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Items: 28

1.

Tau exhibits unique seeding properties in globular glial tauopathy.

Chung DC, Carlomagno Y, Cook CN, Jansen-West K, Daughrity L, Lewis-Tuffin LJ, Castanedes-Casey M, DeTure M, Dickson DW, Petrucelli L.

Acta Neuropathol Commun. 2019 Mar 7;7(1):36. doi: 10.1186/s40478-019-0691-9.

2.

Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity.

Zhang YJ, Guo L, Gonzales PK, Gendron TF, Wu Y, Jansen-West K, O'Raw AD, Pickles SR, Prudencio M, Carlomagno Y, Gachechiladze MA, Ludwig C, Tian R, Chew J, DeTure M, Lin WL, Tong J, Daughrity LM, Yue M, Song Y, Andersen JW, Castanedes-Casey M, Kurti A, Datta A, Antognetti G, McCampbell A, Rademakers R, Oskarsson B, Dickson DW, Kampmann M, Ward ME, Fryer JD, Link CD, Shorter J, Petrucelli L.

Science. 2019 Feb 15;363(6428). pii: eaav2606. doi: 10.1126/science.aav2606.

3.

Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant.

Carlomagno Y, Chung DC, Yue M, Kurti A, Avendano NM, Castanedes-Casey M, Hinkle KM, Jansen-West K, Daughrity LM, Tong J, Phillips V, Rademakers R, DeTure M, Fryer JD, Dickson DW, Petrucelli L, Cook C.

Acta Neuropathol Commun. 2019 Jan 23;7(1):10. doi: 10.1186/s40478-019-0661-2.

4.

Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer's Disease.

Eftekharzadeh B, Daigle JG, Kapinos LE, Coyne A, Schiantarelli J, Carlomagno Y, Cook C, Miller SJ, Dujardin S, Amaral AS, Grima JC, Bennett RE, Tepper K, DeTure M, Vanderburg CR, Corjuc BT, DeVos SL, Gonzalez JA, Chew J, Vidensky S, Gage FH, Mertens J, Troncoso J, Mandelkow E, Salvatella X, Lim RYH, Petrucelli L, Wegmann S, Rothstein JD, Hyman BT.

Neuron. 2019 Jan 16;101(2):349. doi: 10.1016/j.neuron.2018.12.031. No abstract available.

5.

Heavy Metal Neurotoxicants Induce ALS-Linked TDP-43 Pathology.

Ash PEA, Dhawan U, Boudeau S, Lei S, Carlomagno Y, Knobel M, Al Mohanna LFA, Boomhower SR, Newland MC, Sherr DH, Wolozin B.

Toxicol Sci. 2019 Jan 1;167(1):105-115. doi: 10.1093/toxsci/kfy267.

PMID:
30371865
6.

Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer's Disease.

Eftekharzadeh B, Daigle JG, Kapinos LE, Coyne A, Schiantarelli J, Carlomagno Y, Cook C, Miller SJ, Dujardin S, Amaral AS, Grima JC, Bennett RE, Tepper K, DeTure M, Vanderburg CR, Corjuc BT, DeVos SL, Gonzalez JA, Chew J, Vidensky S, Gage FH, Mertens J, Troncoso J, Mandelkow E, Salvatella X, Lim RYH, Petrucelli L, Wegmann S, Rothstein JD, Hyman BT.

Neuron. 2018 Sep 5;99(5):925-940.e7. doi: 10.1016/j.neuron.2018.07.039. Erratum in: Neuron. 2019 Jan 16;101(2):349.

7.

An acetylation-phosphorylation switch that regulates tau aggregation propensity and function.

Carlomagno Y, Chung DC, Yue M, Castanedes-Casey M, Madden BJ, Dunmore J, Tong J, DeTure M, Dickson DW, Petrucelli L, Cook C.

J Biol Chem. 2017 Sep 15;292(37):15277-15286. doi: 10.1074/jbc.M117.794602. Epub 2017 Jul 31.

8.

The lysosomal protein cathepsin L is a progranulin protease.

Lee CW, Stankowski JN, Chew J, Cook CN, Lam YW, Almeida S, Carlomagno Y, Lau KF, Prudencio M, Gao FB, Bogyo M, Dickson DW, Petrucelli L.

Mol Neurodegener. 2017 Jul 25;12(1):55. doi: 10.1186/s13024-017-0196-6.

9.

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.

Gendron TF, Chew J, Stankowski JN, Hayes LR, Zhang YJ, Prudencio M, Carlomagno Y, Daughrity LM, Jansen-West K, Perkerson EA, O'Raw A, Cook C, Pregent L, Belzil V, van Blitterswijk M, Tabassian LJ, Lee CW, Yue M, Tong J, Song Y, Castanedes-Casey M, Rousseau L, Phillips V, Dickson DW, Rademakers R, Fryer JD, Rush BK, Pedraza O, Caputo AM, Desaro P, Palmucci C, Robertson A, Heckman MG, Diehl NN, Wiggs E, Tierney M, Braun L, Farren J, Lacomis D, Ladha S, Fournier CN, McCluskey LF, Elman LB, Toledo JB, McBride JD, Tiloca C, Morelli C, Poletti B, Solca F, Prelle A, Wuu J, Jockel-Balsarotti J, Rigo F, Ambrose C, Datta A, Yang W, Raitcheva D, Antognetti G, McCampbell A, Van Swieten JC, Miller BL, Boxer AL, Brown RH, Bowser R, Miller TM, Trojanowski JQ, Grossman M, Berry JD, Hu WT, Ratti A, Traynor BJ, Disney MD, Benatar M, Silani V, Glass JD, Floeter MK, Rothstein JD, Boylan KB, Petrucelli L.

Sci Transl Med. 2017 Mar 29;9(383). pii: eaai7866. doi: 10.1126/scitranslmed.aai7866.

10.

FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.

Tacik P, DeTure MA, Carlomagno Y, Lin WL, Murray ME, Baker MC, Josephs KA, Boeve BF, Wszolek ZK, Graff-Radford NR, Parisi JE, Petrucelli L, Rademakers R, Isaacson RS, Heilman KM, Petersen RC, Dickson DW, Kouri N.

Brain Pathol. 2017 Sep;27(5):612-626. doi: 10.1111/bpa.12428. Epub 2016 Oct 5.

11.

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts.

Kramer NJ, Carlomagno Y, Zhang YJ, Almeida S, Cook CN, Gendron TF, Prudencio M, Van Blitterswijk M, Belzil V, Couthouis J, Paul JW 3rd, Goodman LD, Daughrity L, Chew J, Garrett A, Pregent L, Jansen-West K, Tabassian LJ, Rademakers R, Boylan K, Graff-Radford NR, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Deng N, Feng Y, Cheng TH, Dickson DW, Cohen SN, Bonini NM, Link CD, Gao FB, Petrucelli L, Gitler AD.

Science. 2016 Aug 12;353(6300):708-12. doi: 10.1126/science.aaf7791.

12.

A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease.

Tacik P, DeTure M, Hinkle KM, Lin WL, Sanchez-Contreras M, Carlomagno Y, Pedraza O, Rademakers R, Ross OA, Wszolek ZK, Dickson DW.

J Neuropathol Exp Neurol. 2015 Nov;74(11):1042-52. doi: 10.1097/NEN.0000000000000248.

13.

Tau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse model.

Cook C, Kang SS, Carlomagno Y, Lin WL, Yue M, Kurti A, Shinohara M, Jansen-West K, Perkerson E, Castanedes-Casey M, Rousseau L, Phillips V, Bu G, Dickson DW, Petrucelli L, Fryer JD.

Hum Mol Genet. 2015 Nov 1;24(21):6198-212. doi: 10.1093/hmg/ddv336. Epub 2015 Aug 13.

14.

A novel tau mutation, p.K317N, causes globular glial tauopathy.

Tacik P, DeTure M, Lin WL, Sanchez Contreras M, Wojtas A, Hinkle KM, Fujioka S, Baker MC, Walton RL, Carlomagno Y, Brown PH, Strongosky AJ, Kouri N, Murray ME, Petrucelli L, Josephs KA, Rademakers R, Ross OA, Wszolek ZK, Dickson DW.

Acta Neuropathol. 2015 Aug;130(2):199-214. doi: 10.1007/s00401-015-1425-0. Epub 2015 Apr 22.

15.

Acetylation: a new key to unlock tau's role in neurodegeneration.

Cook C, Stankowski JN, Carlomagno Y, Stetler C, Petrucelli L.

Alzheimers Res Ther. 2014 May 29;6(3):29. doi: 10.1186/alzrt259. eCollection 2014. Review.

16.

Casein kinase II induced polymerization of soluble TDP-43 into filaments is inhibited by heat shock proteins.

Carlomagno Y, Zhang Y, Davis M, Lin WL, Cook C, Dunmore J, Tay W, Menkosky K, Cao X, Petrucelli L, Deture M.

PLoS One. 2014 Mar 4;9(3):e90452. doi: 10.1371/journal.pone.0090452. eCollection 2014. Erratum in: PLoS One. 2014;9(6):e100026.

17.

Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration.

Kouri N, Carlomagno Y, Baker M, Liesinger AM, Caselli RJ, Wszolek ZK, Petrucelli L, Boeve BF, Parisi JE, Josephs KA, Uitti RJ, Ross OA, Graff-Radford NR, DeTure MA, Dickson DW, Rademakers R.

Acta Neuropathol. 2014 Feb;127(2):271-82.

18.

Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance.

Cook C, Carlomagno Y, Gendron TF, Dunmore J, Scheffel K, Stetler C, Davis M, Dickson D, Jarpe M, DeTure M, Petrucelli L.

Hum Mol Genet. 2014 Jan 1;23(1):104-16. doi: 10.1093/hmg/ddt402. Epub 2013 Aug 19.

19.

Robust cytoplasmic accumulation of phosphorylated TDP-43 in transgenic models of tauopathy.

Clippinger AK, D'Alton S, Lin WL, Gendron TF, Howard J, Borchelt DR, Cannon A, Carlomagno Y, Chakrabarty P, Cook C, Golde TE, Levites Y, Ranum L, Schultheis PJ, Xu G, Petrucelli L, Sahara N, Dickson DW, Giasson B, Lewis J.

Acta Neuropathol. 2013 Jul;126(1):39-50. doi: 10.1007/s00401-013-1123-8. Epub 2013 May 11.

20.

The role of eight polymorphisms in three candidate genes in determining the susceptibility, phenotype, and response to anti-TNF therapy in patients with rheumatoid arthritis.

Ceccarelli F, D'Alfonso S, Perricone C, Carlomagno Y, Alessandri C, Croia C, Barizzone N, Montecucco C, Galeazzi M, Sebastiani GD, Minisola G, Fiocco U, Valesini G.

Clin Exp Rheumatol. 2012 Nov-Dec;30(6):939-42. Epub 2012 Dec 17.

PMID:
22992305
21.

TDP-1/TDP-43 regulates stress signaling and age-dependent proteotoxicity in Caenorhabditis elegans.

Vaccaro A, Tauffenberger A, Ash PE, Carlomagno Y, Petrucelli L, Parker JA.

PLoS Genet. 2012 Jul;8(7):e1002806. doi: 10.1371/journal.pgen.1002806. Epub 2012 Jul 5.

22.

Loss of HDAC6, a novel CHIP substrate, alleviates abnormal tau accumulation.

Cook C, Gendron TF, Scheffel K, Carlomagno Y, Dunmore J, DeTure M, Petrucelli L.

Hum Mol Genet. 2012 Jul 1;21(13):2936-45. doi: 10.1093/hmg/dds125. Epub 2012 Apr 5.

23.

VPS54 genetic analysis in ALS Italian cohort.

Corrado L, Gagliardi S, Carlomagno Y, Mennini T, Ticozzi N, Mazzini L, Silani V, Cereda C, D'Alfonso S.

Eur J Neurol. 2011 Apr;18(4):e41-2. doi: 10.1111/j.1468-1331.2010.03260.x. Epub 2010 Nov 19. No abstract available.

PMID:
21087364
24.

A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.

Corrado L, Carlomagno Y, Falasco L, Mellone S, Godi M, Cova E, Cereda C, Testa L, Mazzini L, D'Alfonso S.

Neurobiol Aging. 2011 Mar;32(3):552.e1-6. doi: 10.1016/j.neurobiolaging.2010.02.011. Epub 2010 Apr 3.

PMID:
20363051
25.

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.

Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, SorarĂ¹ G, Carlomagno Y, Ghezzi S, Pensato V, Colombrita C, Gagliardi S, Cozzi L, Orsetti V, Mancuso M, Siciliano G, Mazzini L, Comi GP, Gellera C, Ceroni M, D'Alfonso S, Silani V.

J Med Genet. 2010 Mar;47(3):190-4. doi: 10.1136/jmg.2009.071027. Epub 2009 Oct 26.

PMID:
19861302
26.

A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency.

Carlomagno Y, Salerno M, Vivenza D, Capalbo D, Godi M, Mellone S, Tiradani L, Corneli G, Momigliano-Richiardi P, Bona G, Giordano M.

J Endocrinol Invest. 2009 Sep;32(8):653-8. doi: 10.1007/BF03345736. Epub 2009 May 12.

PMID:
19498317
27.

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Corrado L, Ratti A, Gellera C, Buratti E, Castellotti B, Carlomagno Y, Ticozzi N, Mazzini L, Testa L, Taroni F, Baralle FE, Silani V, D'Alfonso S.

Hum Mutat. 2009 Apr;30(4):688-94. doi: 10.1002/humu.20950.

PMID:
19224587
28.

A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency.

Giordano M, Godi M, Mellone S, Petri A, Vivenza D, Tiradani L, Carlomagno Y, Ferrante D, Arrigo T, Corneli G, Bellone S, Giacopelli F, Santoro C, Bona G, Momigliano-Richiardi P.

J Clin Endocrinol Metab. 2008 Mar;93(3):1005-12. Epub 2007 Dec 26.

PMID:
18160466

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