Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy (Q37006949)

17 August 2017

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy (English)

1 reference

17 August 2017

spinal muscular atrophy

1 reference

Survival of motor neuron 1, telomeric

inferred from title

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GOA release 2020-03-11

6

Michael Krawczak

1 reference

17 August 2017

Gabriela E Oprea

1

1 reference

17 August 2017

Sandra Kröber

2

1 reference

17 August 2017

Michelle L McWhorter

3

1 reference

17 August 2017

Wilfried Rossoll

4

1 reference

17 August 2017

Stefan Müller

5

1 reference

17 August 2017

Gary J Bassell

7

1 reference

17 August 2017

Christine E Beattie

8

1 reference

17 August 2017

Brunhilde Wirth

9

1 reference

17 August 2017

language of work or name

English

0 references

publication date

1 April 2008

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17 August 2017

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17 August 2017

320

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17 August 2017

5875

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17 August 2017

524-527

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Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

Plastins: versatile modulators of actin organization in (patho)physiological cellular processes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

Cytoskeletal Dynamics and Transport in Growth Cone Motility and Axon Guidance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

Differential regulation of human T-plastin gene in leukocytes and non-leukocytes: identification of the promoter, enhancer, and CpG island

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

Correlation between severity and SMN protein level in spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

Identification and characterization of a spinal muscular atrophy-determining gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

Spinal muscular atrophy. 32nd ENMC International Workshop. Naarden, The Netherlands, 10-12 March 1995.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908855

Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18440926

12 December 2020

inferred from PubMed ID database lookup

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18440926

12 December 2020

inferred from PubMed ID database lookup

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18440926

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1126/SCIENCE.1155085

1 reference

17 August 2017

1 reference

17 August 2017

1 reference