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Year Number of Results
1993 2
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2001 5
2002 6
2003 7
2004 7
2005 8
2006 6
2007 7
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2009 9
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335 results
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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. Nicita F, et al. J Med Genet. 2021 Jul;58(7):475-483. doi: 10.1136/jmedgenet-2020-107007. Epub 2020 Jul 31. J Med Genet. 2021. PMID: 32737135
METHODS: In this retrospective multicentre study, we describe the clinical, neuroradiological and genetic features of 19 Caucasian patients (aged 3-65 years) harbouring heterozygous KIF1A variants, and extensively review the available literature to improve current classifi …
METHODS: In this retrospective multicentre study, we describe the clinical, neuroradiological and genetic features of 19 Caucasian patients …
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. Pennings M, et al. Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488895 Free PMC article.
More recently, variants in KIF1A have also been described in a few cases with autosomal dominant spastic paraplegia. Here, we describe 20 KIF1A variants in 24 patients from a clinical exome sequencing cohort of 347 individuals with a mostly 'pure' spastic paraplegia …
More recently, variants in KIF1A have also been described in a few cases with autosomal dominant spastic paraplegia. Here, we describ …
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 …
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 …
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 …
Hereditary Spastic Paraplegia Overview.
Hedera P. Hedera P. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301682 Free Books & Documents. Review.
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 …
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 …
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 …
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. Anazawa Y, et al. Proc Natl Acad Sci U S A. 2022 Aug 9;119(32):e2113795119. doi: 10.1073/pnas.2113795119. Epub 2022 Aug 2. Proc Natl Acad Sci U S A. 2022. PMID: 35917346 Free PMC article.
Mutations in human Kif1a lead to a group of neurodegenerative diseases called KIF1A-associated neuronal disorder (KAND). KAND mutations are mostly de novo and autosomal dominant; however, it is unknown if the function of wild-type KIF1A motors is inhibited by …
Mutations in human Kif1a lead to a group of neurodegenerative diseases called KIF1A-associated neuronal disorder (KAND). KAND …
335 results

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