메뉴 건너뛰기




Volumn 34, Issue 7, 2013, Pages 1922.e1-1922.e5

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

Author keywords

Amyotrophic lateral sclerosis; Mutation; Profilin 1 gene

Indexed keywords

ADULT; ALLELE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHINESE; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PATHOGENESIS; PFN1 GENE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEX DIFFERENCE;

EID: 84875840077     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2013.01.013     Document Type: Article
Times cited : (43)

References (45)
  • 7
    • 84864981282 scopus 로고    scopus 로고
    • Familial, environmental, and occupational risk factors in development of amyotrophic lateral sclerosis
    • Das K., Nag C., Ghosh M. Familial, environmental, and occupational risk factors in development of amyotrophic lateral sclerosis. N. Am. J. Med. Sci. 2012, 4:350-355.
    • (2012) N. Am. J. Med. Sci. , vol.4 , pp. 350-355
    • Das, K.1    Nag, C.2    Ghosh, M.3
  • 8
    • 79958262155 scopus 로고    scopus 로고
    • MG132 enhances neurite outgrowth in neurons overexpressing mutant TAR DNA-binding protein-43 via increase of HO-1
    • Duan W., Guo Y., Jiang H., Yu X., Li C. MG132 enhances neurite outgrowth in neurons overexpressing mutant TAR DNA-binding protein-43 via increase of HO-1. Brain Res. 2011, 1397:1-9.
    • (2011) Brain Res. , vol.1397 , pp. 1-9
    • Duan, W.1    Guo, Y.2    Jiang, H.3    Yu, X.4    Li, C.5
  • 9
    • 70450202250 scopus 로고    scopus 로고
    • Clinical and genetic features of patients with sporadic amyotrophic lateral sclerosis in south-west China
    • Fang D.F., Zhang S.S., Guo X.Y., Zeng Y., Yang Y., Zhou D., Shang H.F. Clinical and genetic features of patients with sporadic amyotrophic lateral sclerosis in south-west China. Amyotroph. Lat. Scler. 2009, 10:350-354.
    • (2009) Amyotroph. Lat. Scler. , vol.10 , pp. 350-354
    • Fang, D.F.1    Zhang, S.S.2    Guo, X.Y.3    Zeng, Y.4    Yang, Y.5    Zhou, D.6    Shang, H.F.7
  • 10
  • 12
    • 0033621413 scopus 로고    scopus 로고
    • A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems
    • Giesemann T., Rathke-Hartlieb S., Rothkegel M., Bartsch J.W., Buchmeier S., Jockusch B.M., Jockusch H. A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems. J. Biol. Chem. 1999, 274:37908-37914.
    • (1999) J. Biol. Chem. , vol.274 , pp. 37908-37914
    • Giesemann, T.1    Rathke-Hartlieb, S.2    Rothkegel, M.3    Bartsch, J.W.4    Buchmeier, S.5    Jockusch, B.M.6    Jockusch, H.7
  • 18
    • 70349749966 scopus 로고    scopus 로고
    • The role of environmental mercury, lead and pesticide exposure in development of amyotrophic lateral sclerosis
    • Johnson F.O., Atchison W.D. The role of environmental mercury, lead and pesticide exposure in development of amyotrophic lateral sclerosis. Neurotoxicology 2009, 30:761-765.
    • (2009) Neurotoxicology , vol.30 , pp. 761-765
    • Johnson, F.O.1    Atchison, W.D.2
  • 22
    • 0348011603 scopus 로고    scopus 로고
    • Functions of intermediate filaments in neuronal development and disease
    • Lariviere R.C., Julien J.P. Functions of intermediate filaments in neuronal development and disease. J. Neurobiol. 2004, 58:131-148.
    • (2004) J. Neurobiol. , vol.58 , pp. 131-148
    • Lariviere, R.C.1    Julien, J.P.2
  • 24
    • 84875272260 scopus 로고    scopus 로고
    • Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France
    • Lattante S., Le Ber I., Camuzat A., Brice A., Kabashi E. Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France. Neurobiol. Aging 2012, 10.1016/j.neurobiolaging.2012.10.026.
    • (2012) Neurobiol. Aging
    • Lattante, S.1    Le Ber, I.2    Camuzat, A.3    Brice, A.4    Kabashi, E.5
  • 25
    • 0030710460 scopus 로고    scopus 로고
    • Structure of the profilin-poly-L-proline complex involved in morphogenesis and cytoskeletal regulation
    • Mahoney N.M., Janmey P.A., Almo S.C. Structure of the profilin-poly-L-proline complex involved in morphogenesis and cytoskeletal regulation. Nat. Struct. Biol. 1997, 4:953-960.
    • (1997) Nat. Struct. Biol. , vol.4 , pp. 953-960
    • Mahoney, N.M.1    Janmey, P.A.2    Almo, S.C.3
  • 26
    • 84864935425 scopus 로고    scopus 로고
    • Pesticide exposure as a risk factor for amyotrophic lateral sclerosis: A meta-analysis of epidemiological studies: Pesticide exposure as a risk factor for ALS
    • Malek A.M., Barchowsky A., Bowser R., Youk A., Talbott E.O. Pesticide exposure as a risk factor for amyotrophic lateral sclerosis: A meta-analysis of epidemiological studies: Pesticide exposure as a risk factor for ALS. Environ. Res. 2012, 117:112-119.
    • (2012) Environ. Res. , vol.117 , pp. 112-119
    • Malek, A.M.1    Barchowsky, A.2    Bowser, R.3    Youk, A.4    Talbott, E.O.5
  • 27
    • 16844366080 scopus 로고    scopus 로고
    • Mitochondrial dysfunction and its role in motor neuron degeneration in ALS
    • Manfredi G., Xu Z. Mitochondrial dysfunction and its role in motor neuron degeneration in ALS. Mitochondrion 2005, 5:77-87.
    • (2005) Mitochondrion , vol.5 , pp. 77-87
    • Manfredi, G.1    Xu, Z.2
  • 28
    • 34250209501 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis
    • Mitchell J.D., Borasio G.D. Amyotrophic lateral sclerosis. Lancet 2007, 369:2031-2041.
    • (2007) Lancet , vol.369 , pp. 2031-2041
    • Mitchell, J.D.1    Borasio, G.D.2
  • 29
    • 0022443737 scopus 로고
    • Familial adult motor neuron disease: amyotrophic lateral sclerosis
    • Mulder D.W., Kurland L.T., Offord K.P., Beard C.M. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology 1986, 36:511-517.
    • (1986) Neurology , vol.36 , pp. 511-517
    • Mulder, D.W.1    Kurland, L.T.2    Offord, K.P.3    Beard, C.M.4
  • 30
    • 33747605320 scopus 로고    scopus 로고
    • Molecular biology of amyotrophic lateral sclerosis: insights from genetics
    • Pasinelli P., Brown R.H. Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Rev Neurosci. 2006, 7:710-723.
    • (2006) Nat Rev Neurosci. , vol.7 , pp. 710-723
    • Pasinelli, P.1    Brown, R.H.2
  • 31
    • 70349482318 scopus 로고    scopus 로고
    • Neuronal intermediate filaments and neurodegenerative disorders
    • Perrot R., Eyer J. Neuronal intermediate filaments and neurodegenerative disorders. Brain Res. Bull. 2009, 80:282-295.
    • (2009) Brain Res. Bull. , vol.80 , pp. 282-295
    • Perrot, R.1    Eyer, J.2
  • 32
    • 79951704433 scopus 로고    scopus 로고
    • Neuroinflammation in amyotrophic lateral sclerosis: role of glial activation in motor neuron disease
    • Philips T., Robberecht W. Neuroinflammation in amyotrophic lateral sclerosis: role of glial activation in motor neuron disease. Lancet Neurol. 2011, 10:253-263.
    • (2011) Lancet Neurol. , vol.10 , pp. 253-263
    • Philips, T.1    Robberecht, W.2
  • 34
    • 50249147874 scopus 로고    scopus 로고
    • Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation
    • Shao J., Welch W.J., Diprospero N.A., Diamond M.I. Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation. Mol. Cell Biol. 2008, 28:5196-5208.
    • (2008) Mol. Cell Biol. , vol.28 , pp. 5196-5208
    • Shao, J.1    Welch, W.J.2    Diprospero, N.A.3    Diamond, M.I.4
  • 35
    • 0032538888 scopus 로고    scopus 로고
    • The essential role of profilin in the assembly of actin for microspike formation
    • Suetsugu S., Miki H., Takenawa T. The essential role of profilin in the assembly of actin for microspike formation. EMBO J. 1998, 17:6516-6526.
    • (1998) EMBO J. , vol.17 , pp. 6516-6526
    • Suetsugu, S.1    Miki, H.2    Takenawa, T.3
  • 36
    • 0037072549 scopus 로고    scopus 로고
    • Hsp70 and Hsp40 improve neurite outgrowth and suppress intracytoplasmic aggregate formation in cultured neuronal cells expressing mutant SOD1
    • Takeuchi H., Kobayashi Y., Yoshihara T., Niwa J., Doyu M., Ohtsuka K., Sobue G. Hsp70 and Hsp40 improve neurite outgrowth and suppress intracytoplasmic aggregate formation in cultured neuronal cells expressing mutant SOD1. Brain Res. 2002, 949:11-22.
    • (2002) Brain Res. , vol.949 , pp. 11-22
    • Takeuchi, H.1    Kobayashi, Y.2    Yoshihara, T.3    Niwa, J.4    Doyu, M.5    Ohtsuka, K.6    Sobue, G.7
  • 37
    • 0031574072 scopus 로고    scopus 로고
    • The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools
    • Thompson J.D., Gibson T.J., Plewniak F., Jeanmougin F., Higgins D.G. The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acids Res. 1997, 25:4876-4882.
    • (1997) Nucleic Acids Res. , vol.25 , pp. 4876-4882
    • Thompson, J.D.1    Gibson, T.J.2    Plewniak, F.3    Jeanmougin, F.4    Higgins, D.G.5
  • 40
    • 37849043062 scopus 로고    scopus 로고
    • Genetics of familial amyotrophic lateral sclerosis
    • Valdmanis P.N., Rouleau G.A. Genetics of familial amyotrophic lateral sclerosis. Neurology 2008, 70:144-152.
    • (2008) Neurology , vol.70 , pp. 144-152
    • Valdmanis, P.N.1    Rouleau, G.A.2
  • 41
    • 33645106746 scopus 로고    scopus 로고
    • Loss of metabotropic glutamate receptor-mediated regulation of glutamate transport in chemically activated astrocytes in a rat model of amyotrophic lateral sclerosis
    • Vermeiren C., Hemptinne I., Vanhoutte N., Tilleux S., Maloteaux J.M., Hermans E. Loss of metabotropic glutamate receptor-mediated regulation of glutamate transport in chemically activated astrocytes in a rat model of amyotrophic lateral sclerosis. J. Neurochem. 2006, 96:719-731.
    • (2006) J. Neurochem. , vol.96 , pp. 719-731
    • Vermeiren, C.1    Hemptinne, I.2    Vanhoutte, N.3    Tilleux, S.4    Maloteaux, J.M.5    Hermans, E.6
  • 42
    • 4143120075 scopus 로고    scopus 로고
    • The role of profilin complexes in cell motility and other cellular processes
    • Witke W. The role of profilin complexes in cell motility and other cellular processes. Trends Cell Biol. 2004, 14:461-469.
    • (2004) Trends Cell Biol. , vol.14 , pp. 461-469
    • Witke, W.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.