| Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder. | Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Sudnawa KK, Li W, Calamia S, Kanner CH, Bain JM, Abdelhakim AH, Geltzeiler A, Mebane CM, Provenzano FA, Sands TT, Fee RJ, Montes J, Shen Y, Chung WK., | 08/7/2024 |
| KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC. | KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.
Ghafoor S, Rafiq MA, Abbas Shah ST, Ansar M, Paton T, Ajmal M, Agha Z, Qamar R, Azam M. | 06/5/2024 |
| Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients. | Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.
Lin J, Li N, Yao R, Yu T, Wang X, Wang J., Free PMC Article | 01/17/2024 |
| [KIF1A gene-associated neurological disease: the correlation between genotype and phenotype]. | [KIF1A gene-associated neurological disease: the correlation between genotype and phenotype].
Ortiz-Ortigosa A, Calvo-Medina R, Ruiz-García C, Vera-Medialdea R, Ramos-Fernández JM., Free PMC Article | 09/6/2023 |
| Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family. | Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family.
Lee B, Song HH, Kim YR, Kim JH, Cho ST, Lee JH, Kim UK, Park JS. | 05/19/2023 |
| [Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30]. | [Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30].
Xu G, Li J, Deng Z, Xia Y, Wang T, Bai Y, Qi Y, Zhou YA. | 03/29/2023 |
| Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder. | Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder.
Chiba K, Kita T, Anazawa Y, Niwa S. | 01/28/2023 |
| Investigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia. | Investigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Hsu SL, Liao YC, Lin KP, Lin PY, Yu KW, Tsai YS, Guo YC, Lee YC. | 10/29/2022 |
| De novo mutations in KIF1A-associated neuronal disorder (KAND) dominant-negatively inhibit motor activity and axonal transport of synaptic vesicle precursors. | De novo mutations in KIF1A-associated neuronal disorder (KAND) dominant-negatively inhibit motor activity and axonal transport of synaptic vesicle precursors.
Anazawa Y, Kita T, Iguchi R, Hayashi K, Niwa S., Free PMC Article | 10/22/2022 |
| KLF5 promotes KIF1A expression through transcriptional repression of microRNA-338 in the development of pediatric neuroblastoma. | KLF5 promotes KIF1A expression through transcriptional repression of microRNA-338 in the development of pediatric neuroblastoma.
Zhou Y, Tang X, Huang Z, Wen J, Xiang Q, Liu D. | 08/20/2022 |
| A kinesin-1 variant reveals motor-induced microtubule damage in cells. | A kinesin-1 variant reveals motor-induced microtubule damage in cells.
Budaitis BG, Badieyan S, Yue Y, Blasius TL, Reinemann DN, Lang MJ, Cianfrocco MA, Verhey KJ., Free PMC Article | 06/18/2022 |
| Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). | Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Kaur S, Van Bergen NJ, Verhey KJ, Nowell CJ, Budaitis B, Yue Y, Ellaway C, Brunetti-Pierri N, Cappuccio G, Bruno I, Boyle L, Nigro V, Torella A, Roscioli T, Cowley MJ, Massey S, Sonawane R, Burton MD, Schonewolf-Greulich B, Tümer Z, Chung WK, Gold WA, Christodoulou J., Free PMC Article | 04/2/2022 |
| A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle. | A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle.
Morikawa M, Jerath NU, Ogawa T, Morikawa M, Tanaka Y, Shy ME, Zuchner S, Hirokawa N., Free PMC Article | 03/12/2022 |
| Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders. | Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Nicita F, Ginevrino M, Travaglini L, D'Arrigo S, Zorzi G, Borgatti R, Terrone G, Catteruccia M, Vasco G, Brankovic V, Siliquini S, Romano S, Veredice C, Pedemonte M, Armando M, Lettori D, Stregapede F, Bosco L, Sferra A, Tessarollo V, Romaniello R, Ristori G, Bertini E, Valente EM, Zanni G. | 01/29/2022 |
| Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review. | Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Vecchia SD, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Cioffi E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM. | 01/15/2022 |
| Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. | Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Montenegro-Garreaud X, Hansen AW, Khayat MM, Chander V, Grochowski CM, Jiang Y, Li H, Mitani T, Kessler E, Jayaseelan J, Shen H, Gezdirici A, Pehlivan D, Meng Q, Rosenfeld JA, Jhangiani SN, Madan-Khetarpal S, Scott DA, Abarca-Barriga H, Trubnykova M, Gingras MC, Muzny DM, Posey JE, Liu P, Lupski JR, Gibbs RA., Free PMC Article | 01/8/2022 |
| KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. | KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
Nemani T, Steel D, Kaliakatsos M, DeVile C, Ververi A, Scott R, Getov S, Sudhakar S, Male A, Mankad K, Genomics England Research Consortium, Muntoni F, Reilly MM, Kurian MA, Carr L, Munot P. | 06/5/2021 |
| Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene. | Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.
Van Beusichem AE, Nicolai J, Verhoeven J, Speth L, Coenen M, Willemsen MA, Kamsteeg EJ, Stumpel C, Vermeulen RJ. | 02/6/2021 |
| KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. | KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ., Free PMC Article | 02/6/2021 |
| Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation. | Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation.
Xiaojing W, Yanyan M, Ruonan D, Xiaolin L, Haiyan Z, Jian M, Yi L, Wenjie S, Qiji L. | 01/23/2021 |
| All-atom molecular dynamics simulations reveal how kinesin transits from one-head-bound to two-heads-bound state. | All-atom molecular dynamics simulations reveal how kinesin transits from one-head-bound to two-heads-bound state.
Shi XX, Guo SK, Wang PY, Chen H, Xie P. | 01/9/2021 |
| Breaking of buckled microtubules is mediated by kinesins. | Breaking of buckled microtubules is mediated by kinesins.
Kabir AMR, Sada K, Kakugo A. | 09/26/2020 |
| Deletion of the Pseudorabies Virus gE/gI-US9p complex disrupts kinesin KIF1A and KIF5C recruitment during egress, and alters the properties of microtubule-dependent transport in vitro. | Deletion of the Pseudorabies Virus gE/gI-US9p complex disrupts kinesin KIF1A and KIF5C recruitment during egress, and alters the properties of microtubule-dependent transport in vitro.
Diwaker D, Murray JW, Barnes J, Wolkoff AW, Wilson DW., Free PMC Article | 08/15/2020 |
| Pathogenic variants of KIF1A are associated with Rett and Rett-like syndrome. | Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.
Wang J, Zhang Q, Chen Y, Yu S, Wu X, Bao X., Free PMC Article | 07/4/2020 |
| Kif1a recruitment complex facilitates axonal sorting of human herpes simplex virus 1. | A kinesin-3 recruitment complex facilitates axonal sorting of enveloped alpha herpesvirus capsids.
Scherer J, Hogue IB, Yaffe ZA, Tanneti NS, Winer BY, Vershinin M, Enquist LW., Free PMC Article | 05/9/2020 |