The molecular bases of spinal muscular atrophy (Q34699419)

4 August 2017

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title

The molecular bases of spinal muscular atrophy (English)

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4 August 2017

main subject

spinal muscular atrophy

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4

Judith Melki

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4 August 2017

Tony Frugier

1

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4 August 2017

Sophie Nicole

series ordinal

2

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4 August 2017

Carmen Cifuentes-Diaz

series ordinal

3

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4 August 2017

publication date

1 June 2002

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Current Opinion in Genetics & Development

4 August 2017

published in

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4 August 2017

volume

12

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4 August 2017

issue

3

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4 August 2017

page(s)

294-298

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De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

4 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

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7 January 2021

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

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7 January 2021

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Correlation between severity and SMN protein level in spinal muscular atrophy

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

The survival motor neuron protein in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

A novel nuclear structure containing the survival of motor neurons protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

SMN, the product of the spinal muscular atrophy gene, binds preferentially to dimethylarginine-containing protein targets

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

The survival motor neuron protein interacts with the transactivator FUSE binding protein from human fetal brain

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

A functional interaction between the survival motor neuron complex and RNA polymerase II

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

A mouse model for spinal muscular atrophy

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Constitutive muscular abnormalities in culture in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Doxycycline-mediated quantitative and tissue-specific control of gene expression in transgenic mice

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https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Treatment of spinal muscular atrophy by sodium butyrate

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Muscle regeneration by bone marrow-derived myogenic progenitors

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

From marrow to brain: expression of neuronal phenotypes in adult mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Multi-organ, multi-lineage engraftment by a single bone marrow-derived stem cell

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900301-5

7 January 2021

10.1016/S0959-437X(02)00301-5

Identifiers

DOI

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4 August 2017

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