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405 results

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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 …
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 …
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 …
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
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 …
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 …
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 …
KIF1A is kinetically tuned to be a superengaging motor under hindering loads.
Pyrpassopoulos S, Gicking AM, Zaniewski TM, Hancock WO, Ostap EM. Pyrpassopoulos S, et al. Proc Natl Acad Sci U S A. 2023 Jan 10;120(2):e2216903120. doi: 10.1073/pnas.2216903120. Epub 2023 Jan 4. Proc Natl Acad Sci U S A. 2023. PMID: 36598948 Free PMC article.
KIF1A is a highly processive vesicle transport motor in the kinesin-3 family. Mutations in KIF1A lead to neurodegenerative diseases including hereditary spastic paraplegia. ...Thus, vertical forces accelerate termination of force ramps of KIF1A. Average KI …
KIF1A is a highly processive vesicle transport motor in the kinesin-3 family. Mutations in KIF1A lead to neurodegenerative dis …
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. Montenegro-Garreaud X, et al. Hum Mutat. 2020 Dec;41(12):2094-2104. doi: 10.1002/humu.24118. Epub 2020 Oct 8. Hum Mutat. 2020. PMID: 32935419 Free PMC article. Review.
KIF1A is a molecular motor for membrane-bound cargo important to the development and survival of sensory neurons. ...We identified eight additional cases with heterozygous, pathogenic KIF1A variants ascertained from a local data lake. Our data provide evidence for t …
KIF1A is a molecular motor for membrane-bound cargo important to the development and survival of sensory neurons. ...We identified ei …
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. Hsu SL, et al. Parkinsonism Relat Disord. 2022 Oct;103:144-149. doi: 10.1016/j.parkreldis.2022.09.001. Epub 2022 Sep 16. Parkinsonism Relat Disord. 2022. PMID: 36155026
METHODS: Mutational analysis of KIF1A was performed in 242 unrelated Taiwanese patients of Han Chinese ethnicity with clinically suspected HSP using targeted resequencing panel covering the entire coding regions of KIF1A. ...Among them, KIF1A p.E19K was a nov …
METHODS: Mutational analysis of KIF1A was performed in 242 unrelated Taiwanese patients of Han Chinese ethnicity with clinically susp …
405 results

Searches related to "kif1a"