Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

20 Feb 2020

Abstract excerpt

Deregulation of mitochondrial network in terminally differentiated cells contributes to a broad spectrum of disorders. Methylmalonic acidemia (MMA) is one of the most common inherited metabolic disorders, due to deficiency of the mitochondrial methylmalonyl-coenzyme A mutase (MMUT). How MMUT deficiency triggers cell damage remains unknown, preventing the development of disease-modifying therapies. Here we combine...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autophagy in Disease and Therapy
Share to Metabolism and Genetic Disorders
Share to Mitochondrial Function and Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32080200
DOI: 10.1038/s41467-020-14729-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiencyPMID 32080200Read ↗

Integrated multi-omics reveals anaplerotic insufficiency in methylmalonyl-CoA mutase deficiencySemantic proximity Read ↗

Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduriaSemantic proximity Read ↗

Combined stem cell and predictive models reveal flavin cofactors as targets in metabolic liver dysfunctionSemantic proximity Read ↗

Cellular and computational models reveal environmental and genetic interactions in <i>MMUT</i> -type methylmalonic aciduriaSemantic proximity Read ↗

An updated inventory of genes essential for oxidative phosphorylation identifies a mitochondrial origin in familial Ménière’s diseaseSemantic proximity Read ↗

Integration of proteomics and metabolomics data in a novel cellular knock out model of methylmalonic acidemiaSemantic proximity Read ↗

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.Semantic proximity Read ↗

A Next Generation Multiscale View of Inborn Errors of Metabolism.Semantic proximity Read ↗

MIC13-linked cristae disruption causes metabolic failure and early fibrotic remodelling in mitochondrial liver diseaseSemantic proximity Read ↗

DELE1 maintains muscle proteostasis to promote growth and survival in mitochondrial myopathySemantic proximity Read ↗

Loss of mitochondrial amidoxime-reducing component 1 (mARC1) prevents disease progression by reducing fibrosis in multiple mouse models of chronic liver diseaseSemantic proximity Read ↗

Mitochondrial depolarization stabilizes the vitamin B12 chaperone MMADHC in the cytosol to increase MTR activitySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.