Matthew E.R. Butchbach, PhD
Research Scientist- Motor Neuron
- Motor Neuron Disease
- Network Biology
- Neurogenetics
- Peripheral Neuropathy
- Preclinical Trials
- Spinal Muscular Atrophy
- Translational Neuroscience
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Multi-indication therapeutics strategies for early-onset motor neuron diseases; Unknown Source; (2024).
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Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy.; Scientific Reports; (2023).
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Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy; Biology; (2022).
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Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression; Molecular Pharmacology; (2022).
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Biological networks and complexity in early-onset motor neuron diseases.; Frontiers in Neurology; (2022).
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Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR; Neurogenetics; (2021).
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Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development; International Journal of Molecular Sciences; (2021).
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Spinal Muscular Atrophy Diagnosis and Carrier Screening From Genome Sequencing Data; Genetics in Medicine; (2020).
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Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument; Scientific Reports; (2020).
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Using Systems Biology and Mathematical Modeling Approaches in the Discovery of Therapeutic Targets for Spinal Muscular Atrophy.; Advances in neurobiology; (2018).
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The effects of C5-substituted 2,4-diaminoquinazolines on selected transcript expression in spinal muscular atrophy cells.; PloS one; (2017).
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Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.; Neuromuscular disorders : NMD; (2017).
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SMN1 and SMN2 copy numbers of commercially available spinal muscular atrophy fibroblast and lymphoblastoid cell lines; Spinal Muscular Atrophy: Diseases Mechanisms and Therapy; (2017).
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Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy.; Journal of neuromuscular diseases; (2016).
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Applicability of digital PCR to the investigation of pediatric-onset genetic disorders.; Biomolecular detection and quantification; (2016).
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Identification of early gene expression changes in primary cultured neurons treated with topoisomerase I poisons.; Biochemical and biophysical research communications; (2016).
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Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.; Frontiers in Molecular Biosciences; (2016).
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Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.; Experimental neurology; (2016).
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The effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy.; Neuromuscular disorders : NMD; (2015).
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SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.; Molecular Genetics & Genomic Medicine; (2015).
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Systems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophy.; PloS one; (2014).
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Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells.; PloS one; (2014).
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The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice.; Experimental neurology; (2014).
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NF-κB-mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia.; The Journal of clinical investigation; (2013).
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Trans-splicing, more than meets the eye: multifaceted therapeutics for spinal muscular atrophy.; Human gene therapy; (2011).
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Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.; Human molecular genetics; (2009).
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Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy.; Biochemical and biophysical research communications; (2009).
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Let all DNA vote: who are the amyotrophic lateral sclerosis candidates?; Neurology; (2008).
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Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.; Journal of medicinal chemistry; (2008).
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Detection of human survival motor neuron (SMN) protein in mice containing the SMN2 transgene: applicability to preclinical therapy development for spinal muscular atrophy.; Journal of neuroscience methods; (2008).
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Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy.; Neurobiology of disease; (2007).
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Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs.; PloS one; (2007).
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Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing.; Human molecular genetics; (2007).
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Translational control of glial glutamate transporter EAAT2 expression.; The Journal of biological chemistry; (2006).
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A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy.; Journal of neuroscience methods; (2006).
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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.; Human molecular genetics; (2005).
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Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia.; Cancer cell; (2005).
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Perspectives on models of spinal muscular atrophy for drug discovery; Unknown Source; (2004).
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Association of excitatory amino acid transporters, especially EAAT2, with cholesterol-rich lipid raft microdomains: importance for excitatory amino acid transporter localization and function.; The Journal of biological chemistry; (2004).
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Increased expression of the glial glutamate transporter EAAT2 modulates excitotoxicity and delays the onset but not the outcome of ALS in mice.; Human molecular genetics; (2003).
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Methyl-beta-cyclodextrin but not retinoic acid reduces EAAT3-mediated glutamate uptake and increases GTRAP3-18 expression.; Journal of neurochemistry; (2003).
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Human glioma cells and undifferentiated primary astrocytes that express aberrant EAAT2 mRNA inhibit normal EAAT2 protein expression and prevent cell death.; Molecular and cellular neurosciences; (2002).
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Molecular cloning, gene structure, expression profile and functional characterization of the mouse glutamate transporter (EAAT3) interacting protein GTRAP3-18.; Gene; (2002).
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