Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses

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