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Items: 1 to 20 of 114

1.

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.

PMID:
29566793
2.

Hot-spot KIF5A mutations cause familial ALS.

Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D; German ALS network MND-NET , Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH.

Brain. 2018 Jan 12. doi: 10.1093/brain/awx370. [Epub ahead of print]

3.

Prion protein inhibits fast axonal transport through a mechanism involving casein kinase 2.

Zamponi E, Buratti F, Cataldi G, Caicedo HH, Song Y, Jungbauer LM, LaDu MJ, Bisbal M, Lorenzo A, Ma J, Helguera PR, Morfini GA, Brady ST, Pigino GF.

PLoS One. 2017 Dec 20;12(12):e0188340. doi: 10.1371/journal.pone.0188340. eCollection 2017.

4.

Characterization of kinesin switch I mutations that cause hereditary spastic paraplegia.

Jennings S, Chenevert M, Liu L, Mottamal M, Wojcik EJ, Huckaba TM.

PLoS One. 2017 Jul 5;12(7):e0180353. doi: 10.1371/journal.pone.0180353. eCollection 2017.

5.

Kinesin Processivity Is Determined by a Kinetic Race from a Vulnerable One-Head-Bound State.

Mickolajczyk KJ, Hancock WO.

Biophys J. 2017 Jun 20;112(12):2615-2623. doi: 10.1016/j.bpj.2017.05.007.

PMID:
28636917
6.

Rare disease models provide insight into inherited forms of neurodegeneration.

Fowler PC, Byrne DJ, O'Sullivan NC.

J Rare Dis Res Treat. 2016;1(3):17-21.

7.

Regulation of motor proteins, axonal transport deficits and adult-onset neurodegenerative diseases.

Brady ST, Morfini GA.

Neurobiol Dis. 2017 Sep;105:273-282. doi: 10.1016/j.nbd.2017.04.010. Epub 2017 Apr 11. Review.

PMID:
28411118
8.

A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.

Guinto CO, Diarra S, Diallo S, Cissé L, Coulibaly T, Diallo SH, Taméga A, Chen KL, Schindler AB, Bagayoko K, Simaga A, Blackstone C, Fischbeck KH, Landouré G.

Ann Clin Transl Neurol. 2017 Mar 21;4(4):272-275. doi: 10.1002/acn3.402. eCollection 2017 Apr.

9.

BORC/kinesin-1 ensemble drives polarized transport of lysosomes into the axon.

Farías GG, Guardia CM, De Pace R, Britt DJ, Bonifacino JS.

Proc Natl Acad Sci U S A. 2017 Apr 4;114(14):E2955-E2964. doi: 10.1073/pnas.1616363114. Epub 2017 Mar 20.

10.

Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.

Geuens T, De Winter V, Rajan N, Achsel T, Mateiu L, Almeida-Souza L, Asselbergh B, Bouhy D, Auer-Grumbach M, Bagni C, Timmerman V.

Acta Neuropathol Commun. 2017 Jan 11;5(1):5. doi: 10.1186/s40478-016-0407-3.

11.

HIV Glycoprotein Gp120 Impairs Fast Axonal Transport by Activating Tak1 Signaling Pathways.

Berth SH, Mesnard-Hoaglin N, Wang B, Kim H, Song Y, Sapar M, Morfini G, Brady ST.

ASN Neuro. 2016 Nov 20;8(6). pii: 1759091416679073. Print 2016 Dec.

12.

Mechanisms and functions of lysosome positioning.

Pu J, Guardia CM, Keren-Kaplan T, Bonifacino JS.

J Cell Sci. 2016 Dec 1;129(23):4329-4339. Epub 2016 Oct 31. Review.

13.

The Presynaptic Microtubule Cytoskeleton in Physiological and Pathological Conditions: Lessons from Drosophila Fragile X Syndrome and Hereditary Spastic Paraplegias.

Bodaleo FJ, Gonzalez-Billault C.

Front Mol Neurosci. 2016 Jul 25;9:60. doi: 10.3389/fnmol.2016.00060. eCollection 2016. Review.

14.

KIF1A mediates axonal transport of BACE1 and identification of independently moving cargoes in living SCG neurons.

Hung CO, Coleman MP.

Traffic. 2016 Nov;17(11):1155-1167. doi: 10.1111/tra.12428. Epub 2016 Oct 5.

15.

Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish.

Kozol RA, Abrams AJ, James DM, Buglo E, Yan Q, Dallman JE.

Front Mol Neurosci. 2016 Jul 7;9:55. doi: 10.3389/fnmol.2016.00055. eCollection 2016. Review.

16.

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.

17.

Axonal Transport and Neurodegeneration: How Marine Drugs Can Be Used for the Development of Therapeutics.

White JA, Banerjee R, Gunawardena S.

Mar Drugs. 2016 May 19;14(5). pii: E102. doi: 10.3390/md14050102. Review.

18.

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

Martinuzzi A, Montanaro D, Vavla M, Paparella G, Bonanni P, Musumeci O, Brighina E, Hlavata H, Rossi G, Aghakhanyan G, Martino N, Baratto A, D'Angelo MG, Peruch F, Fantin M, Arnoldi A, Citterio A, Vantaggiato C, Rizzo V, Toscano A, Bresolin N, Bassi MT.

PLoS One. 2016 Apr 14;11(4):e0153283. doi: 10.1371/journal.pone.0153283. eCollection 2016.

19.

Methods to identify and analyze gene products involved in neuronal intracellular transport using Drosophila.

Neisch AL, Avery AW, Machamer JB, Li MG, Hays TS.

Methods Cell Biol. 2016;131:277-309. doi: 10.1016/bs.mcb.2015.06.015. Epub 2015 Sep 2.

20.

Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.

Tourtellotte WG.

Am J Pathol. 2016 Mar;186(3):489-99. doi: 10.1016/j.ajpath.2015.10.022. Epub 2015 Dec 24. Review.

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