Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs (Q33300324)

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English	Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs	scientific article

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8 January 2020

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs (English)

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8 January 2020

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spinal muscular atrophy

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ribonucleoprotein complex

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muscular atrophy

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Claudia Carissimi

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8 January 2020

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8 January 2020

Livio Pellizzoni

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8 January 2020

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Francesca Gabanella

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8 January 2020

Matthew E R Butchbach

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8 January 2020

Luciano Saieva

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8 January 2020

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26 September 2007

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8 January 2020

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8 January 2020

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8 January 2020

e921

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8 January 2020

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Creative Commons Attribution 4.0 International

26 September 2007

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11 June 2022

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CZ Software Mentions: A large dataset of software mentions in the biomedical literature

Chaperoning ribonucleoprotein biogenesis in health and disease

1 reference

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21 June 2018

A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle.

1 reference

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21 June 2018

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

1 reference

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21 June 2018

Non-coding RNAs: lessons from the small nuclear and small nucleolar RNAs

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21 June 2018

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

1 reference

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21 June 2018

Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy.

1 reference

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21 June 2018

U12DB: a database of orthologous U12-type spliceosomal introns

1 reference

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21 June 2018

Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy.

1 reference

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21 June 2018

Gemin8 is required for the architecture and function of the survival motor neuron complex

1 reference

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21 June 2018

Autoimmune channelopathies and related neurological disorders

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21 June 2018

Splicing regulation in neurologic disease

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21 June 2018

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21 June 2018

Therapeutics development for spinal muscular atrophy

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21 June 2018

Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly

1 reference

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21 June 2018

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

1 reference

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21 June 2018

Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976558

21 June 2018

The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.

1 reference

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21 June 2018

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

1 reference

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21 June 2018

Inherited disorders of voltage-gated sodium channels

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21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976558

21 June 2018

snRNAs contain specific SMN-binding domains that are essential for snRNP assembly

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976558

21 June 2018

Ca2+ channels as targets of neurological disease: Lambert-Eaton Syndrome and other Ca2+ channelopathies

1 reference

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21 June 2018

Splicing double: insights from the second spliceosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976558

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976558

21 June 2018

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976558

21 June 2018

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

1 reference

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21 June 2018

Pre-mRNA splicing: awash in a sea of proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976558

21 June 2018

Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.

1 reference

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21 June 2018

Pre-mRNA splicing and human disease

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21 June 2018

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

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21 June 2018

Essential role for the SMN complex in the specificity of snRNP assembly

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21 June 2018

SMN-mediated assembly of RNPs: a complex story

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976558

21 June 2018

The splicing of U12-type introns can be a rate-limiting step in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976558

21 June 2018

The molecular bases of spinal muscular atrophy

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21 June 2018

The SMN complex, an assemblyosome of ribonucleoproteins

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21 June 2018

A computational scan for U12-dependent introns in the human genome sequence

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21 June 2018

SMN interacts with a novel family of hnRNP and spliceosomal proteins

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21 June 2018

Molecular mechanisms in spinal muscular atrophy: models and perspectives

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21 June 2018

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

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

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21 June 2018

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

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21 June 2018

A mouse model for spinal muscular atrophy

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21 June 2018

Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy

1 reference

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21 June 2018

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

1 reference

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21 June 2018

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

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21 June 2018

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

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21 June 2018

AT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes

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21 June 2018

CRM1 is an export receptor for leucine-rich nuclear export signals

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21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976558

21 June 2018

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

1 reference

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21 June 2018

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

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21 June 2018

The survival motor neuron protein in spinal muscular atrophy

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21 June 2018

Correlation between severity and SMN protein level in spinal muscular atrophy

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21 June 2018

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

1 reference

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21 June 2018

The neurobiology of childhood spinal muscular atrophy.

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21 June 2018

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976558

21 June 2018

Additional low-abundance human small nuclear ribonucleoproteins: U11, U12, etc

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21 June 2018

A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs

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21 January 2018

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

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21 January 2018

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

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21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17895963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of transgene copy number on survival in the G93A SOD1 transgenic mouse model of ALS

1 reference

https://pubmed.ncbi.nlm.nih.gov/17895963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17895963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gemins modulate the expression and activity of the SMN complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/17895963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gemin2 plays an important role in stabilizing the survival of motor neuron complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/17895963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1

1 reference

https://pubmed.ncbi.nlm.nih.gov/17895963

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1371/JOURNAL.PONE.0000921

1 reference

Europe PubMed Central

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8 January 2020

2007PLoSO...2..921G

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8 January 2020

PubMed publication ID

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Europe PubMed Central

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8 January 2020

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