(Q37582162)

21 August 2017

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

1 reference

amyotrophic lateral sclerosis and frontotemporal dementia

21 August 2017

0 references

amyotrophic lateral sclerosis

0 references

dementia

0 references

frontotemporal dementia

1 reference

12

1 reference

21 August 2017

Marka van Blitterswijk

1

Marka van Blitterswijk

0 references

Kevin F. Bieniek

Kevin F Bieniek

3

0 references

Zbigniew K Wszolek

8

Zbigniew K Wszolek

1 reference

21 August 2017

13

Rosa Rademakers

1 reference

21 August 2017

4

David S Knopman

1 reference

21 August 2017

6

Bradley Boeve

1 reference

21 August 2017

9

Ronald Petersen

1 reference

21 August 2017

Neill R Graff-Radford

10

Neill R Graff-Radford

1 reference

21 August 2017

5

Keith A Josephs

1 reference

21 August 2017

11

Kevin B Boylan

1 reference

21 August 2017

Matthew C Baker

2

1 reference

21 August 2017

Richard Caselli

7

1 reference

21 August 2017

2 May 2013

1 reference

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

21 August 2017

1 reference

21 August 2017

14

1 reference

21 August 2017

5-6

1 reference

21 August 2017

463-469

1 reference

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

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

RNA processing pathways in amyotrophic lateral sclerosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

How depolymerization can promote polymerization: the case of actin and profilin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

23 August 2017

The profile of profilins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Actin and myosin as transcription factors

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Actin and ARPs: action in the nucleus.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Actin polymerizability is influenced by profilin, a low molecular weight protein in non-muscle cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

How do the RNA-binding proteins TDP-43 and FUS relate to amyotrophic lateral sclerosis and frontotemporal degeneration, and to each other?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Phenotypic signatures of genetic frontotemporal dementia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

SMN deficiency attenuates migration of U87MG astroglioma cells through the activation of RhoA.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

FMRP regulates the transition from radial glial cells to intermediate progenitor cells during neocortical development.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

1 September 2018

Frontotemporal dementia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

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 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Profilins as regulators of actin dynamics

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923463

Amyotrophic lateral sclerosis

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.3109%2F21678421.2013.787630

Apolipoprotein E ε4 and age effects on florbetapir positron emission tomography in healthy aging and Alzheimer disease.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.3109%2F21678421.2013.787630

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

21 January 2018

1 reference

12 December 2020

Profilin I colocalizes with speckles and Cajal bodies: a possible role in pre-mRNA splicing

1 reference

12 December 2020

Crystallization of a non-muscle actin

1 reference

12 December 2020

Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups

1 reference

12 December 2020

10.3109/21678421.2013.787630

Identifiers

DOI

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

23634771

1 reference