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List of works by Matthew E R Butchbach

A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy

scientific article

Applicability of digital PCR to the investigation of pediatric-onset genetic disorders

scientific article

Association of excitatory amino acid transporters, especially EAAT2, with cholesterol-rich lipid raft microdomains: importance for excitatory amino acid transporter localization and function.

scientific article

Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases

scientific article

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

scientific article published on 07 January 2021

Dystrophin glycoprotein complex dysfunction: A regulatory link between muscular dystrophy and cancer cachexia

scientific article published on 01 November 2005

Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy

scientific article

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

scientific article

Identification of early gene expression changes in primary cultured neurons treated with topoisomerase I poisons

scientific article published on 15 September 2016

Methyl-beta-cyclodextrin but not retinoic acid reduces EAAT3-mediated glutamate uptake and increases GTRAP3-18 expression

scientific article (publication date: February 2003)

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

scientific article (publication date: 12 June 2002)

NF-κB-mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia

scientific article

Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.

scientific article

Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing.

scientific article published on 02 October 2007

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

scientific article published on 21 March 2015

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

scientific article published on 09 February 2005

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

scientific article published on 18 February 2020

Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.

scientific article published on 19 January 2008

Systems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophy

scientific article published on 16 December 2014

The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice.

scientific article

The effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy

scientific article

The effects of C5-substituted 2,4-diaminoquinazolines on selected transcript expression in spinal muscular atrophy cells

scientific article published on 29 June 2017

Trans-Splicing, More Than Meets the Eye: Multifaceted Therapeutics for Spinal Muscular Atrophy

scientific article published on 02 February 2011

Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells

scientific article

Translational Control of Glial Glutamate Transporter EAAT2 Expression

scientific article published in Journal of Biological Chemistry

Using Systems Biology and Mathematical Modeling Approaches in the Discovery of Therapeutic Targets for Spinal Muscular Atrophy

scientific article published on 01 January 2018