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VM Deerlin, JB Leverenz, LM Bekris, TD Bird, W Yuan (2008)
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysisLancet Neurol, 7
M Morita, A Al Chalabi, PM Andersen, B Hosler, P Sapp (2006)
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementiaNeurology, 66
MA Gitcho, RH Baloh, S Chakraverty, K Mayo, JB Norton (2008)
TDP-43 A315T mutation in familial motor neuron diseaseAnn Neurol, 63
HX Deng, A Hentati, JA Tainer, Z Iqbal, A Cayabyab (1993)
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutaseScience, 261
BS Johnson, JM McCaffery, S Lindquist, AD Gitler (2008)
A yeast TDP-43 proteinopathy model: exploring the molecular determinants of TDP-43 aggregation and cellular toxicityProc Natl Acad Sci U S A, 105
S Rollinson, JS Snowden, D Neary, KE Morrison, DM Mann (2007)
TDP-43 gene analysis in frontotemporal lobar degenerationNeurosci Lett, 419
(Gijselinck I, Sleegers K, Engelborghs S, Robberecht W, Martin JJ et al (2007) Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiol Aging)
Gijselinck I, Sleegers K, Engelborghs S, Robberecht W, Martin JJ et al (2007) Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiol AgingGijselinck I, Sleegers K, Engelborghs S, Robberecht W, Martin JJ et al (2007) Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiol Aging, Gijselinck I, Sleegers K, Engelborghs S, Robberecht W, Martin JJ et al (2007) Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiol Aging
P Poorkaj, TD Bird, E Wijsman, E Nemens, RM Garruto (1998)
Tau is a candidate gene for chromosome 17 frontotemporal dementiaAnn Neurol, 43
E Kabashi, PN Valdmanis, P Dion, D Spiegelman, BJ McConkey (2008)
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosisNat Genet, 40
RJ Harvey, M Skelton-Robinson, MN Rossor (2003)
The prevalence and causes of dementia in people under the age of 65 yearsJ Neurol Neurosurg Psychiatry, 74
P Pasinelli, RH Brown (2006)
Molecular biology of amyotrophic lateral sclerosis: insights from geneticsNat Rev Neurosci, 7
GD Watts, J Wymer, MJ Kovach, SG Mehta, S Mumm (2004)
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing proteinNat Genet, 36
MJ Winton, LM Igaz, MM Wong, LK Kwong, JQ Trojanowski (2008)
Disturbance of nuclear and cytoplasmic Tar DNA binding protein (TDP-43) induces disease-like redistribution, sequestration and aggregate formationJ Biol Chem, 283
J Hardy, DJ Selkoe (2002)
The amyloid hypothesis of Alzheimer’s disease: progress and problems on the road to therapeuticsScience, 297
CF Tan, H Eguchi, A Tagawa, O Onodera, T Iwasaki (2007)
TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutationActa Neuropathol, 113
MS Forman, JQ Trojanowski, VM Lee (2007)
TDP-43: a novel neurodegenerative proteinopathyCurr Opin Neurobiol, 17
IR Mackenzie, EH Bigio, PG Ince, F Geser, M Neumann (2007)
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutationsAnn Neurol, 61
(Schumacher A, Friedrich P, Diehl-Schmid J, Ibach B, Perneczky R et al (2007) No association of TDP-43 with sporadic frontotemporal dementia. Neurobiol Aging)
Schumacher A, Friedrich P, Diehl-Schmid J, Ibach B, Perneczky R et al (2007) No association of TDP-43 with sporadic frontotemporal dementia. Neurobiol AgingSchumacher A, Friedrich P, Diehl-Schmid J, Ibach B, Perneczky R et al (2007) No association of TDP-43 with sporadic frontotemporal dementia. Neurobiol Aging, Schumacher A, Friedrich P, Diehl-Schmid J, Ibach B, Perneczky R et al (2007) No association of TDP-43 with sporadic frontotemporal dementia. Neurobiol Aging
M Filimonenko, S Stuffers, C Raiborg, A Yamamoto, L Malerod (2007)
Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative diseaseJ Cell Biol, 179
SH Freeman, T Spires-Jones, BT Hyman, JH Growdon, MP Frosch (2008)
TAR-DNA binding protein 43 in Pick diseaseJ Neuropathol Exp Neurol, 67
H Nakashima-Yasuda, K Uryu, J Robinson, SX Xie, H Hurtig (2007)
Co-morbidity of TDP-43 proteinopathy in Lewy body related diseasesActa Neuropathol, 114
I. Gijselinck, K. Sleegers, S. Engelborghs, W. Robberecht, Jean-Jacques Martin, R. Vandenberghe, R. Sciot, B. Dermaut, D. Goossens, J. Zee, T. Pooter, J. Del-Favero, P. Santens, P. Jonghe, P. Deyn, C. Broeckhoven, M. Cruts (2009)
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALSNeurobiology of Aging, 30
(Cruts M, Gijselinck I, van der ZJ, Engelborghs S, Wils H et al (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442:920–924)
Cruts M, Gijselinck I, van der ZJ, Engelborghs S, Wils H et al (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442:920–924Cruts M, Gijselinck I, van der ZJ, Engelborghs S, Wils H et al (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442:920–924, Cruts M, Gijselinck I, van der ZJ, Engelborghs S, Wils H et al (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442:920–924
M Neumann, DM Sampathu, LK Kwong, AC Truax, MC Micsenyi (2006)
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosisScience, 314
M Baker, IR Mackenzie, SM Pickering-Brown, J Gass, R Rademakers (2006)
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17Nature, 442
T Arai, M Hasegawa, H Akiyama, K Ikeda, T Nonaka (2006)
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosisBiochem Biophys Res Commun, 351
C Amador-Ortiz, WL Lin, Z Ahmed, D Personett, P Davies (2007)
TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer’s diseaseAnn Neurol, 61
M Neumann, LK Kwong, AC Truax, B Vanmassenhove, HA Kretzschmar (2007)
TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusionsJ Neuropathol Exp Neurol, 66
IR Mackenzie, R Rademakers (2007)
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developmentsNeurogenetics, 8
(Sleegers K, Brouwers N, Maurer-Stroh S, van Es MA, Van Damme P et al (2008) Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology)
Sleegers K, Brouwers N, Maurer-Stroh S, van Es MA, Van Damme P et al (2008) Progranulin genetic variability contributes to amyotrophic lateral sclerosis. NeurologySleegers K, Brouwers N, Maurer-Stroh S, van Es MA, Van Damme P et al (2008) Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology, Sleegers K, Brouwers N, Maurer-Stroh S, van Es MA, Van Damme P et al (2008) Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology
M Hasegawa, T Arai, H Akiyama, T Nonaka, H Mori (2007)
TDP-43 is deposited in the Guam parkinsonism-dementia complex brainsBrain, 130
S Boillee, VC Vande, DW Cleveland (2006)
ALS: a disease of motor neurons and their nonneuronal neighborsNeuron, 52
M. Cruts, I. Gijselinck, J. Zee, S. Engelborghs, H. Wils, D. Pirici, R. Rademakers, R. Vandenberghe, B. Dermaut, Jean-Jacques Martin, C. Duijn, K. Peeters, R. Sciot, P. Santens, T. Pooter, Maria Mattheijssens, M. Broeck, Ivy Cuijt, K. Vennekens, P. Deyn, S. Kumar-Singh, C. Broeckhoven (2006)
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21Nature, 442
DR Rosen, T Siddique, D Patterson, DA Figlewicz, P Sapp (1993)
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisNature, 362
YM Ayala, S Pantano, A D’Ambrogio, E Buratti, A Brindisi (2005)
Human, Drosophila, and C. elegans TDP43: nucleic acid binding properties and splicing regulatory functionJ Mol Biol, 348
E Buratti, T Dork, E Zuccato, F Pagani, M Romano (2001)
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skippingEMBO J, 20
JC Schymick, K Talbot, BJ Traynor (2007)
Genetics of sporadic amyotrophic lateral sclerosisHum Mol Genet 16 Spec No, 2
A Yokoseki, A Shiga, CF Tan, A Tagawa, H Kaneko (2008)
TDP-43 mutation in familial amyotrophic lateral sclerosisAnn Neurol, 63
NJ Cairns, M Neumann, EH Bigio, IE Holm, D Troost (2007)
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusionsAm J Pathol, 171
J Sreedharan, IP Blair, VB Tripathi, X Hu, C Vance (2008)
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosisScience, 319
D Neary, JS Snowden, L Gustafson, U Passant, D Stuss (1998)
Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteriaNeurology, 51
G Skibinski, NJ Parkinson, JM Brown, L Chakrabarti, SL Lloyd (2005)
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementiaNat Genet, 37
J Robertson, T Sanelli, S Xiao, W Yang, P Horne (2007)
Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALSNeurosci Lett, 420
LK Kwong, K Uryu, JQ Trojanowski, VM Lee (2008)
TDP-43 proteinopathies: neurodegenerative protein misfolding diseases without amyloidosisNeurosignals, 16
PN Valdmanis, N Dupre, JP Bouchard, W Camu, F Salachas (2007)
Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9pArch Neurol, 64
F Geser, MJ Winton, LK Kwong, Y Xu, SX Xie (2008)
Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of GuamActa Neuropathol, 115
S Kato, H Hayashi, A Yagishita (1993)
Involvement of the frontotemporal lobe and limbic system in amyotrophic lateral sclerosis: as assessed by serial computed tomography and magnetic resonance imagingJ Neurol Sci, 116
K. Sleegers, N. Brouwers, S. Maurer-Stroh, M. Es, P. Damme, P. Vught, J. Zee, S. Serneels, T. Pooter, M. Broeck, M. Cruts, J. Schymkowitz, P. Jonghe, F. Rousseau, L. Berg, W. Robberecht, C. Broeckhoven (2008)
Progranulin genetic variability contributes to amyotrophic lateral sclerosisNeurology, 71
SH Ou, F Wu, D Harrich, LF Garcia-Martinez, RB Gaynor (1995)
Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifsJ Virol, 69
S Higashi, E Iseki, R Yamamoto, M Minegishi, H Hino (2007)
Concurrence of TDP-43, tau and alpha-synuclein pathology in brains of Alzheimer’s disease and dementia with Lewy bodiesBrain Res, 1184
YM Ayala, T Misteli, FE Baralle (2008)
TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expressionProc Natl Acad Sci U S A, 105
MG Spillantini, JR Murrell, M Goedert, MR Farlow, A Klug (1998)
Mutation in the tau gene in familial multiple system tauopathy with presenile dementiaProc Natl Acad Sci U S A, 95
M Hutton, CL Lendon, P Rizzu, M Baker, S Froelich (1998)
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17Nature, 393
SM Pickering-Brown, S Rollinson, PD Du, KE Morrison, A Varma (2008)
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutationsBrain, 131
E Ratnavalli, C Brayne, K Dawson, JR Hodges (2002)
The prevalence of frontotemporal dementiaNeurology, 58
E Buratti, FE Baralle (2001)
Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9J Biol Chem, 276
A. Schumacher, P. Friedrich, J. Diehl-Schmid, B. Ibach, R. Perneczky, T. Eisele, Ruth Vukovich, Hans Förstl, M. Riemenschneider (2009)
No association of TDP-43 with sporadic frontotemporal dementiaNeurobiology of Aging, 30
PN Valdmanis, GA Rouleau (2008)
Genetics of familial amyotrophic lateral sclerosisNeurology, 70
A. Schumacher, P. Friedrich, J. Diehl-Schmid, B. Ibach, T. Eisele, S. Laws, H. Förstl, A. Kurz, M. Riemenschneider (2007)
No association of chromatin-modifying protein 2B with sporadic frontotemporal dementiaNeurobiology of Aging, 28
In 2006 the protein TDP-43 was identified as the major ubiquitinated component deposited in the inclusion bodies found in two human neurodegenerative diseases, amyotrophic lateral sclerosis and frontotemporal lobar degeneration. The pathogenesis of both disorders is unclear, although they are related by having some overlap of symptoms and now by the shared histopathology of TDP-43 deposition. Now, in 2008, several papers have been published in quick succession describing mutations in the TDP-43 gene, showing they can be a primary cause of amyotrophic lateral sclerosis. There are many precedents in neurodegenerative disease in which rare single-gene mutations have given great insight into understanding disease processes, which is why the TDP-43 mutations are potentially very important.
Mammalian Genome – Springer Journals
Published: Jul 1, 2008
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