(Q35171073)

6 August 2017

title

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS. (English)

1 reference

amyotrophic lateral sclerosis

6 August 2017

main subject

1 reference

Chun Hao Wong

5

0 references

Emma Scotter

Emma L Scotter

3

0 references

Simon Topp

Simon Topp

6

0 references

Bradley N. Smith

Bradley N Smith

1

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Nicola Ticozzi

Nicola Ticozzi

12

0 references

Caroline Vance

Caroline Vance

2

0 references

Claire Troakes

Claire Troakes

4

0 references

Vincenzo Silani

Vincenzo Silani

13

0 references

Ammar Al-Chalabi

11

Ammar Al-Chalabi

1 reference

6 August 2017

15

Robert H Brown

1 reference

6 August 2017

16

John E Landers

1 reference

6 August 2017

Satomi Maekawa

7

1 reference

6 August 2017

Andrew King

8

1 reference

6 August 2017

Jacqueline C Mitchell

9

1 reference

6 August 2017

Karan Lund

10

1 reference

6 August 2017

Peter Sapp

14

1 reference

6 August 2017

Safa Al-Sarraj

17

1 reference

6 August 2017

Christopher E Shaw

18

1 reference

6 August 2017

publication date

31 October 2014

1 reference

6 August 2017

published in

Neurobiology of Aging

1 reference

6 August 2017

volume

36

1 reference

6 August 2017

issue

3

1 reference

6 August 2017

page(s)

1602.e17-27

1 reference

describes a project that uses

6 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4357530/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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1 reference

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Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

Predicting the functional effect of amino acid substitutions and indels

28 July 2018

1 reference

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28 July 2018

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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

28 July 2018

1 reference

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Evidence for an oligogenic basis of amyotrophic lateral sclerosis

28 July 2018

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Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

28 July 2018

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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

28 July 2018

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28 July 2018

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28 July 2018

1 reference

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Protein quality control during aging involves recruitment of the macroautophagy pathway by BAG3

28 July 2018

1 reference

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A three-state prediction of single point mutations on protein stability changes.

28 July 2018

1 reference

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28 July 2018

1 reference

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Versailles minimal dataset for diagnosis of ALS: a distillate of the 2nd Consensus Conference on accelerating the diagnosis of ALS. Versailles 2nd Consensus Conference participants

28 July 2018

1 reference

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Predicting deleterious amino acid substitutions

28 July 2018

1 reference

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Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

28 July 2018

1 reference

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

28 July 2018

1 reference

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Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis

28 July 2018

1 reference

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PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis

27 September 2018

1 reference

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Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

Defining and searching for structural motifs using DeepView/Swiss-PdbViewer

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

Differential activities of the ubiquitin-proteasome system in neurons versus glia may account for the preferential accumulation of misfolded proteins in neurons

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4357530

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25499087

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEUROBIOLAGING.2014.10.032

1 reference

6 August 2017

1 reference

6 August 2017

1 reference