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Items: 22

1.

Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis.

Giampetruzzi A, Danielson EW, Gumina V, Jeon M, Boopathy S, Brown RH, Ratti A, Landers JE, Fallini C.

Nat Commun. 2019 Aug 23;10(1):3827. doi: 10.1038/s41467-019-11837-y.

2.

TDP-43 and NOVA-1 RNA-binding proteins as competitive splicing regulators of the schizophrenia-associated TNIK gene.

Gumina V, Colombrita C, Fallini C, Bossolasco P, Maraschi AM, Landers JE, Silani V, Ratti A.

Biochim Biophys Acta Gene Regul Mech. 2019 Sep;1862(9):194413. doi: 10.1016/j.bbagrm.2019.194413. Epub 2019 Aug 2.

PMID:
31382054
3.

The RNA-binding protein FUS/TLS undergoes calcium-mediated nuclear egress during excitotoxic stress and is required for GRIA2 mRNA processing.

Tischbein M, Baron DM, Lin YC, Gall KV, Landers JE, Fallini C, Bosco DA.

J Biol Chem. 2019 Jun 28;294(26):10194-10210. doi: 10.1074/jbc.RA118.005933. Epub 2019 May 15.

PMID:
31092554
4.

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, Wong CH, de Majo M, Kattuah W, Mitchell JC, Scotter EL, Parkin NW, Sapp PC, Nolan M, Nestor PJ, Simpson M, Weale M, Lek M, Baas F, Vianney de Jong JM, Ten Asbroek ALMA, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Leigh N, Pall H, Morrison KE, Al-Chalabi A, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, De Belleroche J, Maki M, Moss SE, Miller C, Gellera C, Ratti A, Al-Sarraj S, Brown RH Jr, Silani V, Landers JE, Shaw CE.

Sci Transl Med. 2017 May 3;9(388). pii: eaad9157. doi: 10.1126/scitranslmed.aad9157.

5.

A Drosophila model of ALS reveals a partial loss of function of causative human PFN1 mutants.

Wu CH, Giampetruzzi A, Tran H, Fallini C, Gao FB, Landers JE.

Hum Mol Genet. 2017 Jun 1;26(11):2146-2155. doi: 10.1093/hmg/ddx112.

6.

ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activation.

Sama RR, Fallini C, Gatto R, McKeon JE, Song Y, Rotunno MS, Penaranda S, Abdurakhmanov I, Landers JE, Morfini G, Brady ST, Bosco DA.

Sci Rep. 2017 Mar 8;7(1):115. doi: 10.1038/s41598-017-00091-1.

7.

The Survival of Motor Neuron Protein Acts as a Molecular Chaperone for mRNP Assembly.

Donlin-Asp PG, Fallini C, Campos J, Chou CC, Merritt ME, Phan HC, Bassell GJ, Rossoll W.

Cell Rep. 2017 Feb 14;18(7):1660-1673. doi: 10.1016/j.celrep.2017.01.059.

8.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium, Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE.

Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25.

9.

Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons.

Fallini C, Donlin-Asp PG, Rouanet JP, Bassell GJ, Rossoll W.

J Neurosci. 2016 Mar 30;36(13):3811-20. doi: 10.1523/JNEUROSCI.2396-15.2016.

10.

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE.

Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22.

11.

Dynamics of survival of motor neuron (SMN) protein interaction with the mRNA-binding protein IMP1 facilitates its trafficking into motor neuron axons.

Fallini C, Rouanet JP, Donlin-Asp PG, Guo P, Zhang H, Singer RH, Rossoll W, Bassell GJ.

Dev Neurobiol. 2014 Mar;74(3):319-332. doi: 10.1002/dneu.22111. Epub 2013 Oct 4.

12.

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.

Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE.

Nature. 2012 Aug 23;488(7412):499-503. doi: 10.1038/nature11280.

13.

Coaggregation of RNA-binding proteins in a model of TDP-43 proteinopathy with selective RGG motif methylation and a role for RRM1 ubiquitination.

Dammer EB, Fallini C, Gozal YM, Duong DM, Rossoll W, Xu P, Lah JJ, Levey AI, Peng J, Bassell GJ, Seyfried NT.

PLoS One. 2012;7(6):e38658. doi: 10.1371/journal.pone.0038658. Epub 2012 Jun 21.

14.

The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth.

Fallini C, Bassell GJ, Rossoll W.

Hum Mol Genet. 2012 Aug 15;21(16):3703-18. doi: 10.1093/hmg/dds205. Epub 2012 May 28.

15.

Spinal muscular atrophy: the role of SMN in axonal mRNA regulation.

Fallini C, Bassell GJ, Rossoll W.

Brain Res. 2012 Jun 26;1462:81-92. doi: 10.1016/j.brainres.2012.01.044. Epub 2012 Jan 28. Review.

16.

The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.

Fallini C, Zhang H, Su Y, Silani V, Singer RH, Rossoll W, Bassell GJ.

J Neurosci. 2011 Mar 9;31(10):3914-25. doi: 10.1523/JNEUROSCI.3631-10.2011.

17.

High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function.

Fallini C, Bassell GJ, Rossoll W.

Mol Neurodegener. 2010 Apr 21;5:17. doi: 10.1186/1750-1326-5-17.

18.

TDP-43 is recruited to stress granules in conditions of oxidative insult.

Colombrita C, Zennaro E, Fallini C, Weber M, Sommacal A, Buratti E, Silani V, Ratti A.

J Neurochem. 2009 Nov;111(4):1051-61. doi: 10.1111/j.1471-4159.2009.06383.x. Epub 2009 Sep 16.

19.

Post-transcriptional regulation of neuro-oncological ventral antigen 1 by the neuronal RNA-binding proteins ELAV.

Ratti A, Fallini C, Colombrita C, Pascale A, Laforenza U, Quattrone A, Silani V.

J Biol Chem. 2008 Mar 21;283(12):7531-41. doi: 10.1074/jbc.M706082200. Epub 2008 Jan 24.

20.

The 3' untranslated region of human Cyclin-Dependent Kinase 5 Regulatory subunit 1 contains regulatory elements affecting transcript stability.

Moncini S, Bevilacqua A, Venturin M, Fallini C, Ratti A, Nicolin A, Riva P.

BMC Mol Biol. 2007 Dec 3;8:111.

21.

A role for the ELAV RNA-binding proteins in neural stem cells: stabilization of Msi1 mRNA.

Ratti A, Fallini C, Cova L, Fantozzi R, Calzarossa C, Zennaro E, Pascale A, Quattrone A, Silani V.

J Cell Sci. 2006 Apr 1;119(Pt 7):1442-52.

22.

Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.

Fugazzola L, Cerutti N, Mannavola D, Vannucchi G, Fallini C, Persani L, Beck-Peccoz P.

J Clin Endocrinol Metab. 2003 Jul;88(7):3264-71.

PMID:
12843174

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