| 1 | ALS25, KIF5A
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| Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis.
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| Pino MG, Rich KA, Hall NJ, Jones ML, Fox A, Musier-Forsyth K, Kolb SJ.
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| Hum Mol Genet. Aug 18:ddad134. doi: 10.1093/hmg/ddad134. Online ahead of print. 2023
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| 2 | KIF5A
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| Kif5a Regulates Mitochondrial Transport in Developing Retinal Ganglion Cells In Vitro
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| Yokota S, Shah SH, Huie EL, Wen RR, Luo Z, Goldberg JL.
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| Invest Ophthalmol Vis Sci. Mar 1;64(3):4. doi: 10.1167/iovs.64.3.4. 2023
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| 3 | ALS25, KIF5A
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| Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.
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| Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Sakuishi K, Nakamagoe K, Miyake Z, Tamaoka A, Goto J, Yoshimura J, Doi K, Morishita S, Toda T, Tsuji S.
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| Neurogenetics Mar;22(1):11-17. doi: 10.1007/s10048-020-00626-1. Epub 2020 Aug 19. 2021
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| 4 | KIF5A, SPG10
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| Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A).
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| Lee H, La Y, Na HK, Kim H, Shin S, Choi YC.
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| J Clin Neurol. Apr;16(2):347-348. doi: 10.3988/jcn.2020.16.2.347. 2020
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| 5 | ALS25, KIF5A
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| Mutation screening of the KIF5A gene in Chinese patients with amyotrophic lateral sclerosis.
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| Gu X, Li C, Chen Y, Wei Q, Cao B, Ou R, Yuan X, Hou Y, Zhang L, Liu H, Wu Y, Song W, Zhao B, Chen X, Shang HF.
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| J Neurol Neurosurg Psychiatry. Feb;90(2):245-246. doi: 10.1136/jnnp-2018-318395. Epub 2018 Jun 28. 2019
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| 6 | KIF5A
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| Amyloid beta-mediated KIF5A deficiency disrupts anterograde axonal mitochondrial movement.
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| Wang Q, Tian J, Chen H, Du H, Guo L.
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| Neurobiol Dis. Jul;127:410-418. doi: 10.1016/j.nbd.2019.03.021. Epub 2019 Mar 25 2019
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| 7 | ALS25, KIF5A
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| Hot-spot KIF5A mutations cause familial ALS.
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| 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, 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; German ALS network MND-NET.
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| Brain. Mar 1;141(3):688-697. doi: 10.1093/brain/awx370. 2018
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| 8 | ALS25, KIF5A
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| . Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
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| 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
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| Neuron Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027. 2018
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| 9 | KIF5A, NEIMY
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| KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy
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| Rydzanicz M, Jagła M, Kosinska J, Tomasik T, Sobczak A, Pollak A, Herman-Sucharska I, Walczak A, Kwinta P, Płoski R.
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| Clin Genet. May;91(5):769-773. doi: 10.1111/cge.12831. Epub 2016 Sep 16. 2017
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| 10 | KIF5A, NEIMY
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| KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction
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| Duis J, Dean S, Applegate C, Harper A, Xiao R, He W, Dollar JD, Sun LR, Waberski MB, Crawford TO, Hamosh A, Stafstrom CE.
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| Ann Neurol. Oct;80(4):633-7. doi: 10.1002/ana.24744. Epub 2016 Aug 24. 2016
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| 11 | GPHN, GSK3B, KIF5A, NLGN2
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| GSK3 and KIF5 regulate activity-dependent sorting of gephyrin between axons and dendrites.
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| Rathgeber L, Gromova KV, Schaefer I, Breiden P, Lohr C, Kneussel M.
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| Eur J Cell Biol 94(3-4):173-8. doi: 10.1016/j.ejcb.2015.01.005.
2015
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| 12 | ATL, KIF5A, KIF5B, KIF5C, PLP1, REEP1, REEP5, ZFYVE27
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| Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia.
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| Hashimoto Y, Shirane M, Matsuzaki F, Saita S, Ohnishi T, Nakayama KI.
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| J Biol Chem 289(19):12946-61. doi: 10.1074/jbc.M113.528687. Epub 2014 Mar 25.
2014
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| 13 | KIF5A, SPG10
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| Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.
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| Collongues N, Depienne C, Boehm N, Echaniz-Laguna A, Samama B, Dürr A, Stevanin G, Leguern E, Brice A, Labauge P, de Seze J.
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| Eur J Neurol. 20(2):398-401. 2013
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| 14 | KIF5A, SNPH
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| Kinesin-1-syntaphilin coupling mediates activity-dependent regulation of axonal mitochondrial transport
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| Chen Y, Sheng ZH.
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| J Cell Biol. Jul 22;202(2):351-64. doi: 10.1083/jcb.201302040. Epub 2013 Jul 15. 2013
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| 15 | KIF5A
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| Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model.
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| Füger P, Sreekumar V, Schüle R, Kern JV, Stanchev DT, Schneider CD, Karle KN, Daub KJ, Siegert VK, Flötenmeyer M, Schwarz H, Schöls L, Rasse TM.
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| PLoS Genet. 8(11):e1003066. 2012
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| 16 | KIF5A
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| Axonal transport deficit in a KIF5A( -/- ) mouse model.
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| Karle KN, Möckel D, Reid E, Schöls L.
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| Neurogenetics 13(2):169-79. 2012
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| 17 | KIF5A, SPG10
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| Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.
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| Crimella C, Baschirotto C, Arnoldi A, Tonelli A, Tenderini E, Airoldi G, Martinuzzi A, Trabacca A, Losito L, Scarlato M, Benedetti S, Scarpini E, Spinicci G, Bresolin N, Bassi MT.
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| Clin Genet 82(2):157-64. doi: 10.1111/j.1399-0004.2011.01717.x. Epub 2011 Jun 21.
2012
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| 18 | KIF5A
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| Kinesin-5, a mitotic microtubule-associated motor protein, modulates neuronal migration.
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| Falnikar A, Tole S, Baas PW.
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| Mol Biol Cell 22(9):1561-74. Epub 2011 Mar 16.
2011
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| 19 | KIF5A, SPG10
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| A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.
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| Musumeci O, Bassi MT, Mazzeo A, Grandis M, Crimella C, Martinuzzi A, Toscano A.
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| Neurol Sci 32(4):665-8. Epub 2010 Nov 24.
2011
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| 20 | KIF5A, KIF5B, KLC1, KLC2, SNAP23, SNAP25
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| Kinesin-1 plays a role in transport of SNAP-25 to the plasma membrane.
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| Morton AM, Cunningham AL, Diefenbach RJ.
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| Biochem Biophys Res Commun 391(1):388-93. Epub 2009 Nov 12.PMID: 19913510 2010
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| 21 | CD226, KIF5A, SH3B2
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| The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis.
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| Alcina A, Vandenbroeck K, Otaegui D, Saiz A, Gonzalez JR, Fernandez O, Cavanillas ML, Cénit MC, Arroyo R, Alloza I, García-Barcina M, Antigüedad A, Leyva L, Izquierdo G, Lucas M, Fedetz M, Pinto-Medel MJ, Olascoaga J, Blanco Y, Comabella M, Montalban X, Urcelay E, Matesanz F.
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| Genes Immun 11(5):439-45. Epub 2010 May 27.
2010
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| 22 | KIF5A, SPG10
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| Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
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| Goizet C, Boukhris A, Mundwiller E, Tallaksen C, Forlani S, Toutain A, Carriere N, Paquis V, Depienne C, Durr A, Stevanin G, Brice A.
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| Hum Mutat 30(2):E376-85.
2009
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| 23 | KIF5A, SPG10
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| Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
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| Ebbing B, Mann K, Starosta A, Jaud J, Schšls L, SchŸle R, Woehlke G.
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| Hum Mol Genet 17(9):1245-52. Epub 2008 Jan 18. 2008
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| 24 | KIF5A, SPG10
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| SPG10 is a rare cause of spastic paraplegia in European families.
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| Schüle R, Kremer BP, Kassubek J, Auer-Grumbach M, Kostic V, Klopstock T, Klimpe S, Otto S, Boesch S, van de Warrenburg BP, Schöls L.
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| J Neurol Neurosurg Psychiatry 79(5):584-7. Epub 2008 Feb 1.PMID: 18245137 2008
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| 25 | KIF5A, SPG10
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| A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.
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| Tessa A, Silvestri G, de Leva MF, Modoni A, Denora PS, Masciullo M, Dotti MT, Casali C, Melone MA, Federico A, Filla A, Santorelli FM.
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| J Neurol 255(7):1090-2. Epub 2008 Jun 2. No abstract available.
2008
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| 26 | KIF5A, SPG10
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| A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.
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| Lo Giudice M, Neri M, Falco M, Sturnio M, Calzolari E, Di Benedetto D, Fichera M.
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| Arch Neurol 63(2):284-7. 2006
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| 27 | KIF5A
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| Kinesin transports RNA: isolation and characterization of an RNA-transporting granule.
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| Kanai Y, Dohmae N, Hirokawa N.
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| Neuron. 43(4):513-25. 2004
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| 28 | DTNB, KIF5A
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| Beta-dystrobrevin interacts directly with kinesin heavy chain in brain.
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| Macioce P, Gambara G, Bernassola M, Gaddini L, Torreri P, Macchia G, Ramoni C, Ceccarini M, Petrucci TC.
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| J Cell Sci 116(Pt 23):4847-56. 2003
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| 29 | KIF5A, SPG10
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| A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10).
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| Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA.
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| Am J Hum Genet 71(5):1189-94. 2002
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| 30 | B4GALNT1, KIF5A
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| Assignment of GALGT encoding beta-1, 4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosome band 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization.
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| Hamlin PJ, et al.
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| Cytogenet Cell Genet 82 : 267-268. 1998
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| 31 | KIF5A
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| Costal2, a novel kinesin-related protein in the Hedgehog signaling pathway.
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| Sisson JC, Ho KS, Suyama K, Scott MP.
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| Cell 90(2):235-45 1997
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| 32 | KIF5A, KIF5B
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| Cloning and localization of a conventional kinesin motor expressed exclusively in neurons.
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| Niclas J, Navone F, Hom-Booher N, Vale RD.
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| Neuron 12(5):1059-72. 1994
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| 33 | KIF2A, KIF3C, KIF5A, KIF5B
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| A three-domain structure of kinesin heavy chain revealed by DNA sequence and microtubule binding analyses.
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| Yang JT, Laymon RA, Goldstein LS.
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| Cell 56(5):879-89 1989
|