(Q36924727)

17 August 2017

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title

Molecular mechanisms of spinal muscular atrophy (English)

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17 August 2017

spinal muscular atrophy

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Charlotte J Sumner

1

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17 August 2017

1 August 2007

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Journal of Child Neurology

17 August 2017

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17 August 2017

22

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17 August 2017

979-989

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17 August 2017

8

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Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

17 August 2017

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

The survival motor neuron protein in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Correction of disease-associated exon skipping by synthetic exon-specific activators

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Identification of a cis-acting element for the regulation of SMN exon 7 splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulated.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

The role of histone acetylation in SMN gene expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

The SMN complex, an assemblyosome of ribonucleoproteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Why do cells need an assembly machine for RNA-protein complexes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Spliceosomal UsnRNP biogenesis, structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

A mouse model for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Expression of developmentally regulated cytoskeleton and cell surface proteins in childhood spinal muscular atrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Constitutive muscular abnormalities in culture in spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Neuromuscular defects in a Drosophila survival motor neuron gene mutant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Muscle-derived neurotrophin-4 as an activity-dependent trophic signal for adult motor neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Therapeutics development for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Histone deacetylase inhibitors and the promise of epigenetic (and more) treatments for cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Treatment of spinal muscular atrophy by sodium butyrate

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Challenges and opportunities in clinical trials for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Histone deacetylase inhibitors: discovery and development as anticancer agents

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305787

21 January 2018

Identifiers

DOI

10.1177/0883073807305787

1 reference

17 August 2017

1 reference

PubMed ID

17761653