메뉴 건너뛰기




Volumn 20, Issue 6, 2007, Pages 693-698

The genetics of frontotemporal lobar degeneration

Author keywords

CHMP2B; Frontotemporal lobar degeneration; Progranulin; Tau; TDP 43

Indexed keywords

APOLIPOPROTEIN E; DNA BINDING PROTEIN; PRION PROTEIN; PROGRANULIN; SCATTER FACTOR RECEPTOR; TAU PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR; UBIQUITIN;

EID: 36048949243     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/WCO.0b013e3282f1c961     Document Type: Review
Times cited : (8)

References (66)
  • 1
    • 34447099564 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration: Clinical and pathological relationships
    • Snowden J, Neary D, Mann D. Frontotemporal lobar degeneration: clinical and pathological relationships. Acta Neuropathol (Berl) 2007; 114:31-38.
    • (2007) Acta Neuropathol (Berl) , vol.114 , pp. 31-38
    • Snowden, J.1    Neary, D.2    Mann, D.3
  • 2
    • 34447096691 scopus 로고    scopus 로고
    • Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: Consensus of the Consortium for Frontotemporal Lobar Degeneration
    • The authors describe a recent reclassification of FTLD based on current clinical and histopathological data
    • Cairns NJ, Bigio EH, Mackenzie IR, et al. Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol (Berl) 2007; 114:5-22. The authors describe a recent reclassification of FTLD based on current clinical and histopathological data.
    • (2007) Acta Neuropathol (Berl) , vol.114 , pp. 5-22
    • Cairns, N.J.1    Bigio, E.H.2    Mackenzie, I.R.3
  • 4
    • 0031800415 scopus 로고    scopus 로고
    • Familial aggregation in frontotemporal dementia
    • Stevens M, van Duijn CM, Kamphorst W, et al. Familial aggregation in frontotemporal dementia. Neurology 1998; 50:1541-1545.
    • (1998) Neurology , vol.50 , pp. 1541-1545
    • Stevens, M.1    van Duijn, C.M.2    Kamphorst, W.3
  • 5
    • 0029119112 scopus 로고
    • Familial nonspecific dementia maps to chromosome 3
    • Brown J, Ashworth A, Gydesen S, et al. Familial nonspecific dementia maps to chromosome 3. Hum Mol Genet 1995; 4:1625-1628.
    • (1995) Hum Mol Genet , vol.4 , pp. 1625-1628
    • Brown, J.1    Ashworth, A.2    Gydesen, S.3
  • 6
    • 23044471011 scopus 로고    scopus 로고
    • Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
    • Skibinski G, Parkinson NJ, Brown JM, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005; 37:806-808.
    • (2005) Nat Genet , vol.37 , pp. 806-808
    • Skibinski, G.1    Parkinson, N.J.2    Brown, J.M.3
  • 7
    • 33646000253 scopus 로고    scopus 로고
    • CHMP2B mutations are not a common cause of frontotemporal lobar degeneration
    • Cannon A, Baker M, Boeve B, et al. CHMP2B mutations are not a common cause of frontotemporal lobar degeneration. Neurosci Lett 2006; 398:83-84.
    • (2006) Neurosci Lett , vol.398 , pp. 83-84
    • Cannon, A.1    Baker, M.2    Boeve, B.3
  • 8
    • 33751232960 scopus 로고    scopus 로고
    • Sequence analysis of all identified open reading frames on the frontal temporal dementia haplotype on chromosome 3 fails to identify unique coding variants except in CHMP2B
    • Momeni P, Bell J, Duckworth J, et al. Sequence analysis of all identified open reading frames on the frontal temporal dementia haplotype on chromosome 3 fails to identify unique coding variants except in CHMP2B. Neurosci Lett 2006; 410:77-79.
    • (2006) Neurosci Lett , vol.410 , pp. 77-79
    • Momeni, P.1    Bell, J.2    Duckworth, J.3
  • 9
    • 36048931517 scopus 로고    scopus 로고
    • Schumacher A, Friedrich P, Diehl-Schmid J, et al. No association of chromatin-modifying protein 2B with sporadic frontotemporal dementia. Neurobiol Aging 2006 [Epub ahead of print].
    • Schumacher A, Friedrich P, Diehl-Schmid J, et al. No association of chromatin-modifying protein 2B with sporadic frontotemporal dementia. Neurobiol Aging 2006 [Epub ahead of print].
  • 10
    • 33749006845 scopus 로고    scopus 로고
    • ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
    • Epub ahead of print
    • Parkinson N, Ince PG, Smith MO, et al. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology 2006 [Epub ahead of print].
    • (2006) Neurology
    • Parkinson, N.1    Ince, P.G.2    Smith, M.O.3
  • 11
    • 33749632259 scopus 로고    scopus 로고
    • Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314:130-133. This was the first study to dentify TDP-43 in ubiquitin positive lesions in FTLD-U and ALS cases. The authors identified a pathological profile in these lesions specific to FTLD-U using sequential biochemical fractionation.
    • Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314:130-133. This was the first study to dentify TDP-43 in ubiquitin positive lesions in FTLD-U and ALS cases. The authors identified a pathological profile in these lesions specific to FTLD-U using sequential biochemical fractionation.
  • 12
    • 0034605478 scopus 로고    scopus 로고
    • Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
    • Hosler BA, Siddique T, Sapp PC, et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA 2000; 284:1664-1669.
    • (2000) JAMA , vol.284 , pp. 1664-1669
    • Hosler, B.A.1    Siddique, T.2    Sapp, P.C.3
  • 13
    • 33645062075 scopus 로고    scopus 로고
    • A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
    • Morita M, Al-Chalabi A, Andersen PM, et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006; 66:839-844.
    • (2006) Neurology , vol.66 , pp. 839-844
    • Morita, M.1    Al-Chalabi, A.2    Andersen, P.M.3
  • 14
    • 33645069660 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locuson chromosome 9p13.2-21.3
    • Vance C, Al-Chalabi A, Ruddy D, et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locuson chromosome 9p13.2-21.3. Brain 2006; 129:868-876.
    • (2006) Brain , vol.129 , pp. 868-876
    • Vance, C.1    Al-Chalabi, A.2    Ruddy, D.3
  • 15
    • 33846945446 scopus 로고    scopus 로고
    • Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p
    • Valdmanis PN, Dupre N, Bouchard JP, et al. Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol 2007; 64:240-245.
    • (2007) Arch Neurol , vol.64 , pp. 240-245
    • Valdmanis, P.N.1    Dupre, N.2    Bouchard, J.P.3
  • 16
    • 33846612007 scopus 로고    scopus 로고
    • Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD
    • Momeni P, Schymick J, Jain S, et al. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol 2006; 6:44.
    • (2006) BMC Neurol , vol.6 , pp. 44
    • Momeni, P.1    Schymick, J.2    Jain, S.3
  • 17
    • 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, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 2004; 36:377-381.
    • (2004) Nat Genet , vol.36 , pp. 377-381
    • Watts, G.D.1    Wymer, J.2    Kovach, M.J.3
  • 18
    • 20044373638 scopus 로고    scopus 로고
    • Mutant valosin-containing protein causes a novel type of frontotemporal dementia
    • Schroder R, Watts GD, Mehta SG, et al. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol 2005; 57:457-461.
    • (2005) Ann Neurol , vol.57 , pp. 457-461
    • Schroder, R.1    Watts, G.D.2    Mehta, S.G.3
  • 19
    • 33846815066 scopus 로고    scopus 로고
    • TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations
    • Neumann M, Mackenzie IR, Cairns NJ, et al. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol 2007; 66:152-157.
    • (2007) J Neuropathol Exp Neurol , vol.66 , pp. 152-157
    • Neumann, M.1    Mackenzie, I.R.2    Cairns, N.J.3
  • 20
    • 34250627671 scopus 로고    scopus 로고
    • The complex aetiology of frontotemporal lobar degeneration
    • Pickering-Brown SM. The complex aetiology of frontotemporal lobar degeneration. Exp Neurol 2007; 206:1-10.
    • (2007) Exp Neurol , vol.206 , pp. 1-10
    • Pickering-Brown, S.M.1
  • 21
    • 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, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998; 393:702-705.
    • (1998) Nature , vol.393 , pp. 702-705
    • Hutton, M.1    Lendon, C.L.2    Rizzu, P.3
  • 22
    • 14444284106 scopus 로고    scopus 로고
    • Tau is a candidate gene for chromosome 17 frontotemporal dementia
    • Poorkaj P, Bird TD, Wijsman E, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998; 43:815-825.
    • (1998) Ann Neurol , vol.43 , pp. 815-825
    • Poorkaj, P.1    Bird, T.D.2    Wijsman, E.3
  • 23
    • 0032560487 scopus 로고    scopus 로고
    • Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
    • Spillantini MG, Murrell JR, Goedert M, et al. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 1998; 95:7737-7741.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 7737-7741
    • Spillantini, M.G.1    Murrell, J.R.2    Goedert, M.3
  • 24
    • 0034081234 scopus 로고    scopus 로고
    • Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
    • Spillantini MG, Van Swieten JC, Goedert M. Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Neurogenetics 2000; 2:193-205.
    • (2000) Neurogenetics , vol.2 , pp. 193-205
    • Spillantini, M.G.1    Van Swieten, J.C.2    Goedert, M.3
  • 25
    • 0842265475 scopus 로고    scopus 로고
    • The neuropathology of frontotemporal lobar degeneration with respect to the cytological and biochemical characteristics of tau protein
    • Taniguchi S, McDonagh AM, Pickering-Brown SM, et al. The neuropathology of frontotemporal lobar degeneration with respect to the cytological and biochemical characteristics of tau protein. Neuropathol Appl Neurobiol 2004; 30:1-18.
    • (2004) Neuropathol Appl Neurobiol , vol.30 , pp. 1-18
    • Taniguchi, S.1    McDonagh, A.M.2    Pickering-Brown, S.M.3
  • 26
    • 0033042978 scopus 로고    scopus 로고
    • Mutations in tau reduce its microtubule binding properties in intact cells and affect its phosphorylation
    • Dayanandan R, Van Slegtenhorst M, Mack TG, et al. Mutations in tau reduce its microtubule binding properties in intact cells and affect its phosphorylation. FEBS Lett 1999; 446:228-232.
    • (1999) FEBS Lett , vol.446 , pp. 228-232
    • Dayanandan, R.1    Van Slegtenhorst, M.2    Mack, T.G.3
  • 27
    • 0032561415 scopus 로고    scopus 로고
    • Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly
    • Hasegawa M, Smith MJ, Goedert M. Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly. FEBS Lett 1998; 437:207-210.
    • (1998) FEBS Lett , vol.437 , pp. 207-210
    • Hasegawa, M.1    Smith, M.J.2    Goedert, M.3
  • 28
    • 0032484089 scopus 로고    scopus 로고
    • Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17
    • Hong M, Zhukareva V, Vogelsberg-Ragaglia V, et al. Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science 1998; 282:1914-1917.
    • (1998) Science , vol.282 , pp. 1914-1917
    • Hong, M.1    Zhukareva, V.2    Vogelsberg-Ragaglia, V.3
  • 29
    • 2942590743 scopus 로고    scopus 로고
    • Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene
    • Pickering-Brown SM, Baker M, Nonaka T, et al. Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene. Brain 2004; 127:1415-1426.
    • (2004) Brain , vol.127 , pp. 1415-1426
    • Pickering-Brown, S.M.1    Baker, M.2    Nonaka, T.3
  • 30
    • 0033011181 scopus 로고    scopus 로고
    • Accelerated filament formation from tau protein with specific FTDP-17 missense mutations
    • Nacharaju P, Lewis J, Easson C, et al. Accelerated filament formation from tau protein with specific FTDP-17 missense mutations. FEBS Lett 1999; 447:195-199.
    • (1999) FEBS Lett , vol.447 , pp. 195-199
    • Nacharaju, P.1    Lewis, J.2    Easson, C.3
  • 31
    • 0033763736 scopus 로고    scopus 로고
    • Tau gene mutation K257T causes a tauopathy similar to Pick's disease
    • Rizzini C, Goedert M, Hodges JR, et al. Tau gene mutation K257T causes a tauopathy similar to Pick's disease. J Neuropathol Exp Neurol 2000; 59:990-1001.
    • (2000) J Neuropathol Exp Neurol , vol.59 , pp. 990-1001
    • Rizzini, C.1    Goedert, M.2    Hodges, J.R.3
  • 32
    • 0242317909 scopus 로고    scopus 로고
    • Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia
    • Stanford PM, Shepherd CE, Halliday GM, et al. Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia. Brain 2003; 126:814-826.
    • (2003) Brain , vol.126 , pp. 814-826
    • Stanford, P.M.1    Shepherd, C.E.2    Halliday, G.M.3
  • 33
    • 33846080979 scopus 로고    scopus 로고
    • The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo
    • van Swieten JC, Bronner IF, Azmani A, et al. The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo. J Neuropathol Exp Neurol 2007; 66:17-25.
    • (2007) J Neuropathol Exp Neurol , vol.66 , pp. 17-25
    • van Swieten, J.C.1    Bronner, I.F.2    Azmani, A.3
  • 34
    • 0033545946 scopus 로고    scopus 로고
    • Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
    • D'Souza I, Poorkaj P, Hong M, et al. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Natl Acad Sci U S A 1999; 96:5598-5603.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 5598-5603
    • D'Souza, I.1    Poorkaj, P.2    Hong, M.3
  • 35
    • 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 Biol Chem 2002; 277:26587-26599.
    • (2002) J Biol Chem , vol.277 , pp. 26587-26599
    • D'Souza, I.1    Schellenberg, G.D.2
  • 36
    • 0033591225 scopus 로고    scopus 로고
    • 50 splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10
    • Grover A, Houlden H, Baker M, et al. 50 splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10. J Biol Chem 1999; 274:15134-15143.
    • (1999) J Biol Chem , vol.274 , pp. 15134-15143
    • Grover, A.1    Houlden, H.2    Baker, M.3
  • 37
    • 0034073995 scopus 로고    scopus 로고
    • Aberrant splicing of tau premRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17
    • Jiang Z, Cote J, Kwon JM, et al. Aberrant splicing of tau premRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17. Mol Cell Biol 2000; 20:4036-4048.
    • (2000) Mol Cell Biol , vol.20 , pp. 4036-4048
    • Jiang, Z.1    Cote, J.2    Kwon, J.M.3
  • 38
    • 34047166439 scopus 로고    scopus 로고
    • Tau impacts on growth-factor-stimulated actin remodeling
    • Sharma VM, Litersky JM, Bhaskar K, Lee G. Tau impacts on growth-factor-stimulated actin remodeling. J Cell Sci 2007; 120:748-757.
    • (2007) J Cell Sci , vol.120 , pp. 748-757
    • Sharma, V.M.1    Litersky, J.M.2    Bhaskar, K.3    Lee, G.4
  • 39
    • 33750716074 scopus 로고    scopus 로고
    • TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Arai T, Hasegawa M, Akiyama H, et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 2006; 351:602-611.
    • (2006) Biochem Biophys Res Commun , vol.351 , pp. 602-611
    • Arai, T.1    Hasegawa, M.2    Akiyama, H.3
  • 40
    • 0034896957 scopus 로고    scopus 로고
    • Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions
    • Woulfe J, Kertesz A, Munoz DG. Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions. Acta Neuropathol (Berl) 2001; 102:94-102.
    • (2001) Acta Neuropathol (Berl) , vol.102 , pp. 94-102
    • Woulfe, J.1    Kertesz, A.2    Munoz, D.G.3
  • 41
    • 33746919083 scopus 로고    scopus 로고
    • Baker M, Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006; 442:916-919. This landmark paper finally provides an explanation for the genetic basis of FTLD linked to chromosome 17q21. Also, this paper demonstrates, for the first time, the importance of progranulin function in the central nervous system.
    • Baker M, Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006; 442:916-919. This landmark paper finally provides an explanation for the genetic basis of FTLD linked to chromosome 17q21. Also, this paper demonstrates, for the first time, the importance of progranulin function in the central nervous system.
  • 42
    • 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, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006; 442:920-924.
    • (2006) Nature , vol.442 , pp. 920-924
    • Cruts, M.1    Gijselinck, I.2    van der Zee, J.3
  • 43
    • 33749568019 scopus 로고    scopus 로고
    • Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
    • Gass J, Cannon A, Mackenzie IR, 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
  • 44
    • 34447098853 scopus 로고    scopus 로고
    • Progranulin null mutations in both sporadic and familial frontotemporal dementia
    • Le Ber I, van der Zee J, Hannequin D, et al. Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat 2007; 28:846-855.
    • (2007) Hum Mutat , vol.28 , pp. 846-855
    • Le Ber, I.1    van der Zee, J.2    Hannequin, D.3
  • 45
    • 0026580016 scopus 로고
    • Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains
    • Bhandari V, Palfree RG, Bateman A. Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains. Proc Natl Acad Sci U S A 1992; 89:1715-1719.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 1715-1719
    • Bhandari, V.1    Palfree, R.G.2    Bateman, A.3
  • 46
    • 0027136669 scopus 로고
    • The complementary deoxyribonucleic acid sequence, tissue distribution, and cellular localization of the rat granulin precursor
    • Bhandari V, Giaid A, Bateman A. The complementary deoxyribonucleic acid sequence, tissue distribution, and cellular localization of the rat granulin precursor. Endocrinology 1993; 133:2682-2689.
    • (1993) Endocrinology , vol.133 , pp. 2682-2689
    • Bhandari, V.1    Giaid, A.2    Bateman, A.3
  • 47
    • 0033917655 scopus 로고    scopus 로고
    • Cellular localization of gene expression for progranulin
    • Daniel R, He Z, Carmichael KP, et al. Cellular localization of gene expression for progranulin. J Histochem Cytochem 2000; 48:999-1009.
    • (2000) J Histochem Cytochem , vol.48 , pp. 999-1009
    • Daniel, R.1    He, Z.2    Carmichael, K.P.3
  • 48
    • 33750590113 scopus 로고    scopus 로고
    • The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene
    • Mackenzie IR, Baker M, Pickering-Brown S, et al. The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain 2006; 129:3081-3090.
    • (2006) Brain , vol.129 , pp. 3081-3090
    • Mackenzie, I.R.1    Baker, M.2    Pickering-Brown, S.3
  • 49
    • 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, 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; 60:314-322.
    • (2006) Ann Neurol , vol.60 , pp. 314-322
    • Mukherjee, O.1    Pastor, P.2    Cairns, N.J.3
  • 50
    • 33847654643 scopus 로고    scopus 로고
    • Ahmed Z, Mackenzie IR, Hutton ML, Dickson DW. Progranulin in frontotemporal lobar degeneration and neuroinflammation. J Neuroinflammation 2007; 4:7. The authors compiled an excellent review on progranulin and its emerging role in FTLD.
    • Ahmed Z, Mackenzie IR, Hutton ML, Dickson DW. Progranulin in frontotemporal lobar degeneration and neuroinflammation. J Neuroinflammation 2007; 4:7. The authors compiled an excellent review on progranulin and its emerging role in FTLD.
  • 51
    • 28644447668 scopus 로고    scopus 로고
    • Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia
    • Li X, Rowland LP, Mitsumoto H, et al. Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. Ann Neurol 2005; 58:858-864.
    • (2005) Ann Neurol , vol.58 , pp. 858-864
    • Li, X.1    Rowland, L.P.2    Mitsumoto, H.3
  • 52
    • 33845296159 scopus 로고    scopus 로고
    • Rohrer JD, Mead S, Omar R, et al. Prion protein (PRNP) genotypes in frontotemporal lobar degeneration syndromes. Ann Neurol 2006; 60:616; author reply 617.
    • Rohrer JD, Mead S, Omar R, et al. Prion protein (PRNP) genotypes in frontotemporal lobar degeneration syndromes. Ann Neurol 2006; 60:616; author reply 617.
  • 53
    • 18544368239 scopus 로고    scopus 로고
    • Apolipoprotein E gene in frontotemporal dementia: An association study and meta-analysis
    • Verpillat P, Camuzat A, Hannequin D, et al. Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis. Eur J Hum Genet 2002; 10:399-405.
    • (2002) Eur J Hum Genet , vol.10 , pp. 399-405
    • Verpillat, P.1    Camuzat, A.2    Hannequin, D.3
  • 54
    • 32344434738 scopus 로고    scopus 로고
    • The apolipoprotein E epsilon4 allele selectively increases the risk of frontotemporal lobar degeneration in males
    • Srinivasan R, Davidson Y, Gibbons L, et al. The apolipoprotein E epsilon4 allele selectively increases the risk of frontotemporal lobar degeneration in males. J Neurol Neurosurg Psychiatry 2006; 77:154-158.
    • (2006) J Neurol Neurosurg Psychiatry , vol.77 , pp. 154-158
    • Srinivasan, R.1    Davidson, Y.2    Gibbons, L.3
  • 55
    • 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, et al. Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol 2006; 169:1343-1352.
    • (2006) Am J Pathol , vol.169 , pp. 1343-1352
    • Sampathu, D.M.1    Neumann, M.2    Kwong, L.K.3
  • 56
    • 0029066110 scopus 로고
    • Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs
    • Ou SH, Wu F, Harrich D, et al. Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. J Virol 1995; 69:3584-3596.
    • (1995) J Virol , vol.69 , pp. 3584-3596
    • Ou, S.H.1    Wu, F.2    Harrich, D.3
  • 57
    • 32344435621 scopus 로고    scopus 로고
    • TDP43 depletion rescues aberrant CFTR exon 9 skipping
    • Ayala YM, Pagani F, Baralle FE. TDP43 depletion rescues aberrant CFTR exon 9 skipping. FEBS Lett 2006; 580:1339-1344.
    • (2006) FEBS Lett , vol.580 , pp. 1339-1344
    • Ayala, Y.M.1    Pagani, F.2    Baralle, F.E.3
  • 58
    • 0035965309 scopus 로고    scopus 로고
    • Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9
    • Buratti E, Baralle FE. Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J Biol Chem 2001; 276:36337-36343.
    • (2001) J Biol Chem , vol.276 , pp. 36337-36343
    • Buratti, E.1    Baralle, F.E.2
  • 59
    • 2442676753 scopus 로고    scopus 로고
    • Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: A functional link with disease penetrance
    • Buratti E, Brindisi A, Pagani F, Baralle FE. Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance. Am J Hum Genet 2004; 74:1322-1325.
    • (2004) Am J Hum Genet , vol.74 , pp. 1322-1325
    • Buratti, E.1    Brindisi, A.2    Pagani, F.3    Baralle, F.E.4
  • 60
    • 0035794665 scopus 로고    scopus 로고
    • Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
    • Buratti E, Dork T, Zuccato E, et al. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 2001; 20:1774-1784.
    • (2001) EMBO J , vol.20 , pp. 1774-1784
    • Buratti, E.1    Dork, T.2    Zuccato, E.3
  • 61
    • 27844514227 scopus 로고    scopus 로고
    • TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: An important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing
    • Buratti E, Brindisi A, Giombi M, et al. TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem 2005; 280:37572-37584.
    • (2005) J Biol Chem , vol.280 , pp. 37572-37584
    • Buratti, E.1    Brindisi, A.2    Giombi, M.3
  • 62
    • 0037108967 scopus 로고    scopus 로고
    • Higher order arrangement of the eukaryotic nuclear bodies
    • Wang IF, Reddy NM, Shen CK. Higher order arrangement of the eukaryotic nuclear bodies. Proc Natl Acad Sci U S A 2002; 99:13583-13588.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 13583-13588
    • Wang, I.F.1    Reddy, N.M.2    Shen, C.K.3
  • 63
    • 34547663747 scopus 로고    scopus 로고
    • TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions
    • Cairns NJ, Neumann M, Bigio EH, et al. TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Am J Pathol 2007; 171:227-240.
    • (2007) Am J Pathol , vol.171 , pp. 227-240
    • Cairns, N.J.1    Neumann, M.2    Bigio, E.H.3
  • 64
    • 34247625005 scopus 로고    scopus 로고
    • Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein
    • Berl, The findings in this study contributed to the recent reclassification of FTLD-U
    • Davidson Y, Kelley T, Mackenzie IR, et al. Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43. Acta Neuropathol (Berl) 2007; 113:521-533. The findings in this study contributed to the recent reclassification of FTLD-U.
    • (2007) Acta Neuropathol , vol.TDP-43
    • Davidson, Y.1    Kelley, T.2    Mackenzie, I.R.3
  • 65
    • 34247868841 scopus 로고    scopus 로고
    • TDP-43 gene analysis in frontotemporal lobar degeneration
    • Rollinson S, Snowden JS, Neary D, et al. TDP-43 gene analysis in frontotemporal lobar degeneration. Neurosci Lett 2007; 419:1-4.
    • (2007) Neurosci Lett , vol.419 , pp. 1-4
    • Rollinson, S.1    Snowden, J.S.2    Neary, D.3
  • 66
    • 34249949338 scopus 로고    scopus 로고
    • TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease
    • Amador-Ortiz C, Lin WL, Ahmed Z, et al. TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol 2007; 61:435-445.
    • (2007) Ann Neurol , vol.61 , pp. 435-445
    • Amador-Ortiz, C.1    Lin, W.L.2    Ahmed, Z.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.