Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy (Q46825195)

25 December 2017

title

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy (English)

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25 December 2017

main subject

spinal muscular atrophy

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Lars Brichta

1

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25 December 2017

Lutz Garbes

2

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25 December 2017

Maria Jedrzejowska

3

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25 December 2017

Sushma-Nagaraja Grellscheid

4

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25 December 2017

Irmgard Holker

5

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Katharina Zimmermann

6

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Brunhilde Wirth

7

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25 December 2017

publication date

3 January 2008

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25 December 2017

published in

Human Genetics

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25 December 2017

volume

123

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25 December 2017

issue

2

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25 December 2017

page(s)

141-153

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25 December 2017

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

cites work

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12 December 2020

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

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12 December 2020

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

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12 December 2020

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

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12 December 2020

Nonsense-mediated mRNA decay in mammals

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12 December 2020

Early nonsense: mRNA decay solves a translational problem

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12 December 2020

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

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12 December 2020

SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.

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12 December 2020

SMN oligomerization defect correlates with spinal muscular atrophy severity

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12 December 2020

Nonsense-mediated mRNA decay in health and disease

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12 December 2020

Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin

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12 December 2020

The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells

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12 December 2020

A new function for nonsense-mediated mRNA-decay factors

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12 December 2020

Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of ullrich disease fibroblasts

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12 December 2020

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

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12 December 2020

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

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12 December 2020

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

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12 December 2020

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

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12 December 2020

Chronic childhood spinal muscular atrophy in Germany (West-Thüringen)--an epidemiological study

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12 December 2020

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

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12 December 2020

Expression of mutant JAGGED1 alleles in patients with Alagille syndrome

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12 December 2020

SC35 autoregulates its expression by promoting splicing events that destabilize its mRNAs

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12 December 2020

Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen).

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12 December 2020

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

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12 December 2020

Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene?

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12 December 2020

Spinal muscular atrophy: from gene to therapy

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12 December 2020

A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

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12 December 2020

Identification and characterization of a spinal muscular atrophy-determining gene

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12 December 2020

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

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12 December 2020

Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts

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12 December 2020

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

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12 December 2020

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

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12 December 2020

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations

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12 December 2020

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

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12 December 2020

10.1007/S00439-007-0455-7

Identifiers

DOI

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25 December 2017

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25 December 2017