Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects (Q33760559)

29 July 2017

title

Conserved genes act as modifiers of invertebrate SMN loss of function defects (English)

1 reference

29 July 2017

Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects (English)

1 reference

10.1371/JOURNAL.PGEN.1001172

DOI

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

19 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21124729

Spiros Artavanis-Tsakonas

19 November 2024

author

13

object named as

Spyros Artavanis-Tsakonas

1 reference

29 July 2017

12

David Van Vactor

1 reference

29 July 2017

10

John S Satterlee

1 reference

29 July 2017

2

James N. Sleigh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21124729

19 November 2024

4

Howard C. Chang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21124729

19 November 2024

author name string

Maria Dimitriadi

1

1 reference

29 July 2017

Amy Walker

3

1 reference

29 July 2017

Anindya Sen

5

1 reference

29 July 2017

Geetika Kalloo

6

1 reference

29 July 2017

Jevede Harris

7

1 reference

29 July 2017

Tom Barsby

8

1 reference

29 July 2017

Chris Li

11

1 reference

29 July 2017

Melissa B. Walsh

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21124729

19 November 2024

Anne C. Hart

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21124729

19 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21124729

19 November 2024

publication date

28 October 2010

1 reference

full work available at URL

29 July 2017

https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1001172&type=printable

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21124729

https://europepmc.org/articles/PMC2965752

19 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21124729

https://europepmc.org/articles/PMC2965752?pdf=render

19 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21124729

http://dx.plos.org/10.1371/journal.pgen.1001172

19 November 2024

1 reference

10.1371/JOURNAL.PGEN.1001172

DOI

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

19 November 2024

1 reference

29 July 2017

volume

6

1 reference

29 July 2017

issue

10

1 reference

29 July 2017

page(s)

e1001172

1 reference

Creative Commons CC0 License

29 July 2017

copyright license

start time

28 October 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Survival motor neuron protein facilitates assembly of stress granules

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

1 reference

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21 June 2018

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Meiotic pairing and imprinted X chromatin assembly in Caenorhabditis elegans

21 June 2018

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

21 June 2018

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Genome-wide RNAi of C. elegans using the hypersensitive rrf-3 strain reveals novel gene functions

21 June 2018

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

21 June 2018

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Genome-wide RNAi screening in Caenorhabditis elegans

21 June 2018

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Numerous microRNPs in neuronal cells containing novel microRNAs

21 June 2018

1 reference

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Dynamin2 and cortactin regulate actin assembly and filament organization.

21 June 2018

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Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1

21 June 2018

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The SMN complex is associated with snRNPs throughout their cytoplasmic assembly pathway

21 June 2018

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Modulation of recombinant and native neuronal SK channels by the neuroprotective drug riluzole

21 June 2018

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Alix (ALG-2-interacting protein X), a protein involved in apoptosis, binds to endophilins and induces cytoplasmic vacuolization

21 June 2018

1 reference

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The art and design of genetic screens: caenorhabditis elegans

21 June 2018

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miRNPs: a novel class of ribonucleoproteins containing numerous microRNAs

21 June 2018

1 reference

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The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met

21 June 2018

1 reference

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Interactions of phocein with nucleoside-diphosphate kinase, Eps15, and Dynamin I

21 June 2018

1 reference

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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 June 2018

1 reference

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Striatin, a calmodulin-dependent scaffolding protein, directly binds caveolin-1

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

The Eps15 C. elegans homologue EHS-1 is implicated in synaptic vesicle recycling.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Structure and function of the C-terminal PABC domain of human poly(A)-binding protein

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Ingestion of bacterially expressed dsRNAs can produce specific and potent genetic interference in Caenorhabditis elegans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Effectiveness of specific RNA-mediated interference through ingested double-stranded RNA in Caenorhabditis elegans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Animal models of spinal muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

The drosophila melanogaster genome: translation factors and RNA binding proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Pre-messenger RNA processing factors in the Drosophila genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

The glioma-associated protein SETA interacts with AIP1/Alix and ALG-2 and modulates apoptosis in astrocytes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Regulation of G protein-coupled receptor kinases by caveolin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Specific interference by ingested dsRNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Parkinson's disease. First of two parts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Caveolae, Plasma Membrane Microdomains for α-Secretase-mediated Processing of the Amyloid Precursor Protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assembly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Reverse genetics by chemical mutagenesis in Caenorhabditis elegans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

The survival motor neuron protein in spinal muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

When Is a Deletion Not a Deletion? When It Is Converted

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Correlation between severity and SMN protein level in spinal muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

The neurobiology of childhood spinal muscular atrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

A novel calmodulin-binding protein, belonging to the WD-repeat family, is localized in dendrites of a subset of CNS neurons

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Mutations in a C. elegans Gqalpha gene disrupt movement, egg laying, and viability.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Two types of sites required for meiotic chromosome pairing in Caenorhabditis elegans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Actin and fimbrin are required for the internalization step of endocytosis in yeast

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Cross-talk among ROR alpha 1 and the Rev-erb family of orphan nuclear receptors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Identification and characterization of a spinal muscular atrophy-determining gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Fimbrin, a new microfilament-associated protein present in microvilli and other cell surface structures

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Fimbrin is a cytoskeletal protein that crosslinks F-actin in vitro

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

The embryonic cell lineage of the nematode Caenorhabditis elegans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

The genetics of Caenorhabditis elegans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Isolation and characterization of a Drosophila neuropeptide gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

A yeast actin-binding protein is encoded by SAC6, a gene found by suppression of an actin mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Molecular genetics of Drosophila alpha-actinin: mutant alleles disrupt Z disc integrity and muscle insertions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Perturbations of Drosophila alpha-actinin cause muscle paralysis, weakness, and atrophy but do not confer obvious nonmuscle phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Post-embryonic cell lineages of the nematode, Caenorhabditis elegans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells

21 June 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

Neuromuscular defects in a Drosophila survival motor neuron gene mutant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

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/10.1371/JOURNAL.PGEN.1001172

G protein-coupled receptor kinase function is essential for chemosensation in C. elegans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

Targeted gene alteration in Caenorhabditis elegans by gene conversion

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

FMRFamide-like neuropeptides and mechanosensory touch receptor neurons regulate male sexual turning behavior in Caenorhabditis elegans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

Targets of TGF-beta signaling in Caenorhabditis elegans dauer formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

FMRP acts as a key messenger for dopamine modulation in the forebrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

Sm proteins, the constituents of the spliceosome, are components of nuage and mitochondrial cement in Xenopus oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

Disruption of axonal transport and neuronal viability by amyloid precursor protein mutations in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

Riluzole attenuates spinal muscular atrophy disease progression in a mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

Autophagy genes protect against disease caused by polyglutamine expansion proteins in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

ATX-2, the C. elegans ortholog of ataxin 2, functions in translational regulation in the germline

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

Involvement of the conserved adaptor protein Alix in actin cytoskeleton assembly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

Nucleoside diphosphate kinase, a source of GTP, is required for dynamin-dependent synaptic vesicle recycling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

The Drosophila fragile X mental retardation protein controls actin dynamics by directly regulating profilin in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1001172

The genetics of feeding in Caenorhabditis elegans.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965752

Genetic risk assessment in carrier testing for spinal muscular atrophy

30 October 2018

1 reference

12 December 2020

The role of the SMN gene in proximal spinal muscular atrophy

1 reference

12 December 2020

Synaptojanin family members are implicated in endocytic membrane traffic in yeast

1 reference

12 December 2020

Classification of spinal muscular atrophies

1 reference

12 December 2020

F-actin binding and bundling properties of fimbrin, a major cytoskeletal protein of microvillus core filaments

1 reference

12 December 2020

A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS/Riluzole Study Group

1 reference

12 December 2020

Neuroprotective effects of riluzole in ALS CSF toxicity

1 reference

12 December 2020

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

1 reference

12 December 2020

Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity

1 reference

12 December 2020

Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of mutations induced by ethyl methanesulfonate, UV, and trimethylpsoralen in the nematode Caenorhabditis elegans

1 reference

12 December 2020

alpha-Actinin is a potent regulator of G protein-coupled receptor kinase activity and substrate specificity in vitro

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1001172

Identifiers

DOI

1 reference

29 July 2017

1 reference

29 July 2017

1 reference