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257 results

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Page 1
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegi …
Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations …
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
Baron DM, Fenton AR, Saez-Atienzar S, Giampetruzzi A, Sreeram A, Shankaracharya, Keagle PJ, Doocy VR, Smith NJ, Danielson EW, Andresano M, McCormack MC, Garcia J, Bercier V, Van Den Bosch L, Brent JR, Fallini C, Traynor BJ, Holzbaur ELF, Landers JE. Baron DM, et al. Cell Rep. 2022 Apr 5;39(1):110598. doi: 10.1016/j.celrep.2022.110598. Cell Rep. 2022. PMID: 35385738 Free PMC article.
ALS-associated mutations in the gene encoding the microtubule motor KIF5A result in skipping of exon 27 (KIF5A(deltaExon27)) and the encoding of a protein with a novel 39 amino acid residue C-terminal sequence. ...Single-molecule analysis revealed that the altered C …
ALS-associated mutations in the gene encoding the microtubule motor KIF5A result in skipping of exon 27 (KIF5A(deltaExon27)) a …
ALS-linked KIF5A deltaExon27 mutant causes neuronal toxicity through gain-of-function.
Pant DC, Parameswaran J, Rao L, Loss I, Chilukuri G, Parlato R, Shi L, Glass JD, Bassell GJ, Koch P, Yilmaz R, Weishaupt JH, Gennerich A, Jiang J. Pant DC, et al. EMBO Rep. 2022 Aug 3;23(8):e54234. doi: 10.15252/embr.202154234. Epub 2022 Jun 23. EMBO Rep. 2022. PMID: 35735139 Free PMC article.
Mutations in the human kinesin family member 5A (KIF5A) gene were recently identified as a genetic cause of amyotrophic lateral sclerosis (ALS). ...Our results suggest gain-of-function as an underlying disease mechanism in KIF5A-associated ALS....
Mutations in the human kinesin family member 5A (KIF5A) gene were recently identified as a genetic cause of amyotrophic lateral scler …
Kif5a Regulates Mitochondrial Transport in Developing Retinal Ganglion Cells In Vitro.
Yokota S, Shah SH, Huie EL, Wen RR, Luo Z, Goldberg JL. Yokota S, et al. Invest Ophthalmol Vis Sci. 2023 Mar 1;64(3):4. doi: 10.1167/iovs.64.3.4. Invest Ophthalmol Vis Sci. 2023. PMID: 36862119 Free PMC article.
Kif5a knockdown decreased anterograde mitochondrial transport, while Kif5a expression increased general mitochondrial motility and anterograde mitochondrial transport. ...Future work exploring the role of Kif5a in vivo in RGCs is indicated....
Kif5a knockdown decreased anterograde mitochondrial transport, while Kif5a expression increased general mitochondrial motility …
ALS-Associated KIF5A Mutation Causes Locomotor Deficits Associated with Cytoplasmic Inclusions, Alterations of Neuromuscular Junctions, and Motor Neuron Loss.
Soustelle L, Aimond F, López-Andrés C, Brugioti V, Raoul C, Layalle S. Soustelle L, et al. J Neurosci. 2023 Nov 22;43(47):8058-8072. doi: 10.1523/JNEUROSCI.0562-23.2023. J Neurosci. 2023. PMID: 37748861 Free PMC article.
In ALS patients, mutations in the KIF5A gene induce exon 27 skipping, resulting in a mutated protein with a new C-terminal region (KIF5A delta27). To understand how KIF5A delta27 underpins the disease, we developed an ALS-associated KIF5A Drosophila mo …
In ALS patients, mutations in the KIF5A gene induce exon 27 skipping, resulting in a mutated protein with a new C-terminal region ( …
An ALS-associated KIF5A mutant forms oligomers and aggregates and induces neuronal toxicity.
Nakano J, Chiba K, Niwa S. Nakano J, et al. Genes Cells. 2022 Jun;27(6):421-435. doi: 10.1111/gtc.12936. Epub 2022 May 20. Genes Cells. 2022. PMID: 35430760 Free PMC article.
Mutations in Kif5a cause familial amyotrophic lateral sclerosis (ALS). These ALS mutations are in the intron of Kif5a and induce mis-splicing of KIF5A mRNA, leading to splicing out of exon 27, which in human KIF5A encodes the cargo-binding tail domain …
Mutations in Kif5a cause familial amyotrophic lateral sclerosis (ALS). These ALS mutations are in the intron of Kif5a and indu …
KIF5A-dependent axonal transport deficiency disrupts autophagic flux in trimethyltin chloride-induced neurotoxicity.
Liu M, Pi H, Xi Y, Wang L, Tian L, Chen M, Xie J, Deng P, Zhang T, Zhou C, Liang Y, Zhang L, He M, Lu Y, Chen C, Yu Z, Zhou Z. Liu M, et al. Autophagy. 2021 Apr;17(4):903-924. doi: 10.1080/15548627.2020.1739444. Epub 2020 Mar 30. Autophagy. 2021. PMID: 32160081 Free PMC article.
TMT decreased KIF5A protein expression, disrupted the interaction between KIF5A and lysosome, and impaired lysosomal axonal transport. ...Importantly, in TMT-administered mice with seizure symptoms and histomorphological injury in the hippocampus, TMT inhibited K …
TMT decreased KIF5A protein expression, disrupted the interaction between KIF5A and lysosome, and impaired lysosomal axonal tr …
Quantitative transportomics identifies Kif5a as a major regulator of neurodegeneration.
Shah SH, Schiapparelli LM, Ma Y, Yokota S, Atkins M, Xia X, Cameron EG, Huang T, Saturday S, Sun CB, Knasel C, Blackshaw S, Yates JR, Cline HT, Goldberg JL. Shah SH, et al. Elife. 2022 Mar 8;11:e68148. doi: 10.7554/eLife.68148. Elife. 2022. PMID: 35259089 Free PMC article.
We analyzed early changes in the protein 'transportome' from RGC somas to their axons after optic nerve injury and identified transport failure of an anterograde motor protein Kif5a early in RGC degeneration. We demonstrated that manipulating Kif5a expression affect …
We analyzed early changes in the protein 'transportome' from RGC somas to their axons after optic nerve injury and identified transport fail …
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.
Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis.
Pino MG, Rich KA, Hall NJ, Jones ML, Fox A, Musier-Forsyth K, Kolb SJ. Pino MG, et al. Hum Mol Genet. 2023 Nov 3;32(22):3166-3180. doi: 10.1093/hmg/ddad134. Hum Mol Genet. 2023. PMID: 37593923
While the total KIF5A mRNA levels were comparable across the cell lines, the total KIF5A protein levels were decreased for v-KIF5A lines, suggesting an impairment of protein synthesis or stability. Thus, despite the heterogeneous effect on ribonucleic acid sp …
While the total KIF5A mRNA levels were comparable across the cell lines, the total KIF5A protein levels were decreased for v- …
257 results