(Q36119636)

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A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects.

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scholarly article

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8 February 2020

A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects (English)

1 reference

Europe PubMed Central

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8 February 2020

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spinal muscular atrophy

1 reference

based on heuristic

inferred from title

Survival motor neuron Dmel_CG16725

1 reference

GOA release 2020-03-11

muscular atrophy

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based on heuristic

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A. Gregory Matera

3

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8 February 2020

author name string

Kavita Praveen

1

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8 February 2020

Ying Wen

2

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8 February 2020

publication date

21 June 2012

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8 February 2020

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8 February 2020

1

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8 February 2020

6

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8 February 2020

624-631

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8 February 2020

describes a project that uses

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11 June 2022

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A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

A role for SMN exon 7 splicing in the selective vulnerability of motor neurons 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=3405901

2 October 2017

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

Gene expression profiling of U12-type spliceosome mutant Drosophila reveals widespread changes in metabolic pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

Spinal muscular atrophy: mechanisms and therapeutic strategies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

Evolutionary dynamics of U12-type spliceosomal introns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

Regulation of SMN protein stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

Gemin3 is an essential gene required for larval motor function and pupation in Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

Modeling spinal muscular atrophy in Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

An optimized transgenesis system for Drosophila using germ-line-specific phiC31 integrases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

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=3405901

2 October 2017

Genetic deletion of the repressor of estrogen receptor activity (REA) enhances the response to estrogen in target tissues in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

Spinal muscular atrophy: molecular genetics and diagnostics.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

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=3405901

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

The divergent U12-type spliceosome is required for pre-mRNA splicing and is essential for development in Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

2 October 2017

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=3405901

2 October 2017

SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

23 September 2018

A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

23 September 2018

Developmental control of foraging and social behavior by the Drosophila neuropeptide Y-like system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

23 September 2018

Neuromuscular defects in a Drosophila survival motor neuron gene mutant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

23 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3405901

23 September 2018

Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology

1 reference

https://pubmed.ncbi.nlm.nih.gov/22813737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A comparison of the neuronal dysfunction caused by Drosophila tau and human tau in a Drosophila model of tauopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/22813737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytoplasmic assembly of snRNP particles from stored proteins and newly transcribed snRNA's in L929 mouse fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/22813737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

https://pubmed.ncbi.nlm.nih.gov/22813737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.CELREP.2012.05.014

1 reference

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8 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22813737%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22813737%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

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