Matthew E.R. Butchbach, PhD

Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy.; Scientific Reports; (2023).

Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy; Biology; (2022).

Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression; Molecular Pharmacology; (2022).

Biological networks and complexity in early-onset motor neuron diseases.; Frontiers in Neurology; (2022).

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR; Neurogenetics; (2021).

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).

Spinal Muscular Atrophy Diagnosis and Carrier Screening From Genome Sequencing Data; Genetics in Medicine; (2020).

Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument; Scientific Reports; (2020).

Using Systems Biology and Mathematical Modeling Approaches in the Discovery of Therapeutic Targets for Spinal Muscular Atrophy.; Advances in neurobiology; (2018).

SMN1 and SMN2 copy numbers of commercially available spinal muscular atrophy fibroblast and lymphoblastoid cell lines; Spinal Muscular Atrophy: Diseases Mechanisms and Therapy; (2017).

The effects of C5-substituted 2,4-diaminoquinazolines on selected transcript expression in spinal muscular atrophy cells.; PloS one; (2017).

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.; Neuromuscular disorders : NMD; (2017).

Applicability of digital PCR to the investigation of pediatric-onset genetic disorders.; Biomolecular detection and quantification; (2016).

Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy.; Journal of neuromuscular diseases; (2016).

Identification of early gene expression changes in primary cultured neurons treated with topoisomerase I poisons.; Biochemical and biophysical research communications; (2016).

Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.; Frontiers in Molecular Biosciences; (2016).

Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.; Experimental neurology; (2016).

The effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy.; Neuromuscular disorders : NMD; (2015).

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).

Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells.; PloS one; (2014).

Systems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophy.; PloS one; (2014).

The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice.; Experimental neurology; (2014).

NF-κB-mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia.; The Journal of clinical investigation; (2013).

Trans-splicing, more than meets the eye: multifaceted therapeutics for spinal muscular atrophy.; Human gene therapy; (2011).

Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy.; Biochemical and biophysical research communications; (2009).

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.; Human molecular genetics; (2009).

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).

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).

Let all DNA vote: who are the amyotrophic lateral sclerosis candidates?; Neurology; (2008).

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs.; PloS one; (2007).

Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing.; Human molecular genetics; (2007).

Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy.; Neurobiology of disease; (2007).

A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy.; Journal of neuroscience methods; (2006).

Translational control of glial glutamate transporter EAAT2 expression.; The Journal of biological chemistry; (2006).

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).

Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia.; Cancer cell; (2005).

Perspectives on models of spinal muscular atrophy for drug discovery; Unknown Source; (2004).

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).

Methyl-beta-cyclodextrin but not retinoic acid reduces EAAT3-mediated glutamate uptake and increases GTRAP3-18 expression.; Journal of neurochemistry; (2003).

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).

Molecular cloning, gene structure, expression profile and functional characterization of the mouse glutamate transporter (EAAT3) interacting protein GTRAP3-18.; Gene; (2002).

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).