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Items: 1 to 50 of 124

1.

Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD.

Goodman LD, Prudencio M, Kramer NJ, Martinez-Ramirez LF, Srinivasan AR, Lan M, Parisi MJ, Zhu Y, Chew J, Cook CN, Berson A, Gitler AD, Petrucelli L, Bonini NM.

Nat Neurosci. 2019 Jun;22(6):863-874. doi: 10.1038/s41593-019-0396-1. Epub 2019 May 20.

PMID:
31110321
2.

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.

Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM.

Hum Genet. 2019 Jun;138(6):593-600. doi: 10.1007/s00439-019-02000-0. Epub 2019 Apr 13.

PMID:
30982135
3.

Loss of CREST leads to neuroinflammatory responses and ALS-like motor defects in mice.

Cheng C, Yang K, Wu X, Zhang Y, Shan S, Gitler A, Ghosh A, Qiu Z.

Transl Neurodegener. 2019 Apr 2;8:13. doi: 10.1186/s40035-019-0152-1. eCollection 2019.

4.

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.

Gelfman S, Dugger S, de Araujo Martins Moreno C, Ren Z, Wolock CJ, Shneider NA, Phatnani H, Cirulli ET, Lasseigne BN, Harris T, Maniatis T, Rouleau GA, Brown RH Jr, Gitler AD, Myers RM, Petrovski S, Allen A, Goldstein DB, Harms MB.

Genome Res. 2019 May;29(5):809-818. doi: 10.1101/gr.243592.118. Epub 2019 Apr 2.

PMID:
30940688
5.

LRRK2 modifies α-syn pathology and spread in mouse models and human neurons.

Bieri G, Brahic M, Bousset L, Couthouis J, Kramer NJ, Ma R, Nakayama L, Monbureau M, Defensor E, Schüle B, Shamloo M, Melki R, Gitler AD.

Acta Neuropathol. 2019 Jun;137(6):961-980. doi: 10.1007/s00401-019-01995-0. Epub 2019 Mar 29.

6.

Spontaneous driving forces give rise to protein-RNA condensates with coexisting phases and complex material properties.

Boeynaems S, Holehouse AS, Weinhardt V, Kovacs D, Van Lindt J, Larabell C, Van Den Bosch L, Das R, Tompa PS, Pappu RV, Gitler AD.

Proc Natl Acad Sci U S A. 2019 Apr 16;116(16):7889-7898. doi: 10.1073/pnas.1821038116. Epub 2019 Mar 29.

7.

Identification and functional analysis of novel mutations in the SOD1 gene in Chinese patients with amyotrophic lateral sclerosis.

Lin HX, Tao QQ, Wei Q, Chen CX, Chen YC, Li HF, Gitler AD, Wu ZY.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):222-228. doi: 10.1080/21678421.2019.1582668. Epub 2019 Mar 19.

PMID:
30887850
8.

In search of lost trafficking.

Bechek SC, Gitler AD.

Brain. 2018 Dec 1;141(12):3282-3285. doi: 10.1093/brain/awy294. No abstract available.

PMID:
30496362
9.

A neurodegenerative-disease protein forms beneficial aggregates in healthy muscle.

Becker LA, Gitler AD.

Nature. 2018 Nov;563(7732):477-478. doi: 10.1038/d41586-018-07141-2. No abstract available.

PMID:
30459367
10.

Pour Some Sugar on TDP(-43).

Boeynaems S, Gitler AD.

Mol Cell. 2018 Sep 6;71(5):649-651. doi: 10.1016/j.molcel.2018.08.032.

PMID:
30193092
11.

A matter of balance.

Gitler AD, Fryer JD.

Elife. 2018 Aug 21;7. pii: e40034. doi: 10.7554/eLife.40034.

12.

These violent repeats have violent extends.

Couthouis J, Gitler AD.

Neurol Genet. 2018 Aug 1;4(4):e247. doi: 10.1212/NXG.0000000000000247. eCollection 2018 Aug. No abstract available.

13.

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.

Zhang YJ, Gendron TF, Ebbert MTW, O'Raw AD, Yue M, Jansen-West K, Zhang X, Prudencio M, Chew J, Cook CN, Daughrity LM, Tong J, Song Y, Pickles SR, Castanedes-Casey M, Kurti A, Rademakers R, Oskarsson B, Dickson DW, Hu W, Gitler AD, Fryer JD, Petrucelli L.

Nat Med. 2018 Aug;24(8):1136-1142. doi: 10.1038/s41591-018-0071-1. Epub 2018 Jun 25.

14.

Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.

Lu C, Li LX, Dong HL, Wei Q, Liu ZJ, Ni W, Gitler AD, Wu ZY.

J Mol Med (Berl). 2018 Jul;96(7):701-712. doi: 10.1007/s00109-018-1655-4. Epub 2018 Jun 11.

PMID:
29934652
15.

Hunting the G-unit in Huntington's.

Huang B, Gitler AD.

Brain. 2018 Jun 1;141(6):1586-1589. doi: 10.1093/brain/awy112. No abstract available.

PMID:
29800473
16.

Ataxin-2 Is Droppin' Some Knowledge.

Becker LA, Gitler AD.

Neuron. 2018 May 16;98(4):673-675. doi: 10.1016/j.neuron.2018.05.002.

17.

Phosphorylation Leads the Way for Protein Aggregate Disassembly.

Boeynaems S, Gitler AD.

Dev Cell. 2018 May 7;45(3):279-281. doi: 10.1016/j.devcel.2018.04.017.

18.

Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains.

Guo L, Kim HJ, Wang H, Monaghan J, Freyermuth F, Sung JC, O'Donovan K, Fare CM, Diaz Z, Singh N, Zhang ZC, Coughlin M, Sweeny EA, DeSantis ME, Jackrel ME, Rodell CB, Burdick JA, King OD, Gitler AD, Lagier-Tourenne C, Pandey UB, Chook YM, Taylor JP, Shorter J.

Cell. 2018 Apr 19;173(3):677-692.e20. doi: 10.1016/j.cell.2018.03.002.

19.

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport.

Zhang K, Daigle JG, Cunningham KM, Coyne AN, Ruan K, Grima JC, Bowen KE, Wadhwa H, Yang P, Rigo F, Taylor JP, Gitler AD, Rothstein JD, Lloyd TE.

Cell. 2018 May 3;173(4):958-971.e17. doi: 10.1016/j.cell.2018.03.025. Epub 2018 Apr 5.

20.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

21.

Yeast screen for modifiers of C9orf72 poly(glycine-arginine) dipeptide repeat toxicity.

Chai N, Gitler AD.

FEMS Yeast Res. 2018 Jun 1;18(4). doi: 10.1093/femsyr/foy024.

22.

CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity.

Kramer NJ, Haney MS, Morgens DW, Jovičić A, Couthouis J, Li A, Ousey J, Ma R, Bieri G, Tsui CK, Shi Y, Hertz NT, Tessier-Lavigne M, Ichida JK, Bassik MC, Gitler AD.

Nat Genet. 2018 Apr;50(4):603-612. doi: 10.1038/s41588-018-0070-7. Epub 2018 Mar 5.

23.

The epidemiology and genetics of Amyotrophic lateral sclerosis in China.

Liu X, He J, Gao FB, Gitler AD, Fan D.

Brain Res. 2018 Aug 15;1693(Pt A):121-126. doi: 10.1016/j.brainres.2018.02.035. Epub 2018 Mar 1. Review.

24.

A pilot study of a novel therapeutic approach to obesity: CNS modification by N.I.R. H.E.G. neurofeedback.

Percik R, Cina J, Even B, Gitler A, Geva D, Seluk L, Livny A.

Clin Nutr. 2019 Feb;38(1):258-263. doi: 10.1016/j.clnu.2018.01.023. Epub 2018 Feb 15.

PMID:
29428788
25.

Glycolytic Enzymes Coalesce in G Bodies under Hypoxic Stress.

Jin M, Fuller GG, Han T, Yao Y, Alessi AF, Freeberg MA, Roach NP, Moresco JJ, Karnovsky A, Baba M, Yates JR 3rd, Gitler AD, Inoki K, Klionsky DJ, Kim JK.

Cell Rep. 2017 Jul 25;20(4):895-908. doi: 10.1016/j.celrep.2017.06.082.

26.

Efficient Prevention of Neurodegenerative Diseases by Depletion of Starvation Response Factor Ataxin-2.

Auburger G, Sen NE, Meierhofer D, Başak AN, Gitler AD.

Trends Neurosci. 2017 Aug;40(8):507-516. doi: 10.1016/j.tins.2017.06.004. Epub 2017 Jul 3. Review.

PMID:
28684172
27.

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.

Joly P, Vignaud H, Di Martino J, Ruiz M, Garin R, Restier L, Belmalih A, Marchal C, Cullin C, Arveiler B, Fergelot P, Gitler AD, Lachaux A, Couthouis J, Bouchecareilh M.

PLoS One. 2017 Jun 15;12(6):e0179369. doi: 10.1371/journal.pone.0179369. eCollection 2017.

28.

Unlocking the Mystery of ALS.

Petrucelli L, Gitler AD.

Sci Am. 2017 May 16;316(6):46-51. doi: 10.1038/scientificamerican0617-46. No abstract available.

PMID:
28510559
29.

Neurodegenerative disease: models, mechanisms, and a new hope.

Gitler AD, Dhillon P, Shorter J.

Dis Model Mech. 2017 May 1;10(5):499-502. doi: 10.1242/dmm.030205.

30.

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice.

Becker LA, Huang B, Bieri G, Ma R, Knowles DA, Jafar-Nejad P, Messing J, Kim HJ, Soriano A, Auburger G, Pulst SM, Taylor JP, Rigo F, Gitler AD.

Nature. 2017 Apr 20;544(7650):367-371. doi: 10.1038/nature22038. Epub 2017 Apr 12.

31.

Internalization, axonal transport and release of fibrillar forms of alpha-synuclein.

Bieri G, Gitler AD, Brahic M.

Neurobiol Dis. 2018 Jan;109(Pt B):219-225. doi: 10.1016/j.nbd.2017.03.007. Epub 2017 Mar 16. Review.

32.

Old moms say, no Sir.

Gitler AD, Jarosz DF.

Science. 2017 Mar 17;355(6330):1126-1127. doi: 10.1126/science.aam9740. Epub 2017 Mar 16. No abstract available.

PMID:
28302810
33.

Distinct repertoires of microRNAs present in mouse astrocytes compared to astrocyte-secreted exosomes.

Jovičić A, Gitler AD.

PLoS One. 2017 Feb 2;12(2):e0171418. doi: 10.1371/journal.pone.0171418. eCollection 2017.

34.

Raise the Roof: Boosting the Efficacy of a Spinal Muscular Atrophy Therapy.

Kramer NJ, Gitler AD.

Neuron. 2017 Jan 4;93(1):3-5. doi: 10.1016/j.neuron.2016.12.029.

35.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24.

36.

Susan Lee Lindquist (1949-2016).

Shorter J, Gitler AD.

Nature. 2016 Nov 30;540(7631):40. doi: 10.1038/540040a. No abstract available.

PMID:
27905439
37.

Defects in trafficking bridge Parkinson's disease pathology and genetics.

Abeliovich A, Gitler AD.

Nature. 2016 Nov 10;539(7628):207-216. doi: 10.1038/nature20414. Review.

PMID:
27830778
38.

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.

39.

Regrowing axons with alternative splicing.

Kramer NJ, Gitler AD.

Elife. 2016 Jul 15;5. pii: e18707. doi: 10.7554/eLife.18707.

40.

Semisynthetic and in Vitro Phosphorylation of Alpha-Synuclein at Y39 Promotes Functional Partly Helical Membrane-Bound States Resembling Those Induced by PD Mutations.

Dikiy I, Fauvet B, Jovičić A, Mahul-Mellier AL, Desobry C, El-Turk F, Gitler AD, Lashuel HA, Eliezer D.

ACS Chem Biol. 2016 Sep 16;11(9):2428-37. doi: 10.1021/acschembio.6b00539. Epub 2016 Jul 11.

41.

Activation of HIPK2 Promotes ER Stress-Mediated Neurodegeneration in Amyotrophic Lateral Sclerosis.

Lee S, Shang Y, Redmond SA, Urisman A, Tang AA, Li KH, Burlingame AL, Pak RA, Jovičić A, Gitler AD, Wang J, Gray NS, Seeley WW, Siddique T, Bigio EH, Lee VM, Trojanowski JQ, Chan JR, Huang EJ.

Neuron. 2016 Jul 6;91(1):41-55. doi: 10.1016/j.neuron.2016.05.021. Epub 2016 Jun 16.

42.

Nuclear transport dysfunction: a common theme in amyotrophic lateral sclerosis and frontotemporal dementia.

Jovičić A, Paul JW 3rd, Gitler AD.

J Neurochem. 2016 Aug;138 Suppl 1:134-44. doi: 10.1111/jnc.13642. Epub 2016 Jun 15. Review.

43.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Muñoz-Blanco JL, Esteban-Pérez J, Rábano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, García-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP.

Nat Commun. 2016 Apr 15;7:11253. doi: 10.1038/ncomms11253.

44.

There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS.

Gitler AD, Tsuiji H.

Brain Res. 2016 Sep 15;1647:19-29. doi: 10.1016/j.brainres.2016.04.004. Epub 2016 Apr 6. Review.

45.

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.

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.

Sci Rep. 2016 Feb 12;6:20877. doi: 10.1038/srep20877.

46.

Axonal transport and secretion of fibrillar forms of α-synuclein, Aβ42 peptide and HTTExon 1.

Brahic M, Bousset L, Bieri G, Melki R, Gitler AD.

Acta Neuropathol. 2016 Apr;131(4):539-48. doi: 10.1007/s00401-016-1538-0. Epub 2016 Jan 28.

47.

Analysis of COPII Vesicles Indicates a Role for the Emp47-Ssp120 Complex in Transport of Cell Surface Glycoproteins.

Margulis NG, Wilson JD, Bentivoglio CM, Dhungel N, Gitler AD, Barlowe C.

Traffic. 2016 Mar;17(3):191-210. doi: 10.1111/tra.12356. Epub 2016 Jan 10.

48.

Fragile X protein mitigates TDP-43 toxicity by remodeling RNA granules and restoring translation.

Coyne AN, Yamada SB, Siddegowda BB, Estes PS, Zaepfel BL, Johannesmeyer JS, Lockwood DB, Pham LT, Hart MP, Cassel JA, Freibaum B, Boehringer AV, Taylor JP, Reitz AB, Gitler AD, Zarnescu DC.

Hum Mol Genet. 2015 Dec 15;24(24):6886-98. doi: 10.1093/hmg/ddv389. Epub 2015 Sep 18.

49.

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

Jovičić A, Mertens J, Boeynaems S, Bogaert E, Chai N, Yamada SB, Paul JW 3rd, Sun S, Herdy JR, Bieri G, Kramer NJ, Gage FH, Van Den Bosch L, Robberecht W, Gitler AD.

Nat Neurosci. 2015 Sep;18(9):1226-9. doi: 10.1038/nn.4085.

50.

Neurodegeneration: A Leg Up on TDP-43.

Figley MD, Gitler AD.

Curr Biol. 2015 Aug 17;25(16):R728-31. doi: 10.1016/j.cub.2015.06.064.

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