Lista de obras -

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2021

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 2002

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado el 2 de febrero de 2011

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

artículo científico publicado en 2014

Translational Control of Glial Glutamate Transporter EAAT2 Expression

artículo científico publicado en 2006

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

artículo científico publicado en 2018

Lista de obras de

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

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

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

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

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

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

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

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

Translational Control of Glial Glutamate Transporter EAAT2 Expression

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