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1993 2
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1996 2
1997 2
1998 1
1999 6
2000 6
2001 5
2002 6
2003 7
2004 7
2005 8
2006 6
2007 7
2008 7
2009 9
2010 17
2011 17
2012 15
2013 18
2014 13
2015 16
2016 22
2017 17
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2023 40
2024 19

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375 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
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
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 …
Specific KIF1A-adaptor interactions control selective cargo recognition.
Hummel JJA, Hoogenraad CC. Hummel JJA, et al. J Cell Biol. 2021 Oct 4;220(10):e202105011. doi: 10.1083/jcb.202105011. Epub 2021 Jul 21. J Cell Biol. 2021. PMID: 34287616 Free PMC article.
Furthermore, we identify that phosphorylation of KIF1A is critical for binding to vesicles. Cargo specificity is achieved by specific KIF1A adaptors; MADD/Rab3GEP links KIF1A to SVs, and Arf-like GTPase Arl8A mediates interactions with DCVs and lysosomes. We …
Furthermore, we identify that phosphorylation of KIF1A is critical for binding to vesicles. Cargo specificity is achieved by specific …
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. ...Thus, vertical forces accelerate termination of force ramps of KIF1A. Average KIF1A termination forces were slightly lower than the kinesin-1 KIF5B, and the median attachment dur
KIF1A is a highly processive vesicle transport motor in the kinesin-3 family. ...Thus, vertical forces accelerate termination of forc
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
The aim of this study was to investigate the clinical and genetic features of KIF1A mutations in a Taiwanese HSP cohort. METHODS: Mutational analysis of KIF1A was performed in 242 unrelated Taiwanese patients of Han Chinese ethnicity with clinically suspected HSP us …
The aim of this study was to investigate the clinical and genetic features of KIF1A mutations in a Taiwanese HSP cohort. METHODS: Mut …
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
Hereditary Spastic Paraplegia Overview.
Hedera P. Hedera P. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301682 Free Books & Documents. Review.
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B. Paprocka J, et al. Genes (Basel). 2023 Apr 25;14(5):972. doi: 10.3390/genes14050972. Genes (Basel). 2023. PMID: 37239332 Free PMC article.
BACKGROUND: KIF1A (kinesin family member 1A)-related disorders encompass a variety of diseases. ...MATERIALS AND METHODS: The first Polish patients with confirmed heterozygous pathogenic and potentially pathogenic KIF1A variants were analyzed. All the patients were …
BACKGROUND: KIF1A (kinesin family member 1A)-related disorders encompass a variety of diseases. ...MATERIALS AND METHODS: The first P …
A de novo low-frequency mosaic variant of KIF1A causes hereditary spastic paraplegia: A literature review.
Liu M, Li B, Wang X, Li D, Xie Z, Li Y, Gao Y, Chen B, Zhang H, Wang Y, Gao C. Liu M, et al. Ann Hum Genet. 2023 Jul;87(4):158-165. doi: 10.1111/ahg.12503. Epub 2023 Mar 10. Ann Hum Genet. 2023. PMID: 36896784 Review.
Deep high-throughput sequencing was performed on subjects with suspected mosaic variants. The previously reported pathogenic variant loci of the KIF1A gene with complete data were collected, and the clinical manifestations and characteristics of the pathogenic KIF1A
Deep high-throughput sequencing was performed on subjects with suspected mosaic variants. The previously reported pathogenic variant loci of …
375 results