Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.
Cozzi M, Magri S, Tedesco B, Patelli G, Ferrari V, Casarotto E, Chierichetti M, Pramaggiore P, Cornaggia L, Piccolella M, Galbiati M, Rusmini P, Crippa V, Mandrioli J, Pareyson D, Pisciotta C, D'Arrigo S, Ratti A, Nanetti L, Mariotti C, Sarto E, Pensato V, Gellera C, Di Bella D, Cristofani RM, Taroni F, Poletti A., Free PMC Article

Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis.
Wang H, Guan L, Ma X, Wang Y, Wang J, Zhang P, Deng M., Free PMC Article

A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.
Carrington G, Fatima U, Caramujo I, Lewis T, Casas-Mao D, Peckham M., Free PMC Article

ALS-Associated KIF5A Mutation Causes Locomotor Deficits Associated with Cytoplasmic Inclusions, Alterations of Neuromuscular Junctions, and Motor Neuron Loss.
Soustelle L, Aimond F, López-Andrés C, Brugioti V, Raoul C, Layalle S., Free PMC Article

Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis.
Pino MG, Rich KA, Hall NJ, Jones ML, Fox A, Musier-Forsyth K, Kolb SJ.

A human proteogenomic-cellular framework identifies KIF5A as a modulator of astrocyte process integrity with relevance to ALS.
Szebényi K, Barrio-Hernandez I, Gibbons GM, Biasetti L, Troakes C, Beltrao P, Lakatos A., Free PMC Article

Road-blocker HSP disease mutation disrupts pre-organization for ATP hydrolysis in kinesin through a second sphere control.
Manna RN, Onuchic JN, Jana B., Free PMC Article

ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function.
Pant DC, Parameswaran J, Rao L, Loss I, Chilukuri G, Parlato R, Shi L, Glass JD, Bassell GJ, Koch P, Yilmaz R, Weishaupt JH, Gennerich A, Jiang J., Free PMC Article

ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
Baron DM, Fenton AR, Saez-Atienzar S, Giampetruzzi A, Sreeram A, Shankaracharya, Keagle PJ, Doocy VR, Smith NJ, Danielson EW, Andresano M, McCormack MC, Garcia J, Bercier V, Van Den Bosch L, Brent JR, Fallini C, Traynor BJ, Holzbaur ELF, Landers JE., Free PMC Article

Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2.
Du K, Meng L, Lv H, Zhang W, Wang Z, Yuan Y.

Genotype-phenotype correlations of KIF5A stalk domain variants.
de Boer EMJ, van Rheenen W, Goedee HS, Kamsteeg EJ, Brilstra EH, Veldink JH, van Den Berg LH, van Es MA.

A novel KIF5a mutation identified in two-family members with spastic paraplegia type 10.
Oliveira R, Maruta C, Gil-Gouveia R.

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.
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.

Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant.
Fukuoka M, Okazaki S, Kim K, Nukui M, Inoue T, Kuki I, Kawawaki H, Nakashima M, Matsumoto N., Free PMC Article

Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis.
Nakamura R, Tohnai G, Atsuta N, Nakatochi M, Hayashi N, Watanabe H, Yokoi D, Watanabe H, Katsuno M, Izumi Y, Taniguchi A, Kanai K, Morita M, Kano O, Kuwabara S, Oda M, Abe K, Aoki M, Aiba I, Okamoto K, Mizoguchi K, Hattori N, Nakashima K, Kaji R, Sobue G, Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS).

Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients.
Yang TC, Yarmishyn AA, Yang YP, Lu PC, Chou SJ, Wang ML, Lin TC, Hwang DK, Chou YB, Chen SJ, Yu WK, Wang AG, Hsu CC, Chiou SH.

KIF5A and the contribution of susceptibility genotypes as a predictive biomarker for multiple sclerosis.
Hares K, Kemp K, Loveless S, Rice CM, Scolding N, Tallantyre E, Robertson N, Wilkins A., Free PMC Article

Binding and transport of SFPQ-RNA granules by KIF5A/KLC1 motors promotes axon survival.
Fukuda Y, Pazyra-Murphy MF, Silagi ES, Tasdemir-Yilmaz OE, Li Y, Rose L, Yeoh ZC, Vangos NE, Geffken EA, Seo HS, Adelmant G, Bird GH, Walensky LD, Marto JA, Dhe-Paganon S, Segal RA., Free PMC Article

Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2.
He J, Liu X, Tang L, Zhao C, He J, Fan D.

KIF5A Promotes Bladder Cancer Proliferation In Vitro and In Vivo.
Tian DW, Wu ZL, Jiang LM, Gao J, Wu CL, Hu HL., Free PMC Article

Mutation analysis of KIF5A in Chinese amyotrophic lateral sclerosis patients.
Zhang K, Liu Q, Shen D, Tai H, Liu S, Wang Z, Shi J, Fu H, Wu S, Ding Q, Hu Y, Wu Y, Li X, Guan Y, Liu M, Cui L, Zhang X.

Mutation screening of the KIF5A gene in Chinese patients with amyotrophic lateral sclerosis.
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.

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
Jia X, Madireddy L, Caillier S, Santaniello A, Esposito F, Comi G, Stuve O, Zhou Y, Taylor B, Kilpatrick T, Martinelli-Boneschi F, Cree BAC, Oksenberg JR, Hauser SL, Baranzini SE., Free PMC Article

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., Free PMC Article

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, 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., Free PMC Article