FTLD Patient–Derived Fibroblasts Show Defective Mitochondrial Function and Accumulation of p62

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

(2020) Jazmyne L. Jackson et al.   Molecular Neurodegeneration

Proteostasis and Proteotoxicity in the Network Medicine Era

(2020) Marta Lualdi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

BV-2 Microglial Cells Overexpressing C9orf72 Hexanucleotide Repeat Expansion Produce DPR Proteins and Show Normal Functionality but No RNA Foci

(2020) Hannah Rostalski et al.   Frontiers in Neurology

ER stress differentially affects pro-inflammatory changes induced by mitochondrial dysfunction in the human monocytic leukemia cell line, THP-1

(2019) Jae-Nyoung Heo et al.   CELL BIOLOGY INTERNATIONAL

Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies

(2019) Ana Bajc Česnik et al.   JOURNAL OF CELL SCIENCE

An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology

(2019) Lieselot Dedeene et al.   ACTA NEUROPATHOLOGICA

C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo

(2019) So Yoen Choi et al.   NATURE NEUROSCIENCE

Oxidative Stress in Neurodegenerative Diseases: From a Mitochondrial Point of View

(2019) Giovanna Cenini et al.   Oxidative Medicine and Cellular Longevity

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

(2019) Christopher P. Cali et al.   ACTA NEUROPATHOLOGICA

Dipeptide repeat (DPR) pathology in the skeletal muscle of ALS patients with C9ORF72 repeat expansion

(2019) Matthew D. Cykowski et al.   ACTA NEUROPATHOLOGICA

C9ORF72-related cellular pathology in skeletal myocytes derived from ALS-patient induced pluripotent stem cells

(2019) Eileen Lynch et al.   Disease Models & Mechanisms

Neurons Induced From Fibroblasts of c9ALS/FTD Patients Reproduce the Pathology Seen in the Central Nervous System

(2019) Peter O. Bauer et al.   Frontiers in Neuroscience

C9orf72 Proteins Regulate Autophagy and Undergo Autophagosomal or Proteasomal Degradation in a Cell Type-Dependent Manner

(2019) Leskelä et al.   Cells

The MKK7 inhibitor peptide GADD45β-I attenuates ER stress-induced mitochondrial dysfunction in HT22 cells: Involvement of JNK-Wnt pathway

(2018) Quan-Hua Xu et al.   BRAIN RESEARCH

In Situ Structure of Neuronal C9orf72 Poly-GA Aggregates Reveals Proteasome Recruitment

(2018) Qiang Guo et al.   CELL

Inhibition of Drp1/Fis1 interaction slows progression of amyotrophic lateral sclerosis

(2018) Amit U Joshi et al.   EMBO Molecular Medicine

Gene Expression Profile in Frontal Cortex in Sporadic Frontotemporal Lobar Degeneration-TDP

(2018) Pol Andrés-Benito et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency

(2018) Guilhian Leipnitz et al.   Scientific Reports

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

(2018) Petra Frick et al.   Acta Neuropathologica Communications

Monitoring and Measuring Autophagy

(2017) Saori R. Yoshii et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Neuroprotective Effects of Protein Tyrosine Phosphatase 1B Inhibition against ER Stress-Induced Toxicity

(2017) Yu-Mi Jeon et al.   MOLECULES AND CELLS

The role of mitochondria in amyotrophic lateral sclerosis

(2017) Emma F. Smith et al.   NEUROSCIENCE LETTERS

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis

(2017) Tania F. Gendron et al.   Science Translational Medicine

Autophagy and Its Impact on Neurodegenerative Diseases: New Roles for TDP-43 and C9orf72

(2017) Mauricio Budini et al.   Frontiers in Molecular Neuroscience

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

(2016) Daniel J Klionsky et al.   Autophagy

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

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

(2016) Christopher P Webster et al.   EMBO JOURNAL

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

(2016) Joseph Amick et al.   MOLECULAR BIOLOGY OF THE CELL

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 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

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

(2016) Janet Ugolino et al.   PLoS Genetics

A Novel Protocol for Directed Differentiation of C9orf72-Associated Human Induced Pluripotent Stem Cells Into Contractile Skeletal Myotubes

(2016) Elliot W. Swartz et al.   Stem Cells Translational Medicine

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

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

(2016) Elisa Onesto et al.   Acta Neuropathologica Communications

ER stress: Autophagy induction, inhibition and selection

(2015) Harun-Or Rashid et al.   Autophagy

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations

(2015) Mario Sabatelli et al.   NEUROBIOLOGY OF AGING

Altered age-related changes in bioenergetic properties and mitochondrial morphology in fibroblasts from sporadic amyotrophic lateral sclerosis patients

(2015) Scott P. Allen et al.   NEUROBIOLOGY OF AGING

Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features

(2015) Shu Yang et al.   NEUROTOXICITY RESEARCH

C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

(2015) J. Chew et al.   SCIENCE

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

(2014) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS

(2014) Mai Yamakawa et al.   HUMAN MOLECULAR GENETICS

The phenotypic variability of amyotrophic lateral sclerosis

(2014) Bart Swinnen et al.   Nature Reviews Neurology

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

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

(2013) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

(2013) Timothy P. Levine et al.   BIOINFORMATICS

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

(2013) O. Dols-Icardo et al.   HUMAN MOLECULAR GENETICS

Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models

(2013) Jordi Magrané et al.   HUMAN MOLECULAR GENETICS

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD

(2013) Naoki Suzuki et al.   NATURE NEUROSCIENCE

Superoxide dismutase 1 mutation in a cellular model of amyotrophic lateral sclerosis shifts energy generation from oxidative phosphorylation to glycolysis

(2013) Scott P. Allen et al.   NEUROBIOLOGY OF AGING

Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

(2013) Fernando Bartolome et al.   NEURON

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) K. Mori et al.   SCIENCE

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

(2012) Kevin F. Bieniek et al.   ACTA NEUROPATHOLOGICA

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

(2012) Dapeng Zhang et al.   Frontiers in Genetics

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

A harmonized classification system for FTLD-TDP pathology

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Autophagy: Renovation of Cells and Tissues

(2011) Noboru Mizushima et al.   CELL

DENN Domain Proteins: Regulators of Rab GTPases

(2011) Andrea L. Marat et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ER stress is implicated in mitochondrial dysfunction-induced apoptosis of pancreatic beta cells

(2011) June Woo Lee et al.   MOLECULES AND CELLS

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

(2011) Mariely DeJesus-Hernandez et al.   NEURON

The sites and topology of mitochondrial superoxide production

(2010) Martin D. Brand   EXPERIMENTAL GERONTOLOGY

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

(2009) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

How mitochondria produce reactive oxygen species

(2008) Michael P. Murphy   BIOCHEMICAL JOURNAL

Coupling mitochondrial dysfunction to endoplasmic reticulum stress response: A molecular mechanism leading to hepatic insulin resistance

(2008) J LIM et al.   CELLULAR SIGNALLING