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Volumn 130, Issue 5, 2007, Pages 1360-1374

A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology

Author keywords

Alpha synuclein; Frontotemporal dementia; Neurogenetics; Progranulin; Tau

Indexed keywords

ALPHA SYNUCLEIN; BRAIN PROTEIN; MESSENGER RNA; PROGRANULIN; PROTEIN ANTIBODY; TAU PROTEIN; TDP43 PROTEIN; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; GRN PROTEIN, HUMAN; MAPT PROTEIN, HUMAN; PROTEIN TDP 43; PROTEIN TDP-43; SIGNAL PEPTIDE; UBIQUITIN;

EID: 34249658365     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm069     Document Type: Article
Times cited : (117)

References (31)
  • 1
    • 33746919083 scopus 로고    scopus 로고
    • Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
    • Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006; 442: 916-9.
    • (2006) Nature , vol.442 , pp. 916-919
    • Baker, M.1    Mackenzie, I.R.2    Pickering-Brown, S.M.3    Gass, J.4    Rademakers, R.5    Lindholm, C.6
  • 2
    • 0030983011 scopus 로고    scopus 로고
    • Chromosome 17 and hereditary dementia: Linkage studies in three non-Alzheimer families and kindreds with late-onset FAD
    • Bird TD, Wijsman EM, Nochlin D, Leehey M, Sumi SM, Payami H, et al. Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD. Neurology 1997; 48: 949-54.
    • (1997) Neurology , vol.48 , pp. 949-954
    • Bird, T.D.1    Wijsman, E.M.2    Nochlin, D.3    Leehey, M.4    Sumi, S.M.5    Payami, H.6
  • 3
    • 33750576831 scopus 로고    scopus 로고
    • Frontotemporal dementia and parkinsonism associated with the IVSI+IG→A mutation in progranulin: A clinicopathological study
    • Boeve BF, Baker M, Dickson DW, Parisi JE, Giannini C, Josephs KA, et al. Frontotemporal dementia and parkinsonism associated with the IVSI+IG→A mutation in progranulin: a clinicopathological study. Brain 2006; 129: 3103-14.
    • (2006) Brain , vol.129 , pp. 3103-3114
    • Boeve, B.F.1    Baker, M.2    Dickson, D.W.3    Parisi, J.E.4    Giannini, C.5    Josephs, K.A.6
  • 5
    • 33746910649 scopus 로고    scopus 로고
    • Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
    • Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006; 442: 920-4.
    • (2006) Nature , vol.442 , pp. 920-924
    • Cruts, M.1    Gijselinck, I.2    van der Zee, J.3    Engelborghs, S.4    Wils, H.5    Pirici, D.6
  • 6
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion, Hum Mutat 2000; 15: 7-12.
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 7
    • 0037135580 scopus 로고    scopus 로고
    • Tau exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 50 and 30 splice sites
    • D'Souza I, Schellenberg GD. Tau exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 50 and 30 splice sites. J Bio Chem 2002; 277: 26587-99.
    • (2002) J Bio Chem , vol.277 , pp. 26587-26599
    • D'Souza, I.1    Schellenberg, G.D.2
  • 8
    • 0036322266 scopus 로고    scopus 로고
    • Novel antibodies to synuclein show abundant striatal pathology in Lewy body diseases
    • Duda JE, Giasson BI, Mabon ME, Lee VM, Trojanowski JQ. Novel antibodies to synuclein show abundant striatal pathology in Lewy body diseases. Ann Neurol 2002; 52: 205-10.
    • (2002) Ann Neurol , vol.52 , pp. 205-210
    • Duda, J.E.1    Giasson, B.I.2    Mabon, M.E.3    Lee, V.M.4    Trojanowski, J.Q.5
  • 9
    • 0036939210 scopus 로고    scopus 로고
    • Ubiquitinpositive neuronal and tau 2-positive glial inclusion in frontotemporal dementia of motor neuron type
    • s
    • Forno LS, Langston JW, Herrick MK, Wilson JD, Murayama S. Ubiquitinpositive neuronal and tau 2-positive glial inclusion in frontotemporal dementia of motor neuron type. Acta Neuropath 2002; 103: 599-606s.
    • (2002) Acta Neuropath , vol.103 , pp. 599-606
    • Forno, L.S.1    Langston, J.W.2    Herrick, M.K.3    Wilson, J.D.4    Murayama, S.5
  • 11
    • 33749568019 scopus 로고    scopus 로고
    • Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
    • Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 2006; 15: 2988-3001.
    • (2006) Hum Mol Genet , vol.15 , pp. 2988-3001
    • Gass, J.1    Cannon, A.2    Mackenzie, I.R.3    Boeve, B.4    Baker, M.5    Adamson, J.6
  • 12
    • 0242320195 scopus 로고    scopus 로고
    • Progranulin (granulin-epithelin precursor, PC cell-derived factor, acrogranin) mediates tissue repair and tumorigenesis
    • He Z, Bateman A. Progranulin (granulin-epithelin precursor, PC cell-derived factor, acrogranin) mediates tissue repair and tumorigenesis. J Mol Med 2003; 81: 600-12.
    • (2003) J Mol Med , vol.81 , pp. 600-612
    • He, Z.1    Bateman, A.2
  • 14
    • 0032543684 scopus 로고    scopus 로고
    • Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
    • Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998; 393: 702-5.
    • (1998) Nature , vol.393 , pp. 702-705
    • Hutton, M.1    Lendon, C.L.2    Rizzu, P.3    Baker, M.4    Froelich, S.5    Houlden, H.6
  • 15
    • 33750590113 scopus 로고    scopus 로고
    • The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene
    • Mackenzie IR, Baker M, Pickering-Brown SM, Hsiung G-Y, Lindholm C, Dwosh E, et al. The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain 2006; 129: 3081-90.
    • (2006) Brain , vol.129 , pp. 3081-3090
    • Mackenzie, I.R.1    Baker, M.2    Pickering-Brown, S.M.3    Hsiung, G.-Y.4    Lindholm, C.5    Dwosh, E.6
  • 16
    • 33750576830 scopus 로고    scopus 로고
    • Novel splicing mutation in the progranulingene causing familial corticobasal syndrome
    • Masellis M, Momeni P, Meschino W, Heffner R, Elder J, Sato C, et al. Novel splicing mutation in the progranulingene causing familial corticobasal syndrome. Brain 2006; 129: 3115-23.
    • (2006) Brain , vol.129 , pp. 3115-3123
    • Masellis, M.1    Momeni, P.2    Meschino, W.3    Heffner, R.4    Elder, J.5    Sato, C.6
  • 17
    • 33144489150 scopus 로고    scopus 로고
    • Diagnosis and management of dementia with Lewy bodies: Third report of the DLB Consortium
    • McKeith IG, Dickson DW, Lowe J, Emre M, O'Brien JT, Feldman H, et al. Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology 2005; 65: 1863-72.
    • (2005) Neurology , vol.65 , pp. 1863-1872
    • McKeith, I.G.1    Dickson, D.W.2    Lowe, J.3    Emre, M.4    O'Brien, J.T.5    Feldman, H.6
  • 18
    • 33749499157 scopus 로고    scopus 로고
    • HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin
    • Mukherjee O, Pastor P, Cairns NJ, Chakracerty S, Kauwe JSK, Shears S, et al. HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Ann Neurol 2006; 60: 314-22.
    • (2006) Ann Neurol , vol.60 , pp. 314-322
    • Mukherjee, O.1    Pastor, P.2    Cairns, N.J.3    Chakracerty, S.4    Kauwe, J.S.K.5    Shears, S.6
  • 19
    • 33749632259 scopus 로고    scopus 로고
    • TDP-43 is the major disease protein ubiquitinated in frontotemporal lobar degeration and amyotrophic lateral sclerosis
    • Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, et al. TDP-43 is the major disease protein ubiquitinated in frontotemporal lobar degeration and amyotrophic lateral sclerosis. Science 2006; 314: 130-3.
    • (2006) Science , vol.314 , pp. 130-133
    • Neumann, M.1    Sampathu, D.M.2    Kwong, L.K.3    Truax, A.C.4    Micsenyi, M.C.5    Chou, T.T.6
  • 20
    • 0030681215 scopus 로고    scopus 로고
    • Consensus recommendations for the postmortem diagnosis of Alzheimer's disease. The National Institute on Aging, and Reagan Institute Working Group on Diagnostic Criteria for the Neuropathological Assessment of Alzheimer's Disease
    • NIA and Reagan Institute Working Group
    • NIA and Reagan Institute Working Group. Consensus recommendations for the postmortem diagnosis of Alzheimer's disease. The National Institute on Aging, and Reagan Institute Working Group on Diagnostic Criteria for the Neuropathological Assessment of Alzheimer's Disease. Neurobiol Aging 1997; 18: S1-2.
    • (1997) Neurobiol Aging , vol.18
  • 21
    • 0029055025 scopus 로고
    • Investigation of tau-2 positive microglia-like cells in the subcortical nuclei of human neurodegenerative disorders
    • Odawara T, Iseki E, Kosaka K, Akiyama H, Ikeda K, Yamamoto T. Investigation of tau-2 positive microglia-like cells in the subcortical nuclei of human neurodegenerative disorders. Neurosci Lett 1995; 192: 145-8.
    • (1995) Neurosci Lett , vol.192 , pp. 145-148
    • Odawara, T.1    Iseki, E.2    Kosaka, K.3    Akiyama, H.4    Ikeda, K.5    Yamamoto, T.6
  • 22
  • 24
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Krawetz S, Misener S, editors, Totowa, NJ: Humana Press;
    • Rozen S, Skaletsky HJ. Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S, editors. Bioinformatics Methods and Protocols: Methods in Molecular Biology. Totowa, NJ: Humana Press; 2000. p. 365-86.
    • (2000) Bioinformatics Methods and Protocols: Methods in Molecular Biology , pp. 365-386
    • Rozen, S.1    Skaletsky, H.J.2
  • 25
    • 33846076379 scopus 로고    scopus 로고
    • Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies
    • Sampathu DM, Neumann M, Kwong LK, Chou TT, Micsenyi M, Truax A, et al. Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol 2006; 169: 1343-52.
    • (2006) Am J Pathol , vol.169 , pp. 1343-1352
    • Sampathu, D.M.1    Neumann, M.2    Kwong, L.K.3    Chou, T.T.4    Micsenyi, M.5    Truax, A.6
  • 27
    • 33750599059 scopus 로고    scopus 로고
    • Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia
    • Snowden JS, Pickering-Brown SM, Mackenzie IR, Richardson AM, Varma A, Neary D, et al. Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. Brain 2006; 129: 3091-102.
    • (2006) Brain , vol.129 , pp. 3091-3102
    • Snowden, J.S.1    Pickering-Brown, S.M.2    Mackenzie, I.R.3    Richardson, A.M.4    Varma, A.5    Neary, D.6
  • 29
    • 0034595537 scopus 로고    scopus 로고
    • Appearance of tau-2 immunoreactivity in glial cells in human brain with cerebral infarction
    • Uchihara T, Tsuchiya K, Nakamura A, Ikeda K. Appearance of tau-2 immunoreactivity in glial cells in human brain with cerebral infarction. Neurosci Lett 2000; 286: 99-102.
    • (2000) Neurosci Lett , vol.286 , pp. 99-102
    • Uchihara, T.1    Tsuchiya, K.2    Nakamura, A.3    Ikeda, K.4
  • 30
    • 1842483843 scopus 로고    scopus 로고
    • Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    • Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 2004; 36: 377-81.
    • (2004) Nat Genet , vol.36 , pp. 377-381
    • Watts, G.D.1    Wymer, J.2    Kovach, M.J.3    Mehta, S.G.4    Mumm, S.5    Darvish, D.6
  • 31
    • 33749021352 scopus 로고    scopus 로고
    • LRRK2 G2019S in families with parkinson disease who originated from Europe and the Middle East: Evidence of two distinct founding events beginning two millennia ago
    • Zabetian CP, Hutter CM, Yearout D, Lopez AN, Factor SA, Griffith A, et al. LRRK2 G2019S in families with parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago. Am J Hum Genet 2006; 79: 752-8.
    • (2006) Am J Hum Genet , vol.79 , pp. 752-758
    • Zabetian, C.P.1    Hutter, C.M.2    Yearout, D.3    Lopez, A.N.4    Factor, S.A.5    Griffith, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.