C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

(2020) Qiang Zhu et al.   NATURE NEUROSCIENCE

TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS

(2020) Chien-Hsiung Yu et al.   CELL

Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD

(2020) Ming-Yuan Su et al.   NATURE

C9orf72 in myeloid cells suppresses STING-induced inflammation

(2020) Madelyn E. McCauley et al.   NATURE

Spatially Stable Mitochondrial Compartments Fuel Local Translation during Plasticity

(2019) Vidhya Rangaraju et al.   CELL

C9orf72 deficiency promotes motor deficits of a C9ALS/FTD mouse model in a dose-dependent manner

(2019) Qiang Shao et al.   Acta Neuropathologica Communications

m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration

(2018) Maria Patron et al.   CELL RESEARCH

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

FUS interacts with ATP synthase beta subunit and induces mitochondrial unfolded protein response in cellular and animal models

(2018) Jianwen Deng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A C9orf72–CARM1 axis regulates lipid metabolism under glucose starvation-induced nutrient stress

(2018) Yang Liu et al.   GENES & DEVELOPMENT

Landscape of submitochondrial protein distribution

(2017) F.-Nora Vögtle et al.   Nature Communications

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

(2016) Chantal Sellier et al.   EMBO JOURNAL

C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress

(2016) Niran Maharjan et al.   MOLECULAR NEUROBIOLOGY

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Accessory subunits are integral for assembly and function of human mitochondrial complex I

(2016) David A. Stroud et al.   NATURE

The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity

(2016) Wenzhang Wang et al.   NATURE MEDICINE

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

(2016) Rajeeve Sivadasan et al.   NATURE NEUROSCIENCE

Poly(GR) in C9ORF72 -Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

(2016) Rodrigo Lopez-Gonzalez et al.   NEURON

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Demen

(2016) Ruxandra Dafinca et al.   STEM CELLS

Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease

(2016) Nazanine Modjtahedi et al.   TRENDS IN BIOCHEMICAL SCIENCES

Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling

(2016) Janet Ugolino et al.   PLoS Genetics

A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy

(2016) M. Yang et al.   Science Advances

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

(2016) Peter M. Sullivan et al.   Acta Neuropathologica Communications

Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis

(2015) Emilie Hangen et al.   MOLECULAR CELL

Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration–associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways

(2015) Tao Wang et al.   NEUROBIOLOGY OF AGING

Generation and expansion of highly pure motor neuron progenitors from human pluripotent stem cells

(2015) Zhong-Wei Du et al.   Nature Communications

Activity-Driven Local ATP Synthesis Is Required for Synaptic Function

(2014) Vidhya Rangaraju et al.   CELL

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

(2014) Adrian J. Waite et al.   NEUROBIOLOGY OF AGING

Transcriptional and metabolic adaptation of human neurons to the mitochondrial toxicant MPP+

(2014) A K Krug et al.   Cell Death & Disease

TIMMDC1/C3orf1 Functions as a Membrane-Embedded Mitochondrial Complex I Assembly Factor through Association with the MCIA Complex

(2013) Virginia Guarani et al.   MOLECULAR AND CELLULAR BIOLOGY

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Imaging energy status in live cells with a fluorescent biosensor of the intracellular ATP-to-ADP ratio

(2013) Mathew Tantama et al.   Nature Communications

C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease

(2013) Matthew Harms et al.   JAMA Neurology

Commitment to glycolysis sustains survival of NO-producing inflammatory dendritic cells

(2012) B. Everts et al.   BLOOD

Shaping the role of mitochondria in the pathogenesis of Huntington's disease

(2012) Veronica Costa et al.   EMBO JOURNAL

Early complex I assembly defects result in rapid turnover of the ND1 subunit

(2012) O. Zurita Rendon et al.   HUMAN MOLECULAR GENETICS

Gene Knockout Using Transcription Activator-like Effector Nucleases (TALENs) Reveals That Human NDUFA9 Protein Is Essential for Stabilizing the Junction between Membrane and Matrix Arms of Complex I

(2012) David A. Stroud et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Oxidative Phosphorylation, Not Glycolysis, Powers Presynaptic and Postsynaptic Mechanisms Underlying Brain Information Processing

(2012) C. N. Hall et al.   JOURNAL OF NEUROSCIENCE

Repeat Expansion inC9ORF72in Alzheimer's Disease

(2012) Elisa Majounie et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mia40-dependent oxidation of cysteines in domain I of Ccs1 controls its distribution between mitochondria and the cytosol

(2011) Christine Klöppel et al.   MOLECULAR BIOLOGY OF THE CELL

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Energy metabolism in amyotrophic lateral sclerosis

(2010) Luc Dupuis et al.   LANCET NEUROLOGY

Prohibitins and the functional compartmentalization of mitochondrial membranes

(2009) C. Osman et al.   JOURNAL OF CELL SCIENCE

A Versatile Viral System for Expression and Depletion of Proteins in Mammalian Cells

(2009) Eric Campeau et al.   PLoS One

Prohibitin function within mitochondria: Essential roles for cell proliferation and cristae morphogenesis

(2008) Carsten Merkwirth et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Prohibitins control cell proliferation and apoptosis by regulating OPA1-dependent cristae morphogenesis in mitochondria

(2008) C. Merkwirth et al.   GENES & DEVELOPMENT

Respiratory Active Mitochondrial Supercomplexes

(2008) Rebeca Acín-Pérez et al.   MOLECULAR CELL