Identification of Novel Therapeutic Targets for Polyglutamine Diseases That Target Mitochondrial Fragmentation

Small-molecule suppression of calpastatin degradation reduces neuropathology in models of Huntington’s disease

(2021) Di Hu et al.   Nature Communications

Mitochondrial fission in Huntington's disease mouse striatum disrupts ER-mitochondria contacts leading to disturbances in Ca2+ efflux and Reactive Oxygen Species (ROS) homeostasis

(2020) Marta Cherubini et al.   NEUROBIOLOGY OF DISEASE

Disruption of mitochondrial dynamics increases stress resistance through activation of multiple stress response pathways

(2020) Emily Machiela et al.   FASEB JOURNAL

Inhibition, crystal structures, and in-solution oligomeric structure of aldehyde dehydrogenase 9A1

(2020) Jesse W. Wyatt et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Mitochondrial SIRT3 confers neuroprotection in Huntington's disease by regulation of oxidative challenges and mitochondrial dynamics

(2020) Luana Naia et al.   FREE RADICAL BIOLOGY AND MEDICINE

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

(2019) Jacqueline M. Ward et al.   Cell Reports

Activation of DAF-16/FOXO by reactive oxygen species contributes to longevity in long-lived mitochondrial mutants in Caenorhabditis elegans

(2018) Megan M. Senchuk et al.   PLoS Genetics

Polyglutamine Repeats in Neurodegenerative Diseases

(2018) Andrew P. Lieberman et al.   Annual Review of Pathology-Mechanisms of Disease

Inhibition of Drp1 hyperactivation reduces neuropathology and behavioral deficits in zQ175 knock-in mouse model of Huntington's disease

(2018) Yuanyuan Zhao et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mitochondrial unfolded protein response transcription factor ATFS-1 promotes longevity in a long-lived mitochondrial mutant through activation of stress response pathways

(2018) Ziyun Wu et al.   BMC BIOLOGY

Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3

(2018) Tina Harmuth et al.   Frontiers in Molecular Neuroscience

Drp1/Fis1-mediated mitochondrial fragmentation leads to lysosomal dysfunction in cardiac models of Huntington's disease

(2018) A.U. Joshi et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

(2017) Doriana Borgia et al.   HUMAN MOLECULAR GENETICS

Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters

(2017) Nanna Cornelius et al.   MITOCHONDRION

Activation of the mitochondrial unfolded protein response promotes longevity and dopamine neuron survival in Parkinson’s disease models

(2017) Jason F. Cooper et al.   Scientific Reports

Reliable CRISPR/Cas9 Genome Engineering in Caenorhabditis elegans Using a Single Efficient sgRNA and an Easily Recognizable Phenotype

(2017) Sonia El Mouridi et al.   G3-Genes Genomes Genetics

Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model

(2017) Austin Ferro et al.   PLoS One

Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet

(2016) Anna Rocchi et al.   ACTA NEUROPATHOLOGICA

Aging causes decreased resistance to multiple stresses and a failure to activate specific stress response pathways

(2016) Dylan J. Dues et al.   Aging-US

A novel de novo dominant negative mutation inDNM1Limpairs mitochondrial fission and presents as childhood epileptic encephalopathy

(2016) Jill A. Fahrner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Oxidative stress is increased in C. elegans models of Huntington’s disease but does not contribute to polyglutamine toxicity phenotypes

(2016) Emily Machiela et al.   NEUROBIOLOGY OF DISEASE

Rescue of Metabolic Alterations in AR113Q Skeletal Muscle by Peripheral Androgen Receptor Gene Silencing

(2016) Elisa Giorgetti et al.   Cell Reports

Variation in the link between oxygen consumption and ATP production, and its relevance for animal performance: Table 1.

(2015) Karine Salin et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Mitochondrial and Cytoplasmic ROS Have Opposing Effects on Lifespan

(2015) Claire E. Schaar et al.   PLoS Genetics

S-Nitrosylation of Dynamin-Related Protein 1 Mediates Mutant Huntingtin-Induced Mitochondrial Fragmentation and Neuronal Injury in Huntington's Disease

(2013) Florian Haun et al.   ANTIOXIDANTS & REDOX SIGNALING

Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy

(2013) Jong-Min Lee et al.   HUMAN MOLECULAR GENETICS

Inhibition of mitochondrial fragmentation diminishes Huntington’s disease–associated neurodegeneration

(2013) Xing Guo et al.   JOURNAL OF CLINICAL INVESTIGATION

Impaired Mitochondrial Dynamics and Nrf2 Signaling Contribute to Compromised Responses to Oxidative Stress in Striatal Cells Expressing Full-Length Mutant Huntingtin

(2013) Youngnam N. Jin et al.   PLoS One

Neuron-Specific Feeding RNAi in C. elegans and Its Use in a Screen for Essential Genes Required for GABA Neuron Function

(2013) Christopher Firnhaber et al.   PLoS Genetics

Large-scale functional RNAi screen in C. elegans identifies genes that regulate the dysfunction of mutant polyglutamine neurons

(2012) François-Xavier Lejeune et al.   BMC GENOMICS

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

(2012) Veronica Costa et al.   EMBO JOURNAL

Patterns of Mitochondrial DNA Damage in Blood and Brain Tissues of a Transgenic Mouse Model of Machado-Joseph Disease

(2012) Nadiya Kazachkova et al.   Neurodegenerative Diseases

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

(2012) J.- M. Lee et al.   NEUROLOGY

FUdR causes a twofold increase in the lifespan of the mitochondrial mutant gas-1

(2011) Jeremy Michael Van Raamsdonk et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity

(2011) Wenjun Song et al.   NATURE MEDICINE

Mitochondrial energy metabolism and ageing

(2010) Ivana Bratic et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mitochondrial fission and cristae disruption increase the response of cell models of Huntington's disease to apoptotic stimuli

(2010) Veronica Costa et al.   EMBO Molecular Medicine

Nature and cause of mitochondrial dysfunction in Huntington’s disease: focusing on huntingtin and the striatum

(2010) Jorge M. A. Oliveira   JOURNAL OF NEUROCHEMISTRY

Enhanced neuronal RNAi in C. elegans using SID-1

(2010) Andrea Calixto et al.   NATURE METHODS

The dynamin-related GTPase Drp1 is required for embryonic and brain development in mice

(2009) Junko Wakabayashi et al.   JOURNAL OF CELL BIOLOGY

C. elegans longevity pathways converge to decrease mitochondrial membrane potential

(2009) Bernard D. Lemire et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice

(2009) Naotada Ishihara et al.   NATURE CELL BIOLOGY

Effects of overexpression of Huntingtin proteins on mitochondrial integrity

(2008) Hongmin Wang et al.   HUMAN MOLECULAR GENETICS

Mitochondrial abnormalities in spinal and bulbar muscular atrophy

(2008) Srikanth Ranganathan et al.   HUMAN MOLECULAR GENETICS

An RNAi Screen for Mitochondrial Proteins Required to Maintain the Morphology of the Organelle in Caenorhabditis elegans

(2008) Ryohei Ichishita et al.   JOURNAL OF BIOCHEMISTRY