(Q39398228)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

main subject

spinal muscular atrophy

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Adele Finardi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Francesca Colciaghi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

author name string

Paolo d'Errico

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Silvia Capra

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Veronica Setola

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Mineko Terao

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Enrico Garattini

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Giorgio Battaglia

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

language of work or name

English

0 references

publication date

14 March 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurochemistry

22 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

page(s)

465-474

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22324632%20AND%20SRC:MED&resulttype=core&format=json

Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits.

22 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Neuroblastoma x spinal cord (NSC) hybrid cell lines resemble developing motor neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Clinical and molecular genetic features of congenital spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Embryonic motor axon development in the severe SMA mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Immunocytochemical and ultrastructural studies of Werdnig-Hoffmann disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Stat5 constitutive activation rescues defects in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X

Analysis of mutations in the tudor domain of the survival motor neuron protein SMN

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2012.07689.X