ArticleeLife2020
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Article in eLife, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
–field-weighted citation impact
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed.
- Natural SEL1L variants rescue a model of NGLY1 deficiency and modify ERAD function and proteasome sensitivity.PLoS genetics · 2025Article
- Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila.American journal of human genetics · 2025Article
- Systemic gene therapy corrects the neurological phenotype in a mouse model of NGLY1 deficiency.JCI insight · 2024Article
- A drug repurposing screen reveals dopamine signaling as a critical pathway underlying potential therapeutics for the rare disease DPAGT1-CDG.PLoS genetics · 2024Article
- Pleiotropy, epistasis and the genetic architecture of quantitative traits.Nature reviews. Genetics · 2024Review
- Mutations in nucleotide metabolism genes bypass proteasome defects in png-1/NGLY1-deficient Caenorhabditis elegans.PLoS biology · 2024Article
- A Drosophila screen identifies a role for histone methylation in ER stress preconditioning.G3 (Bethesda, Md.) · 2024Article
- NGLY1 mutations cause protein aggregation in human neurons.Cell reports · 2023Article
- Generation and characterization of NGLY1 patient-derived midbrain organoids.Frontiers in cell and developmental biology · 2023Article
- Chemical Therapies for Congenital Disorders of Glycosylation.ACS chemical biology · 2022Review
- An induced pluripotent stem cell-derived NMJ platform for study of the NGLY1-Congenital Disorder of Deglycosylation.Advanced therapeutics · 2022Article
- An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency.PLoS genetics · 2022Article
- A natural genetic variation screen identifies insulin signaling, neuronal communication, and innate immunity as modifiers of hyperglycemia in the absence of Sirt1.G3 (Bethesda, Md.) · 2022Article
- An orthologous gene coevolution network provides insight into eukaryotic cellular and genomic structure and function.Science advances · 2022Article
- Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation.Nutrients · 2022Review
- NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.Cells · 2022Review
- Ferroptosis regulation by the NGLY1/NFE2L1 pathway.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Tracing the NGLY1 footprints: insights from Drosophila.Journal of biochemistry · 2022Review
- Article
- Epistasis for head morphology in Drosophila melanogaster.G3 (Bethesda, Md.) · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Dana M Talsness *Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, United States.ORCID 0000-0001-7823-1616
Katie G Owings *Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, United States.
Emily CoelhoDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, United States.
Gaelle MercenneDepartment of Internal Medicine, Division of Nephrology and Hypertension, and Molecular Medicine Program, University of Utah, Salt Lake City, United States.
John M PleinisDepartment of Internal Medicine, Division of Nephrology and Hypertension, and Molecular Medicine Program, University of Utah, Salt Lake City, United States.
Raghavendran ParthaDepartment of Computational and Systems Biology, University of Pittsburgh, Pittsburgh, United States.ORCID 0000-0002-7900-4375
Kevin A HopeDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, United States.
Aamir R ZuberiGenetic Resource Science, The Jackson Laboratory, Bar Harbor, United States.
Nathan L ClarkDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, United States.
Cathleen M LutzGenetic Resource Science, The Jackson Laboratory, Bar Harbor, United States.
Aylin R RodanDepartment of Internal Medicine, Division of Nephrology and Hypertension, and Molecular Medicine Program, University of Utah, Salt Lake City, United States.ORCID 0000-0001-9202-2378
Clement Y ChowDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, United States.ORCID 0000-0002-3104-7923
Funding
TRAINING PROGRAM IN GENETICST32GM007464 · NIGMS · UNIVERSITY OF UTAH · PI GRUNWALD, DAVID J., STANFIELD, GILLIAN · 1985 to 2020
$6.1MRegulation of WNK signaling by potassium and Mo25: structure, function and physiologyR01DK110358 · NIDDK · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI RODAN, AYLIN RACHEL · 2016 to 2025
$4.1MTitle: Functional Annotation of Genomes via Phenotypic Convergence within Large Multi-species AlignmentsR01HG009299 · NHGRI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Maria D Chikina, Nathaniel L Clark · 2017 to 2026
$4.1MInvestigating the impact of genetic variation on the ER stress response, protein folding, and diseaseR35GM124780 · NIGMS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Clement Chow · 2017 to 2026
$4.0MTraining Program in Genomic MedicineT32HG008962 · NHGRI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Lynn Jorde, Aaron R Quinlan · 2016 to 2026
$3.0MNHGRI NIH HHS R01 HG009299NHGRI NIH HHS T32 HG008962NIDDK NIH HHS R01 DK110358NIGMS NIH HHS R35 GM124780NIGMS NIH HHS T32 GM007464
Abstract
N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the
Indexed as
AnimalsCongenital Disorders of GlycosylationDisease Models, AnimalDrosophila melanogasterMiceMice, KnockoutPeptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidasePhenotypeSolute Carrier Family 12, Member 2Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidaseSolute Carrier Family 12, Member 2cell biologyD. melanogasterERADgeneticsgenomicsglycosylationgwasion transportermousenatural variationrare disease
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Read underepoch 390
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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.