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447 results

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Page 1
KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease.
Nair A, Greeny A, Rajendran R, Abdelgawad MA, Ghoneim MM, Raghavan RP, Sudevan ST, Mathew B, Kim H. Nair A, et al. Pharmaceuticals (Basel). 2023 Jan 19;16(2):147. doi: 10.3390/ph16020147. Pharmaceuticals (Basel). 2023. PMID: 37259299 Free PMC article. Review.
KIF1A-associated neurological diseases (KANDs) are a group of inherited conditions caused by changes in the microtubule (MT) motor protein KIF1A as a result of KIF1A gene mutations. Anterograde transport of membrane organelles is facilitated by the kinesin fa
KIF1A-associated neurological diseases (KANDs) are a group of inherited conditions caused by changes in the microtubule (MT) motor pr
KIF1A-Related Neurodevelopmental Disorder.
Chung W, Boyle L. Chung W, et al. 2026 Apr 2. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2026 Apr 2. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 41941559 Free Books & Documents. Review.
Autosomal dominant inheritance: Most individuals diagnosed with autosomal dominant KIF1A-NDD have the disorder as the result of a de novo pathogenic variant. Some individuals diagnosed with KIF1A-NDD have an affected parent. ...Carrier testing for at-risk relatives …
Autosomal dominant inheritance: Most individuals diagnosed with autosomal dominant KIF1A-NDD have the disorder as the result of a de …
KIF1A-associated neurological disorders: therapeutic opportunities and challenges.
Lin Q, Verden D, Christodoulou J, Gold WA, Kaur S. Lin Q, et al. Eur J Hum Genet. 2025 Nov 27. doi: 10.1038/s41431-025-01978-8. Online ahead of print. Eur J Hum Genet. 2025. PMID: 41310149 Review.
KIF1A-Associated Neurological Disorder (KAND) is a rare, progressive neurodegenerative condition caused by variants in the KIF1A gene, which encodes a kinesin-3 motor protein essential for anterograde axonal transport of synaptic vesicles, dense core vesicles, and o
KIF1A-Associated Neurological Disorder (KAND) is a rare, progressive neurodegenerative condition caused by variants in the KIF1A
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder.
Ziegler A, Carroll J, Bain JM, Sands TT, Fee RJ, Uher D, Kanner CH, Montes J, Glass S, Douville J, Mignon L, Gleeson JG, Crooke ST, Chung WK. Ziegler A, et al. Nat Med. 2024 Oct;30(10):2782-2786. doi: 10.1038/s41591-024-03197-y. Epub 2024 Aug 9. Nat Med. 2024. PMID: 39122967 Free PMC article.
KIF1A-associated neurological disorder (KAND) is a neurodegenerative and often lethal ultrarare disease with a wide phenotypic spectrum associated with largely heterozygous de novo missense variants in KIF1A. ...Here we report the case of one patient with a severe f
KIF1A-associated neurological disorder (KAND) is a neurodegenerative and often lethal ultrarare disease with a wide phenotypic spectr
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. Vecchia SD, et al. J Neurol. 2022 Jan;269(1):437-450. doi: 10.1007/s00415-021-10792-3. Epub 2021 Sep 6. J Neurol. 2022. PMID: 34487232
METHODS: In a multicenter study conducted in patients presenting spastic gait or complex neurodevelopmental disorders, we analyzed the clinical, genetic and neuroradiological features of 28 index cases harboring heterozygous variants in KIF1A. We conducted a literature sys …
METHODS: In a multicenter study conducted in patients presenting spastic gait or complex neurodevelopmental disorders, we analyzed the clini …
KIF1A promotes neuroendocrine differentiation in prostate cancer by regulating the OGT-mediated O-GlcNAcylation.
Zhou Q, Yang M, Fu J, Sun X, Wang J, Zhang H, Hu J, Han B. Zhou Q, et al. Cell Death Dis. 2024 Nov 6;15(11):796. doi: 10.1038/s41419-024-07142-2. Cell Death Dis. 2024. PMID: 39505875 Free PMC article.
We performed a pan-cancer differential mRNA abundance analysis and identified that Kinesin-like protein (KIF1A) was highly expressed in NEPC. KIF1A knockdown impaired neuroendocrine(NE) features, including NE marker gene expression, stemness, and epithelial-mesenchy …
We performed a pan-cancer differential mRNA abundance analysis and identified that Kinesin-like protein (KIF1A) was highly expressed …
Association of variants in the KIF1A gene with amyotrophic lateral sclerosis.
Liao P, Yuan Y, Liu Z, Hou X, Li W, Wen J, Zhang K, Jiao B, Shen L, Jiang H, Guo J, Tang B, Zhang Z, Hu Z, Wang J. Liao P, et al. Transl Neurodegener. 2022 Oct 26;11(1):46. doi: 10.1186/s40035-022-00320-2. Transl Neurodegener. 2022. PMID: 36284339 Free PMC article.
Expression of several disease-related KIF1A mutants in cultured mouse cortical neurons led to enhanced colocalization of RAB3A or VAMP2 with the KIF1A motor. CONCLUSIONS: Our study highlighted the importance of KIF1A motor-mediated transport in the pathogenes …
Expression of several disease-related KIF1A mutants in cultured mouse cortical neurons led to enhanced colocalization of RAB3A or VAM …
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
Boyle L, Rao L, Kaur S, Fan X, Mebane C, Hamm L, Thornton A, Ahrendsen JT, Anderson MP, Christodoulou J, Gennerich A, Shen Y, Chung WK. Boyle L, et al. HGG Adv. 2021 Apr 8;2(2):100026. doi: 10.1016/j.xhgg.2021.100026. Epub 2021 Jan 30. HGG Adv. 2021. PMID: 33880452 Free PMC article.
KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A,a gene that encodes an anterograde neuronal microtubule (MT) motor protein. ...
KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A
CREB-KIF1A-CGRP-positive feedback loop drives central sensitization in chronic migraine.
Jiang W, Yu P, Shi YM, Zhang LX, Cai MT, Yang Y, Dong M. Jiang W, et al. J Headache Pain. 2025 Sep 30;26(1):194. doi: 10.1186/s10194-025-02147-4. J Headache Pain. 2025. PMID: 41029476 Free PMC article.
Mechanistic studies included chromatin immunoprecipitation and dual-luciferase assays to verify the CREB-mediated transcriptional regulation of Kif1a, coimmunoprecipitation (Co-IP) to assess KIF1A-CGRP interactions, and synaptosomal CGRP analysis following Kif1a
Mechanistic studies included chromatin immunoprecipitation and dual-luciferase assays to verify the CREB-mediated transcriptional regulation …
Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder.
Chiba K, Kita T, Anazawa Y, Niwa S. Chiba K, et al. J Cell Sci. 2023 Mar 1;136(5):jcs260742. doi: 10.1242/jcs.260742. Epub 2023 Jan 19. J Cell Sci. 2023. PMID: 36655764 Review.
KIF1A is regulated by an autoinhibitory mechanism; many studies, as well as the crystal structure of KIF1A paralogs, support a model whereby autoinhibited KIF1A is monomeric in solution, whereas activated KIF1A is dimeric on microtubules. KIF1A-
KIF1A is regulated by an autoinhibitory mechanism; many studies, as well as the crystal structure of KIF1A paralogs, support a
447 results