Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, Mann D, Tsuchiya K, Yoshida M, Hashizume Y, Oda T (2006) TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 351:602–611.
Article
CAS
PubMed
Google Scholar
Boeynaems S, Bogaert E, Michiels E, Gijselinck I, Sieben A, Jovičić A, De Baets G, Scheveneels W, Steyaert J, Cuijt I, Verstrepen KJ, Callaerts P, Rousseau F, Schymkowitz J, Cruts M, Van Broeckhoven C, Van Damme P, Gitler AD, Robberecht W, Van Den Bosch L (2016) Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD. Sci Rep 6:20877.
Article
CAS
PubMed
PubMed Central
Google Scholar
Brellstaff J, Lashley T, Holton JL, Lees AJ, Rossor MN, Bandopadhyay R, Revesz T (2011) Transportin-1: a marker of FTLD-FUS. Acta Neuropathol 122:591–600
Article
Google Scholar
Brooks B (1994) El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial “Clinical limits of amyotrophic lateral sclerosis” workshop contributors. J Neurol Sci 124(suppl):96–107.
Article
PubMed
Google Scholar
Calini D, Corrado L, Del Bo R, Gagliardi S, Pensato V, Verde F, Corti S, Mazzini L, Milani P, Castellotti B, Bertolin C, Sorarù G, Cereda C, Comi GP, D'Alfonso S, Gellera C, Ticozzi N, Landers JE, Ratti A, Silani V, SLAGEN Consortium (2013) Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis. Neurobiol Aging 34:2695.e11–2.
Article
CAS
Google Scholar
Chaudhury A, Chander P, Howe PH (2010) Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: Focus on hnRNP E1's multifunctional regulatory roles. RNA 16:1449–1462.
Article
CAS
PubMed
PubMed Central
Google Scholar
Cooper-Knock J, Higginbottom A, Stopford MJ, Highley RJ, Ince PG, Wharton SB, Wilson SA, Pickering-Brown S, Kirby J, Hautbergue GM, Shaw PJ (2015) Antisense RNA foci in the motor neurones of C9ORF72-ALS patients are associated with TDP-43 proteinopathy. Acta Neuropathol 130:63–75
Article
CAS
PubMed
PubMed Central
Google Scholar
Cooper-Knock J, Walsh MJ, Higginbottom A, Highley RJ, Dickman MJ, Edbauer D, Ince PG, Wharton SB, Wilson SA, Kirby J, Hautbergue GM, Shaw PJ (2014) Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain 137:2040–2051.
Article
PubMed
PubMed Central
Google Scholar
Davidson Y, Barker H, Robinson AC, Troakes C, Smith B, Al-Saraj S, Shaw C, Rollinson S, Masuda-Suzukake M, Hasegawa M, Pickering-Brown S, Snowden JS, Mann DMA (2014) Brain distribution of dipeptide repeat proteins in Frontotemporal Lobar Degeneration and Motor Neurone Disease associated with expansions in C9ORF72. Acta Neuropathol Comm 2:70.
Article
Google Scholar
Davidson YS, Robinson AC, Hu Q, Mishra M, Baborie A, Jaros E, Perry RH, Cairns NJ, Richardson A, Gerhard A, Neary D, Snowden JS, Bigio EH, Mann DM (2013) Nuclear carrier and RNA binding proteins in Frontotemporal Lobar Degeneration associated with Fused in Sarcoma (FUS) pathological changes. Neuropathol Appl Neurobiol 39:157–165.
Article
CAS
PubMed
PubMed Central
Google Scholar
Gami-Patel P, Bandopadhyay R, Brelstaff J, Revesz T, Lashley T (2016) The presence of heterogeneous nuclear ribonucleoproteins in Frontotemporal Lobar degeneration with FUS-positive inclusions. Neurobiol Aging 46:192–203
Article
CAS
PubMed
Google Scholar
Gorno-Tempini ML, Hillis AE, Weintraub S, Kertesz A, Mendez M, Cappa SF, Ogar JM, Rohrer JD, Black S, Boeve BF, Manes F, Dronkers NF, Vandenberghe R, Rascovsky K, Patterson K, Miller BL, Knopman DS, Hodges JR, Mesulam MM, Grossman M (2011) Classification of primary progressive aphasia and its variants. Neurology 76:1006–1014.
Article
PubMed
PubMed Central
Google Scholar
He Y, Smith R (2009) Nuclear functions of heterogeneous nuclear ribonuclear proteins A/B. Cell Mol Life Sci 66:1239–1256.
Article
CAS
PubMed
Google Scholar
Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP (2013) Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 495:467–473
Article
CAS
PubMed
PubMed Central
Google Scholar
Le Ber I, Van Bortel I, Nicolas G, Bouya-Ahmed K, Camuzat A, Wallon D, De Septenville A, Latouche M, Lattante S, Kabashi E, Jornea L, Hannequin D, Brice A, French research Network on FTLD/FTLD-ALS (2014) hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes. Neurobiol Aging 35:934.e5–6.
Article
Google Scholar
Lee BJ, Cansizoglu AE, Suel KE, Louis TH, Zhang Z, Chook YM (2006) Rules for nuclear localisation sequence recognition by karyopherinβ2. Cell 126:543–558.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lee KH, Zhang P, Kim HJ, Mitrea DM, Sarkar M, Freibaum BD, Cika J, Coughlin M, Messing J, Molliex A, Maxwell BA, Kim NC, Temirov J, Moore J, Kolaitis RM, Shaw TI, Bai B, Peng J, Kriwacki RW, Taylor JP (2016) C9orf72 dipeptide repeats impair the assembly, dynamics, and function of membrane-less organelles. Cell 167:774–788.e17.
Article
CAS
PubMed
Google Scholar
Lin Y, Mori E, Kato M, Xiang S, Wu L, Kwon I, McKnight SL (2016) Toxic PR poly-dipeptides encoded by the C9orf72 repeat expansion target LC domain polymers. Cell 167:789–802.e12.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ma AS, Moran-Jones K, Shan J, Munro TP, Snee MJ, Hoek KS, Smith R (2002) Heterogeneous nuclear ribonuclearprotein A3, a novel RNA trafficking response-element protein. J Biol Chem 277:18010–18020.
Article
CAS
PubMed
Google Scholar
Mackenzie IRA, Neumann M, Baborie A, Sampathu DM, Du Plessis D, Jaros E, Perry RH, Trojanowski JQ, Mann DMA, Lee VM-Y (2011) A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol 122:111–113.
Article
PubMed
PubMed Central
Google Scholar
Mann DMA, Rollinson S, Robinson A, Callister J, Snowden JS, Gendron T, Petrucelli L, Masuda-Suzukake M, Hasegawa M, Davidson YS, Pickering-Brown S (2013) Dipeptide repeat proteins are present in the p62 positive inclusions in patients with Frontotemporal Lobar Degeneration and Motor Neurone Disease associated with expansions in C9ORF72. Acta Neuropathol Comm 1:68.
Article
Google Scholar
Mori K, Lammich S, Mackenzie IRA, Forne I, Zilow S, Kretzschmar H, Edbauer D, Jannssens J, Kleinberger G, Cruts M, Herms J, Neumann M, Van Broekhoven C, Arzberger T, Haass C (2013) hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP-43 negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol 125:413–423.
Article
CAS
PubMed
Google Scholar
Mori K, Nihei Y, Arzberger T, Zhou Q, Mackenzie IR, Hermann A, Hanisch F, German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance, Kamp F, Nuscher B, Orozco D, Edbauer D, Haass C (2016) Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition. EMBO Rep 17:1314–1325.
Article
CAS
PubMed
Google Scholar
Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF (1998) Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 51:1546–1554.
Article
CAS
PubMed
Google Scholar
Neumann M, Igaz LM, Kwong LK, Nakashima-Yasuda H, Kolb SJ, Dreyfuss G, Kretzschmar HA, Trojanowski JQ, Lee VM (2007) Absence of heterogeneous nuclear ribonucleoproteins and survival motor neuron protein in TDP-43 positive inclusions in frontotemporal lobar degeneration. Acta Neuropathol 113:543–548.
Article
CAS
PubMed
Google Scholar
Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Bruce J, Schuck T, Grossman M, Clark CM, McCluskey LF, Miller BL, Masliah E, Mackenzie IR, Feldman H, Feiden W, Kretzschmar HA, Trojanowski JQ, Lee VM (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314:130–133.
Article
CAS
PubMed
Google Scholar
Papadopoulou C, Boukakis G, Ganou V, Patrinou-Georgoula M, Guialis A (2012) Expression profile and interactions of hnRNP A3 within hnRNP/mRNP complexes in mammals. Arch Biochem Biophys 523:151–160
Article
CAS
PubMed
Google Scholar
Piñol-Roma S, Choi YD, Matunis MJ, Dreyfuss G (1988) Immunopurification of heterogeneous nuclear ribonucleoprotein particles reveals an assortment of RNA-binding proteins. Genes Dev 2:215–227.
Article
PubMed
Google Scholar
Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J, van Swieten JC, Seelaar H, Dopper EG, Onyike CU, Hillis AE, Josephs KA, Boeve BF, Kertesz A, Seeley WW, Rankin KP, Johnson JK, Gorno-Tempini ML, Rosen H, Prioleau-Latham CE, Lee A, Kipps CM, Lillo P, Piguet O, Rohrer JD, Rossor MN, Warren JD, Fox NC, Galasko D, Salmon DP, Black SE, Mesulam M, Weintraub S, Dickerson BC, Diehl-Schmid J, Pasquier F, Deramecourt V, Lebert F, Pijnenburg Y, Chow TW, Manes F, Grafman J, Cappa SF, Freedman M, Grossman M, Miller BL (2011) Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 134:2456–2471.
Article
PubMed
PubMed Central
Google Scholar
Seelen M, Visser AE, Overste DJ, Kim HJ, Palud A, Wong TH, van Swieten JC, Scheltens P, Voermans NC, Baas F, de Jong JM, van der Kooi AJ, de Visser M, Veldink JH, Taylor JP, Van Es MA, van den Berg LH (2014) No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. Neurobiol Aging 35:1956.e9–1956.e11.
Article
CAS
Google Scholar
Shi J, Shaw CL, Richardson AMT, Bailey K, Tian J, Varma AR, Neary D, Snowden JS, Mann DMA (2005) Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation. Acta Neuropathol 110:501–512.
Article
PubMed
Google Scholar
Snowden JS, Neary D, Mann DMA (2005) Frontotemporal dementia. Lancet Neurol 4:771–780.
Article
PubMed
Google Scholar
Snowden JS, Thompson JC, Stopford CL, Richardson AMT, Gerhard A, Neary D, Mann DMA (2011) The clinical diagnosis of early-onset dementias: diagnostic accuracy and clinicopathological relationships. Brain 135:693–708
Article
Google Scholar
Thompson JC, Stopford CL, Snowden JS, Neary D (2005) Qualitative neuropsychological performance characteristics in frontotemporal dementia and Alzheimer’s disease. J Neurol Neurosurg Psychiatr 76:920–927.
Article
CAS
PubMed
PubMed Central
Google Scholar