Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses
Authors
Keywords
-
Journal
HUMAN MOLECULAR GENETICS
Volume 30, Issue 8, Pages 687-705
Publisher
Oxford University Press (OUP)
Online
2021-03-16
DOI
10.1093/hmg/ddab078
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Serine Catabolism Feeds NADH when Respiration Is Impaired
- (2020) Lifeng Yang et al. Cell Metabolism
- Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations
- (2020) Yi-Ting Liu et al. HUMAN MOLECULAR GENETICS
- Distinct mitochondrial defects trigger the integrated stress response depending on the metabolic state of the cell
- (2020) Eran Mick et al. eLife
- Folding the Mitochondrial UPR into the Integrated Stress Response
- (2020) Nadine S. Anderson et al. TRENDS IN CELL BIOLOGY
- Comparison of the clinical and genetic features of amyotrophic lateral sclerosis across Cuban, Uruguayan and Irish clinic-based populations
- (2019) Marie Ryan et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response
- (2019) Corey J. Anderson et al. ACTA NEUROPATHOLOGICA
- Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse
- (2019) Emmanuelle C. Genin et al. ACTA NEUROPATHOLOGICA
- GenPipes: an open-source framework for distributed and scalable genomic analyses
- (2019) Mathieu Bourgey et al. GigaScience
- Emerging roles for the ER stress sensor IRE1α in metabolic regulation and disease
- (2019) Shijia Huang et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Phosphorylation Dynamics of JNK Signaling: Effects of Dual-Specificity Phosphatases (DUSPs) on the JNK Pathway
- (2019) Jain Ha et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- UPRmt regulation and output: a stress response mediated by mitochondrial-nuclear communication
- (2018) Andrew Melber et al. CELL RESEARCH
- FGF-21 as a Potential Biomarker for Mitochondrial Diseases
- (2018) Leila Motlagh Scholle et al. CURRENT MEDICINAL CHEMISTRY
- A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS
- (2018) Carina Lehmer et al. EMBO Molecular Medicine
- The unfolded protein response in neurodegenerative disorders - therapeutic modulation of the PERK pathway
- (2018) Daniel Hughes et al. FEBS Journal
- Endoplasmic Reticulum Stress signalling - from basic mechanisms to clinical applications
- (2018) Aitor Almanza et al. FEBS Journal
- CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency
- (2018) Sarah J Brockmann et al. HUMAN MOLECULAR GENETICS
- MetaboAnalyst 4.0: towards more transparent and integrative metabolomics analysis
- (2018) Jasmine Chong et al. NUCLEIC ACIDS RESEARCH
- Inhibition of the ER stress IRE1α inflammatory pathway protects against cell death in mitochondrial complex I mutant cells
- (2018) Meghan S. Soustek et al. Cell Death & Disease
- Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases
- (2018) Emmanuelle C. Genin et al. NEUROBIOLOGY OF DISEASE
- Neuronal Mitochondrial Dysfunction Activates the Integrated Stress Response to Induce Fibroblast Growth Factor 21
- (2018) Lisa Michelle Restelli et al. Cell Reports
- Mitochondrial One-Carbon Pathway Supports Cytosolic Folate Integrity in Cancer Cells
- (2018) Yuxiang Zheng et al. CELL
- PGC-1α as a Pivotal Factor in Lipid and Metabolic Regulation
- (2018) Ching-Feng Cheng et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Loss of CHCHD10–CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS
- (2017) Isabella R Straub et al. HUMAN MOLECULAR GENETICS
- In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions
- (2017) S R Burstein et al. HUMAN MOLECULAR GENETICS
- Multi-omics analysis identifies ATF4 as a key regulator of the mitochondrial stress response in mammals
- (2017) Pedro M. Quirós et al. JOURNAL OF CELL BIOLOGY
- AMPK: guardian of metabolism and mitochondrial homeostasis
- (2017) Sébastien Herzig et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- CHCHD10 mutations in patients with amyotrophic lateral sclerosis in Mainland China
- (2017) Shen Shen et al. NEUROBIOLOGY OF AGING
- Fine-Tuning ER Stress Signal Transducers to Treat Amyotrophic Lateral Sclerosis
- (2017) Danilo B. Medinas et al. Frontiers in Molecular Neuroscience
- The integrated stress response
- (2016) Karolina Pakos‐Zebrucka et al. EMBO REPORTS
- Energy metabolism and inflammation in brain aging and Alzheimer’s disease
- (2016) Fei Yin et al. FREE RADICAL BIOLOGY AND MEDICINE
- Regulation of mTORC1 by growth factors, energy status, amino acids and mechanical stimuli at a glance
- (2016) Peter Bond Journal of the International Society of Sports Nutrition
- Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis
- (2016) QingQing Zhou et al. MOLECULAR NEUROBIOLOGY
- FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders
- (2016) Jenni M. Lehtonen et al. NEUROLOGY
- Enrichr: a comprehensive gene set enrichment analysis web server 2016 update
- (2016) Maxim V. Kuleshov et al. NUCLEIC ACIDS RESEARCH
- Complementation of mitochondrial electron transport chain by manipulation of the NAD+/NADH ratio
- (2016) D. V. Titov et al. SCIENCE
- Mitochondrial dysfunction remodels one-carbon metabolism in human cells
- (2016) Xiaoyan Robert Bao et al. eLife
- Analysis of theCHCHD10gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain
- (2015) Oriol Dols-Icardo et al. BRAIN
- A distinct clinical phenotype in a German kindred with motor neuron disease carrying aCHCHD10mutation
- (2015) Delia Kurzwelly et al. BRAIN
- CHCHD10mutations in Italian patients with sporadic amyotrophic lateral sclerosis: Figure 1
- (2015) Dario Ronchi et al. BRAIN
- Mutation analysis ofCHCHD10in different neurodegenerative diseases
- (2015) Ming Zhang et al. BRAIN
- An Essential Role of the Mitochondrial Electron Transport Chain in Cell Proliferation Is to Enable Aspartate Synthesis
- (2015) Kıvanç Birsoy et al. CELL
- The NAD+-Dependent SIRT1 Deacetylase Translates a Metabolic Switch into Regulatory Epigenetics in Skeletal Muscle Stem Cells
- (2015) James G. Ryall et al. Cell Stem Cell
- CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis
- (2015) E. C. Genin et al. EMBO Molecular Medicine
- CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients
- (2015) Adriano Chiò et al. NEUROBIOLOGY OF AGING
- MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins
- (2015) Sarah E. Calvo et al. NUCLEIC ACIDS RESEARCH
- Regulation of mammalian nucleotide metabolism and biosynthesis
- (2015) Andrew N. Lane et al. NUCLEIC ACIDS RESEARCH
- A mitochondrial UPR-mediated metabolic checkpoint regulates hematopoietic stem cell aging
- (2015) M. Mohrin et al. SCIENCE
- Mitochondrial respiration and redox coupling in articular chondrocytes
- (2015) Rachel S Lane et al. ARTHRITIS RESEARCH & THERAPY
- Dual-specificity phosphatases: critical regulators with diverse cellular targets
- (2015) Kate I. Patterson et al. BIOCHEMICAL JOURNAL
- Late onset spinal motor neuronopathy is caused by mutation inCHCHD10
- (2014) Sini Penttilä et al. ANNALS OF NEUROLOGY
- HTSeq--a Python framework to work with high-throughput sequencing data
- (2014) S. Anders et al. BIOINFORMATICS
- Trimmomatic: a flexible trimmer for Illumina sequence data
- (2014) Anthony M. Bolger et al. BIOINFORMATICS
- Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
- (2014) Kathrin Müller et al. BRAIN
- Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
- (2014) Janel O. Johnson et al. BRAIN
- A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
- (2014) Sylvie Bannwarth et al. BRAIN
- Disturbance of endoplasmic reticulum proteostasis in neurodegenerative diseases
- (2014) Claudio Hetz et al. NATURE REVIEWS NEUROSCIENCE
- Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
- (2014) Annabelle Chaussenot et al. NEUROBIOLOGY OF AGING
- ER stress and unfolded protein response in amyotrophic lateral sclerosis—a controversial role of protein disulphide isomerase
- (2014) Merja Jaronen et al. Frontiers in Cellular Neuroscience
- Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers
- (2014) Chancievan Thangaratnarajah et al. Nature Communications
- Mitochondrial One-Carbon Metabolism Maintains Redox Balance during Hypoxia
- (2014) I. Martinez-Reyes et al. Cancer Discovery
- Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool
- (2013) Edward Y Chen et al. BMC BIOINFORMATICS
- SIRT3 deacetylates FOXO3 to protect mitochondria against oxidative damage
- (2013) Anne H.H. Tseng et al. FREE RADICAL BIOLOGY AND MEDICINE
- CHOP induces activating transcription factor 5 (ATF5) to trigger apoptosis in response to perturbations in protein homeostasis
- (2013) Brian F. Teske et al. MOLECULAR BIOLOGY OF THE CELL
- Toward Understanding the Mechanism of Ion Transport Activity of Neuronal Uncoupling Proteins UCP2, UCP4, and UCP5
- (2012) Tuan Hoang et al. BIOCHEMISTRY
- STAR: ultrafast universal RNA-seq aligner
- (2012) Alexander Dobin et al. BIOINFORMATICS
- PGC1 and mitochondrial metabolism - emerging concepts and relevance in ageing and neurodegenerative disorders
- (2012) S. Austin et al. JOURNAL OF CELL SCIENCE
- Reduced Activity of AMP-Activated Protein Kinase Protects against Genetic Models of Motor Neuron Disease
- (2012) M. A. Lim et al. JOURNAL OF NEUROSCIENCE
- Differential analysis of gene regulation at transcript resolution with RNA-seq
- (2012) Cole Trapnell et al. NATURE BIOTECHNOLOGY
- The dynamic regulation of NAD metabolism in mitochondria
- (2012) Liana Roberts Stein et al. TRENDS IN ENDOCRINOLOGY AND METABOLISM
- Human neuronal uncoupling proteins 4 and 5 (UCP4 and UCP5): structural properties, regulation, and physiological role in protection against oxidative stress and mitochondrial dysfunction
- (2012) David B. Ramsden et al. Brain and Behavior
- Galactose Enhances Oxidative Metabolism and Reveals Mitochondrial Dysfunction in Human Primary Muscle Cells
- (2011) Céline Aguer et al. PLoS One
- Autophagy: cellular and molecular mechanisms
- (2010) Danielle Glick et al. JOURNAL OF PATHOLOGY
- Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation
- (2010) Cole Trapnell et al. NATURE BIOTECHNOLOGY
- Differential expression analysis for sequence count data
- (2010) Simon Anders et al. GENOME BIOLOGY
- XBP-1 deficiency in the nervous system protects against amyotrophic lateral sclerosis by increasing autophagy
- (2009) C. Hetz et al. GENES & DEVELOPMENT
- Systematic Analysis of the Twin Cx9C Protein Family
- (2009) Sebastian Longen et al. JOURNAL OF MOLECULAR BIOLOGY
- Capillary electrophoresis mass spectrometry-based saliva metabolomics identified oral, breast and pancreatic cancer-specific profiles
- (2009) Masahiro Sugimoto et al. Metabolomics
- Involvement of CHOP, an ER-stress apoptotic mediator, in both human sporadic ALS and ALS model mice
- (2009) Yasushi Ito et al. NEUROBIOLOGY OF DISEASE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started