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

scientific article published on 02 May 2013

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.3109/21678421.2013.787630
P932PMC publication ID3923463
P698PubMed publication ID23634771

P50authorRosa RademakersQ28777946
Dennis W. DicksonQ30504740
Keith A JosephsQ90859127
Neill R Graff-RadfordQ91360658
Kevin B BoylanQ114292171
Marka van BlitterswijkQ40284821
Kevin F. BieniekQ55686024
Ronald C. PetersenQ56839853
David S KnopmanQ63967707
Zbigniew K WszolekQ64754704
Bradley F BoeveQ67501037
P2093author name stringRichard Caselli
Matthew C Baker
P2860cites workPhosphorylation of profilin by ROCK1 regulates polyglutamine aggregationQ24324878
In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assemblyQ24533110
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisQ24619298
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSQ24633692
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTDQ24634583
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosisQ28131672
Actin polymerizability is influenced by profilin, a low molecular weight protein in non-muscle cellsQ28254284
Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteriaQ29614410
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosisQ29619074
Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a reviewQ33726688
Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's DiseaseQ33955976
Crystallization of a non-muscle actinQ67827151
A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gemsQ73297574
Profilin I colocalizes with speckles and Cajal bodies: a possible role in pre-mRNA splicingQ73348995
Actin and myosin as transcription factorsQ34496916
Actin and ARPs: action in the nucleus.Q35861637
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementiaQ36545017
The profile of profilinsQ36903642
Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicityQ37164410
How depolymerization can promote polymerization: the case of actin and profilinQ37606397
RNA processing pathways in amyotrophic lateral sclerosisQ37720436
Phenotypic signatures of genetic frontotemporal dementiaQ37944092
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?Q37944428
How do the RNA-binding proteins TDP-43 and FUS relate to amyotrophic lateral sclerosis and frontotemporal degeneration, and to each other?Q38049993
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?Q38060527
Profilins as regulators of actin dynamicsQ41669121
Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendationsQ41942745
Evidence for an oligogenic basis of amyotrophic lateral sclerosisQ42650955
Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin.Q43630199
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in FranceQ44897275
Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.Q45907822
Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patientsQ46450962
A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.Q46564145
The Drosophila fragile X mental retardation protein controls actin dynamics by directly regulating profilin in the brainQ47070176
Apolipoprotein E ε4 and age effects on florbetapir positron emission tomography in healthy aging and Alzheimer diseaseQ48493687
FMRP regulates the transition from radial glial cells to intermediate progenitor cells during neocortical development.Q51817294
Frontotemporal dementia.Q53577166
SMN deficiency attenuates migration of U87MG astroglioma cells through the activation of RhoA.Q54540847
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.Q54560146
A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.Q55056826
Amyotrophic lateral sclerosisQ55877676
Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester GroupsQ59549757
P433issue5-6
P921main subjectfrontotemporal dementiaQ18592
dementiaQ83030
amyotrophic lateral sclerosis and frontotemporal dementiaQ3705268
amyotrophic lateral sclerosisQ206901
P304page(s)463-469
P577publication date2013-05-02
P1433published inAmyotrophic Lateral Sclerosis and Frontotemporal DegenerationQ23928840
P1476titleProfilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia
P478volume14

Reverse relations

cites work (P2860)
Q46130574Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria.
Q38148471Amyotrophic lateral sclerosis: an update on recent genetic insights
Q58488843Cytoskeletal changes in diseases of the nervous system
Q39384099Familial Amyotrophic Lateral Sclerosis-linked Mutations in Profilin 1 Exacerbate TDP-43-induced Degeneration in the Retina of Drosophila melanogaster through an Increase in the Cytoplasmic Localization of TDP-43.
Q46591159Gain-of-function profilin 1 mutations linked to familial amyotrophic lateral sclerosis cause seed-dependent intracellular TDP-43 aggregation
Q35171073Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.
Q55058560PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis.
Q34424308Profilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics.
Q38889624Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis
Q38964723Profilin1 biology and its mutation, actin(g) in disease
Q34148669Rac1 at the crossroad of actin dynamics and neuroinflammation in Amyotrophic Lateral Sclerosis
Q35818814Structural basis for mutation-induced destabilization of profilin 1 in ALS.
Q39274901The Actin Cytoskeleton in SMA and ALS: How Does It Contribute to Motoneuron Degeneration?
Q90530653The genetics of amyotrophic lateral sclerosis: current insights
Q35752114Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

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