ArticleProceedings of the National Academy of Sciences of the United States of America2020
ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function.
Erratum issued Registry-linked trialOpen access · greenAbstract read
In one paragraph
Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT00821132 (Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.), which is not on this map. Cited by 64 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
64citing papers in PubMed, 2 pooled it
7.9field-weighted citation impact, top 2% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.
Who cites it
64 citing papers in PubMed, 2 syntheses or guidelines pooled it, 86 citations in OpenAlex.
- Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.BMC medicine · 2022Pooled it
- Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)Autophagy · 2021Guideline
- TBK1 overexpression reduces neuronal loss in the P497S UBQLN2 mouse model of ALS/FTD.Neurobiology of disease · 2026Article
- Lysosomal dysfunction in neurodegenerative disease.Nature reviews. Neurology · 2026Review
- ALS-associated exitron splicing produces UBQLN2 isoforms with distinct properties.bioRxiv : the preprint server for biology · 2026Article
- Discovery of a pyrazolopyridine alkaloid that mitigates neuronal ER stress and age-related decline.Communications biology · 2026Article
- STI1 domains coordinate partitioning of UBQLN2 into stress-induced condensates.bioRxiv : the preprint server for biology · 2026Article
- The Genetics of TDP-43 Type C Neurodegeneration: A Whole-Genome Sequencing Study and Literature Review.Neurology. Genetics · 2026Article
- Novel extracellular vesicle release pathway facilitated by toxic superoxide dismutase 1 oligomers.Neurobiology of disease · 2026Article
- Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.Autophagy · 2026Review
- Non-cell autonomous autophagy in amyotrophic lateral sclerosis: A new promising target?Neurobiology of disease · 2026Review
- UBQLN2 is necessary for UBE3A-mediated proteasomal degradation of the domesticated retroelement PEG10.Journal of cell science · 2025Article
- UBQLN2 in neurodegenerative disease: mechanistic insights and emerging therapeutic potential.Biochemical Society transactions · 2025Review
- Molecular Visualization of Neuronal TDP43 PathologybioRxiv : the preprint server for biology · 2025Article
- Amyotrophic Lateral Sclerosis: Focus on Cytoplasmic Trafficking and Proteostasis.Molecular neurobiology · 2025Review
- Roles of PEG10 in cancer and neurodegenerative disorder (Review).Oncology reports · 2025Review
- VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?Cellular & molecular biology letters · 2025Review
- The role of autophagy in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).Autophagy reports · 2025Review
- Amyotrophic Lateral Sclerosis (ALS): An Overview of Genetic and Metabolic Signaling Mechanisms.CNS & neurological disorders drug targets · 2025Review
- Mechanisms of autophagy-lysosome dysfunction in neurodegenerative diseases.Nature reviews. Molecular cell biology · 2024Review
4 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
17 authors at 5 institutions in 3 countries.
Josephine J WuCenter for Biomedical Engineering and Technology, Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD 21201.
Ashley CaiCenter for Biomedical Engineering and Technology, Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD 21201.
Jessie E GreensladeCenter for Biomedical Engineering and Technology, Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD 21201.
Nicole R HigginsCenter for Biomedical Engineering and Technology, Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD 21201.
Cong FanCenter for Biomedical Engineering and Technology, Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD 21201.
Nhat T T LeCenter for Biomedical Engineering and Technology, Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD 21201.ORCID 0000-0003-0528-8114
Micaela TatmanCenter for Biomedical Engineering and Technology, Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD 21201.
Alexandra M WhiteleyDepartment of Cell Biology, Harvard Medical School, Boston, MA 02115.
Miguel A PradoDepartment of Cell Biology, Harvard Medical School, Boston, MA 02115.ORCID 0000-0002-4914-1619
Birger V DieriksDepartment of Anatomy and Medical Imaging, University of Auckland, 1010 Auckland, New Zealand.ORCID 0000-0002-9392-3327
Maurice A CurtisDepartment of Anatomy and Medical Imaging, University of Auckland, 1010 Auckland, New Zealand.
Christopher E ShawUnited Kingdom Dementia Research Institute, King's College London, WC2R 2LS London, United Kingdom.
Teepu SiddiqueKen and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611.
Richard L M FaullDepartment of Anatomy and Medical Imaging, University of Auckland, 1010 Auckland, New Zealand.ORCID 0000-0003-3385-9498
Emma L ScotterCentre for Brain Research, University of Auckland, 1010 Auckland, New Zealand.ORCID 0000-0003-4064-3599
Daniel FinleyDepartment of Cell Biology, Harvard Medical School, Boston, MA 02115.
Mervyn J MonteiroCenter for Biomedical Engineering and Technology, Department of Anatomy and Neurobiology, University of Maryland School of Medicine, Baltimore, MD 21201; monteiro@som.umaryland.edu.
University of Maryland, Baltimore · USUniversity of Auckland · NZHarvard University · USKing's College London · GBNorthwestern University · US
Funding
Mechanistic studies and therapeutics for ALS/FTD linked to UBQLN2 mutationsR01NS098243 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI Mervyn J Monteiro · 2017 to 2026
$4.0MDeciphering the role of ER stress in ALS pathogenesis caused by UBQLN2 mutationsR01NS100008 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI MONTEIRO, MERVYN J · 2017 to 2021
$2.7MDisease Mechanisms in Human UbiquilinopathyR01NS078504 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI SIDDIQUE, TEEPU · 2012 to 2016
$2.5MGenes and Genetic Models in Motor Neuron DisordersR01NS046535 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI SIDDIQUE, TEEPU · 2003 to 2007
$1.7MNINDS NIH HHS R01 NS046535NINDS NIH HHS R01 NS078504NINDS NIH HHS R01 NS098243NINDS NIH HHS R01 NS100008
Abstract
Mutations in
Indexed as
Adaptor Proteins, Signal TransducingAmyotrophic Lateral SclerosisAnimalsAutophagosomesAutophagyAutophagy-Related ProteinsBiomarkersCell LineDementiaGenetic Predisposition to DiseaseHumansHydrogen-Ion ConcentrationLysosomal-Associated Membrane Protein 1Lysosomal Membrane ProteinsMiceMice, TransgenicAdaptor Proteins, Signal TransducingATP6V1G1 protein, humanAutophagy-Related ProteinsBiomarkersLamp1 protein, mouseLysosomal-Associated Membrane Protein 1Lysosomal Membrane ProteinsMap1lc3b protein, mouseMicrotubule-Associated ProteinsSequestosome-1 ProteinSqstm1 protein, mouseUBQLN2 protein, humanVacuolar Proton-Translocating ATPasesamyotrophic lateral sclerosisautophagyubiquilinUBQLN2vacuolar ATPase pump
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
NCT00821132ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.