ArticleCell reports2022
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
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Article in Cell reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
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69citing papers in PubMed
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69 citing papers in PubMed, 99 citations in OpenAlex.
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- The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity.Journal of neurochemistry · 2026Review
- Systemic Inflammation Triggers Motor Axon Degeneration Via Macrophage IL-1β-Mediated P53/SIRT1/Autophagy Pathway.Inflammation · 2026Article
- Heterotrimeric kinesin-2 autoinhibition mediated by interactions of the CC2 and proximal tail domains with the motor domains is essential for cilium formation and maintenance.bioRxiv : the preprint server for biology · 2026Article
- Consequences of the Novel ALS-AssociatedNeurology. Genetics · 2026Article
- Kinesin-1 is highly flexible and adopts an open conformation in the absence of cargo.iScience · 2026Article
- Auxin-inducible degradation of UNC-116 in C. elegans inhibits bidirectional dense core vesicle transport and worm locomotion on different timescales.Journal of cell science · 2026Article
- Enlarged Perivascular Spaces (EPVS) and the Risk of Amyotrophic Lateral Sclerosis (ALS): Evidence for Overlapping Genetic Signals in White Matter Without Causal Links.Brain sciences · 2026Article
- Rules of the road: how to turn off kinesin motors.The Biochemical journal · 2026Review
- Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.HGG advances · 2026Article
- Traditional Chinese botanical medicines and plant-derived bioactive compounds in amyotrophic lateral sclerosis: mechanistic evidence, translational challenges, and therapeutic opportunities.Frontiers in pharmacology · 2026Review
- Non-cell autonomous autophagy in amyotrophic lateral sclerosis: A new promising target?Neurobiology of disease · 2026Review
- Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.Autophagy · 2026Review
- Functional validation of the novel KIF5A p.R17Q VUS reveals defective axonal transport in iPSC-motoneurons from a SPG10 patient.Frontiers in genetics · 2026Article
- Joubert syndrome 26 protein enforces compartmentalized motility of a ciliary kinesin.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Kinesins inOpen biology · 2025Review
- Antisense oligonucleotide depletion ofmedRxiv : the preprint server for health sciences · 2025Article
- Amyotrophic Lateral Sclerosis: Focus on Cytoplasmic Trafficking and Proteostasis.Molecular neurobiology · 2025Review
- ALS Mutations Shift the Isoelectric Point of the KIF5A C Terminal Inducing Protein Aggregation and TDP-43 Mislocalization.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
9 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 7 institutions in 2 countries.
Desiree M BaronDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Adam R FentonDepartment of Physiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Pennsylvania Muscle Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
Sara Saez-AtienzarNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
Anthony GiampetruzziDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Aparna SreeramDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
ShankaracharyaDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Pamela J KeagleDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Victoria R DoocyDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Nathan J SmithDepartment of Biochemistry, University of Nebraska-Lincoln, Lincoln, NE 68588, USA.
Eric W DanielsonDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Megan AndresanoDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Mary C McCormackDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Jaqueline GarciaDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Valérie BercierKU Leuven-University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), Leuven, Belgium; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, Leuven, Belgium.
Ludo Van Den BoschKU Leuven-University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), Leuven, Belgium; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, Leuven, Belgium.
Jonathan R BrentDepartment of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Claudia FalliniDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA; George and Anne Ryan Institute for Neuroscience, University of Rhode Island, Kingston, RI 02881, USA; Department of Cell and Molecular Biology, University of Rhode Island, Kingston, RI 02881, USA; Department of Biomedical and Pharmaceutical Sciences, University of Rhode Island, Kingston, RI 02881, USA.
Bryan J TraynorNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA; Therapeutic Development Branch, National Center for Advancing Translational Sciences, NIH, Rockville, MD 20850, USA.
Erika L F HolzbaurDepartment of Physiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Pennsylvania Muscle Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
John E LandersDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address: john.landers@umassmed.edu.
University of Massachusetts Chan Medical School · USUniversity of Pennsylvania · USVIB-KU Leuven Center for Brain & Disease Research · BEJohns Hopkins University · USNational Institute on Aging · USNorthwestern University · USUniversity of Nebraska–Lincoln · US
Funding
Northwestern University Clinical and Translational Science Institute (NUCATS)UL1TR001422 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI D'AQUILA, RICHARD · 2015 to 2023
$56.8MGenome wide SNP analysis in Amyotrophic Lateral SclerosisZIAAG000933 · NIA · NATIONAL INSTITUTE ON AGING · PI TRAYNOR, BRYAN · 2009 to 2025
$9.8MMolecular Mechanisms of Axonal Transport and Organelle DynamicsR35GM126950 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Erika L Holzbaur · 2018 to 2026
$5.6MIdentification of genes causative for familial ALS gene using exome sequencingR01NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2011 to 2019
$4.6MGenome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6MIdentification and Characterization of ALS/FTD Associated Variants Using Whole Genome SequencingR56NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2020 to 2020
$586kIntramural NIH HHS Z01 AG000949NCATS NIH HHS UL1 TR001422NIGMS NIH HHS R35 GM126950NINDS NIH HHS R01 NS073873NINDS NIH HHS R56 NS073873
Abstract
Understanding the pathogenic mechanisms of disease mutations is critical to advancing treatments. ALS-associated mutations in the gene encoding the microtubule motor KIF5A result in skipping of exon 27 (KIF5A
Indexed as
Amyotrophic Lateral SclerosisAxonal TransportGain of Function MutationHumansKinesinsMutationKIF5A protein, humanKinesinsALSamyotrophic lateral sclerosisautoinhibitionaxonal transportCP: NeuroscienceKIF5Akinesinneurodegenerative diseaseneuronal survival
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