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A conserved role for AMP-activated protein kinase in NGLY1 deficiency

PLoS Genetics(2020)10.1371/journal.pgen.1009258Source: DataRank Database

A conserved role for AMP-activated protein kinase in NGLY1 deficiency is a research paper published in PLoS Genetics (2020). On theSindex it has a DataRank of 0. It has been cited 40 times.

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Open Access40 citations

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Enrichment:Funding (4 grants)Impact (FWCI 5.10)OA: goldTopics (46)IDs (PubMed, OpenAlex)SDGs (2)

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Reusable (0/3)

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Authors (7)

Ashutosh Pandey ORCID,Tereza Moore,Antonio Galeone ORCID,Lita Duraine ORCID,Tina M. Cowan ORCID

Live enrichment

PubMed:33315951 OpenAlex:https://openalex.org/W3112693660

National Institutes of Health

Grant: R35GM130317

National Institutes of Health

Grant: 3U54HD083092-05S1

Baylor Intellectual and Developmental Disabilities Research Centers

National Institutes of Health

Grant: 2R35GM130317-06

Roles of Glycosylation and Deglycosylation During Animal Development

National Institutes of Health

Grant: 3P40OD018537-04S1

Bloomington Drosophila Stock Center at Indiana University

FWCI

5.10

Citation Percentile

1.0%

Citation Trend

2021

2022

2023

2024

2025

2026

goldLicense: cc-by

journalhttps://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009258&type=printable

publisherhttps://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009258&type=printable

publisherhttps://dx.plos.org/10.1371/journal.pgen.1009258

journalhttps://doi.org/10.1371/journal.pgen.1009258

repositoryhttps://pubmed.ncbi.nlm.nih.gov/33315951

Fields of Study

Pancreatic function and diabetesGenetics and Neurodevelopmental DisordersCalcium signaling and nucleotide metabolism0301 basic medicine0303 health sciences03 medical and health sciences

MeSH Terms

AMP-Activated Protein Kinase KinasesAnimalsCells, CulturedDrosophila melanogasterEnergy MetabolismFibroblastsHumansProtein KinasesSignal TransductionCongenital Disorders of GlycosylationDrosophila ProteinsPeptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidaseNF-E2-Related Factor 1Mice

Keywords

AMPKBiologyTranscription factorProtein kinase ACell biologyEndocrinologyKinaseGeneticsGeneNF-E2-Related Factor 1QH426-470FibroblastsMiceCongenital Disorders of GlycosylationDrosophila melanogasterAMP-Activated Protein Kinase KinasesAnimalsDrosophila ProteinsHumansPeptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidaseMutations in human N-glycanase 1 (NGLY1) cause the first known congenital disorder of deglycosylation (CDDG). Patients with this rare disease, which is also known as NGLY1 deficiency, exhibit global developmental delay and other phenotypes including neuropathy, movement disorder, and constipation. NGLY1 is known to regulate proteasomal and mitophagy gene expression through activation of a transcription factor called "nuclear factor erythroid 2-like 1" (NFE2L1). Loss of NGLY1 has also been shown to impair energy metabolism, but the molecular basis for this phenotype and its in vivo consequences are not well understood. Using a combination of genetic studies, imaging, and biochemical assays, here we report that loss of NGLY1 in the visceral muscle of the Drosophila larval intestine results in a severe reduction in the level of AMP-activated protein kinase α (AMPKα), leading to energy metabolism defects, impaired gut peristalsis, failure to empty the gut, and animal lethality. Ngly1–/– mouse embryonic fibroblasts and NGLY1 deficiency patient fibroblasts also show reduced AMPKα levels. Moreover, pharmacological activation of AMPK signaling significantly suppressed the energy metabolism defects in these cells. Importantly, the reduced AMPKα level and impaired energy metabolism observed in NGLY1 deficiency models are not caused by the loss of NFE2L1 activity. Taken together, these observations identify reduced AMPK signaling as a conserved mediator of energy metabolism defects in NGLY1 deficiency and suggest AMPK signaling as a therapeutic target in this disease.Energy MetabolismProtein KinasesCells, CulturedResearch ArticleSignal Transduction

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