Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis

Restoring Cellular Energetics Promotes Axonal Regeneration and Functional Recovery after Spinal Cord Injury

(2020) Qi Han et al.   Cell Metabolism

Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins

(2020) Masin Abo-Rady et al.   Stem Cell Reports

An in Situ Atlas of Mitochondrial DNA in Mammalian Tissues Reveals High Content in Stem/Progenitor Cells

(2020) Jiayu Chen et al.   AMERICAN JOURNAL OF PATHOLOGY

Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD

(2020) Ruxandra Dafinca et al.   Stem Cell Reports

Enhanced axonal response of mitochondria to demyelination offers neuroprotection: implications for multiple sclerosis

(2020) Simon Licht-Mayer et al.   ACTA NEUROPATHOLOGICA

Altered MICOS Morphology and Mitochondrial Ion Homeostasis Contribute to Poly(GR) Toxicity Associated with C9-ALS/FTD

(2020) Shuangxi Li et al.   Cell Reports

Loss of Tdp-43 disrupts the axonal transcriptome of motoneurons accompanied by impaired axonal translation and mitochondria function

(2020) Michael Briese et al.   Acta Neuropathologica Communications

C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?

(2020) Elke Braems et al.   ACTA NEUROPATHOLOGICA

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

(2020) Chien-Hsiung Yu et al.   CELL

C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

(2020) Casey N. Cook et al.   Science Translational Medicine

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Clinical audit research and evaluation of motor neuron disease (CARE-MND): a national electronic platform for prospective, longitudinal monitoring of MND in Scotland

(2019) Danielle Leighton et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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

(2019) So Yoen Choi et al.   NATURE NEUROSCIENCE

Familial t(1;11) translocation is associated with disruption of white matter structural integrity and oligodendrocyte–myelin dysfunction

(2019) Navneet A. Vasistha et al.   MOLECULAR PSYCHIATRY

Axonal transport and neurological disease

(2019) James N. Sleigh et al.   Nature Reviews Neurology

C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis

(2019) Scott P Allen et al.   BRAIN

Dysregulation of AMPA receptor subunit expression in sporadic ALS post‐mortem brain

(2019) Jenna M Gregory et al.   JOURNAL OF PATHOLOGY

Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs

(2019) James Hawrot et al.   NEUROBIOLOGY OF DISEASE

Differentiation but not ALS mutations in FUS rewires motor neuron metabolism

(2019) Tijs Vandoorne et al.   Nature Communications

Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology

(2019) Chen Zhao et al.   GLIA

Energy metabolism in ALS: an underappreciated opportunity?

(2018) Tijs Vandoorne et al.   ACTA NEUROPATHOLOGICA

Age-dependent neurodegeneration and organelle transport deficiencies in mutant TDP43 patient-derived neurons are independent of TDP43 aggregation

(2018) N. Kreiter et al.   NEUROBIOLOGY OF DISEASE

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

(2018) Bhuvaneish T. Selvaraj et al.   Nature Communications

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation

(2018) Marcel Naumann et al.   Nature Communications

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

(2018) Daniel A Solomon et al.   BRAIN

Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent

(2018) Koki Fujimori et al.   NATURE MEDICINE

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

The Gene Ontology Resource: 20 years and still GOing strong

(2018)   NUCLEIC ACIDS RESEARCH

Ensembl 2019

(2018) Fiona Cunningham et al.   NUCLEIC ACIDS RESEARCH

High content organelle trafficking enables disease state profiling as powerful tool for disease modelling

(2018) Arun Pal et al.   Scientific Data

Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?

(2017) Kurt J. De Vos et al.   NEUROBIOLOGY OF DISEASE

Amyotrophic Lateral Sclerosis

(2017) Robert H. Brown et al.   NEW ENGLAND JOURNAL OF MEDICINE

HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients

(2017) Wenting Guo et al.   Nature Communications

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy

(2017) Penelope J. Boyd et al.   PLoS Genetics

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

(2017) Wei Wei et al.   Acta Neuropathologica Communications

TDP-43 stabilises the processing intermediates of mitochondrial transcripts

(2017) Keiichi Izumikawa et al.   Scientific Reports

Axonal transport defects are a common phenotype inDrosophilamodels of ALS

(2016) Katie R. Baldwin et al.   HUMAN MOLECULAR GENETICS

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

(2016) Wenzhang Wang et al.   NATURE MEDICINE

Modeling ALS with motor neurons derived from human induced pluripotent stem cells

(2016) Samuel Sances et al.   NATURE NEUROSCIENCE

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 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

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

(2016) Elisa Onesto et al.   Acta Neuropathologica Communications

A revision of the El Escorial criteria - 2015

(2015) Albert Ludolph et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Modeling ALS with iPSCs Reveals that Mutant SOD1 Misregulates Neurofilament Balance in Motor Neurons

(2014) Hong Chen et al.   Cell Stem Cell

Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1

(2014) Evangelos Kiskinis et al.   Cell Stem Cell

Mitochondrial Biogenesis: A Therapeutic Target for Neurodevelopmental Disorders and Neurodegenerative Diseases

(2014) Martine Uittenbogaard et al.   CURRENT PHARMACEUTICAL DESIGN

The inwardly rectifying K+ channel KIR7.1 controls uterine excitability throughout pregnancy

(2014) C. McCloskey et al.   EMBO Molecular Medicine

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes

(2014) Yves Maury et al.   NATURE BIOTECHNOLOGY

ALS—dying forward, backward or outward?

(2014) Mark R. Baker   Nature Reviews Neurology

A Computational Model of Motor Neuron Degeneration

(2014) Gwendal Le Masson et al.   NEURON

Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations

(2014) Nael H. Alami et al.   NEURON

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle

(2014) John P. Grady et al.   PLoS One

Mitochondrial immobilization mediated by syntaphilin facilitates survival of demyelinated axons

(2014) Nobuhiko Ohno et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

(2013) Y. Liao et al.   BIOINFORMATICS

Vesicular Glycolysis Provides On-Board Energy for Fast Axonal Transport

(2013) Diana Zala et al.   CELL

Mechanisms for axon maintenance and plasticity in motoneurons: alterations in motoneuron disease

(2013) Sibylle Jablonka et al.   JOURNAL OF ANATOMY

WldS and PGC-1  Regulate Mitochondrial Transport and Oxidation State after Axonal Injury

(2013) K. C. O'Donnell et al.   JOURNAL OF NEUROSCIENCE

Opportunities and challenges of pluripotent stem cell neurodegenerative disease models

(2013) Jackson Sandoe et al.   NATURE NEUROSCIENCE

Amyotrophic lateral sclerosis—a model of corticofugal axonal spread

(2013) Heiko Braak et al.   Nature Reviews Neurology

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Breast cancer outcomes by steroid hormone receptor status assessed visually and by computer image analysis

(2012) Zahra M A Mohammed et al.   HISTOPATHOLOGY

Local axonal function of STAT3 rescues axon degeneration in thepmnmodel of motoneuron disease

(2012) Bhuvaneish Thangaraj Selvaraj et al.   JOURNAL OF CELL BIOLOGY

PGC1  and mitochondrial metabolism - emerging concepts and relevance in ageing and neurodegenerative disorders

(2012) S. Austin et al.   JOURNAL OF CELL SCIENCE

PGC-1  Negatively Regulates Extrasynaptic NMDAR Activity and Excitotoxicity

(2012) C. Puddifoot et al.   JOURNAL OF NEUROSCIENCE

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Mitochondrial DNA deletions and depletion within paraspinal muscles

(2012) G. R. Campbell et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Camera: a competitive gene set test accounting for inter-gene correlation

(2012) Di Wu et al.   NUCLEIC ACIDS RESEARCH

Human mitochondrial RNA decay mediated by PNPase–hSuv3 complex takes place in distinct foci

(2012) Lukasz S. Borowski et al.   NUCLEIC ACIDS RESEARCH

Drug Screening for ALS Using Patient-Specific Induced Pluripotent Stem Cells

(2012) N. Egawa et al.   Science Translational Medicine

Transcriptional integration of mitochondrial biogenesis

(2012) Richard C. Scarpulla et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Mitochondrial DNA as a non-invasive biomarker: Accurate quantification using real time quantitative PCR without co-amplification of pseudogenes and dilution bias

(2011) Afshan N. Malik et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Simple Neurite Tracer: open source software for reconstruction, visualization and analysis of neuronal processes

(2011) M. H. Longair et al.   BIOINFORMATICS

The Human Brain in a Dish: The Promise of iPSC-Derived Neurons

(2011) Ricardo Dolmetsch et al.   CELL

The Human Mitochondrial Transcriptome

(2011) Tim R. Mercer et al.   CELL

Impact of PGC-1α on the topology and rate of superoxide production by the mitochondrial electron transport chain

(2011) Shane Austin et al.   FREE RADICAL BIOLOGY AND MEDICINE

RNAscope

(2011) Fay Wang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

TDP-43 knockdown impairs neurite outgrowth dependent on its target histone deacetylase 6

(2011) Fabienne C Fiesel et al.   Molecular Neurodegeneration

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

Implications of Inconsistent Measurement of ER Status in Non-Invasive Breast Cancer: A Study of 1,684 Cases from the Sloane Project

(2009) Jeremy Thomas et al.   Breast Journal

Walking the walk: how kinesin and dynein coordinate their steps

(2009) Arne Gennerich et al.   CURRENT OPINION IN CELL BIOLOGY

Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy

(2009) Christian M. Simon et al.   HUMAN MOLECULAR GENETICS