, Guo H, Lin CL. Methyl-beta-cyclodextrin but not retinoic acid reduces EAAT3-mediated glutamate uptake and increases GTRAP3-18 expression. J Neurochem. 2003 Feb; 84(4):891-4. PMID: 12562531.
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    39. Guo H, Lai L, Butchbach ME, Lin CL. Human glioma cells and undifferentiated primary astrocytes that express aberrant EAAT2 mRNA inhibit normal EAAT2 protein expression and prevent cell death. Mol Cell Neurosci. 2002 Dec; 21(4):546-60. PMID: 12504589.
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    40. Butchbach ME, Lai L, Lin CL. Molecular cloning, gene structure, expression profile and functional characterization of the mouse glutamate transporter (EAAT3) interacting protein GTRAP3-18. Gene. 2002 Jun 12; 292(1-2):81-90. PMID: 12119102.
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