Expression of mutant exon 1 huntingtin fragments in human neural stem cells and neurons causes inclusion formation and mitochondrial dysfunction

Identification of distinct conformations associated with monomers and fibril assemblies of mutant huntingtin

(2018) Jan Ko et al.   HUMAN MOLECULAR GENETICS

The chicken or the egg: mitochondrial dysfunction as a cause or consequence of toxicity in Huntington’s disease

(2017) Aris A. Polyzos et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Mutant Huntingtin Disrupts the Nuclear Pore Complex

(2017) Jonathan C. Grima et al.   NEURON

Huntingtin Inclusions Trigger Cellular Quiescence, Deactivate Apoptosis, and Lead to Delayed Necrosis

(2017) Yasmin M. Ramdzan et al.   Cell Reports

Taming Human Genetic Variability: Transcriptomic Meta-Analysis Guides the Experimental Design and Interpretation of iPSC-Based Disease Modeling

(2017) Pierre-Luc Germain et al.   Stem Cell Reports

The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients

(2017) Andreas Neueder et al.   Scientific Reports

Reduced Mitochondrial Function in Human Huntington Disease Lymphoblasts is Not Due to Alterations in Cardiolipin Metabolism or Mitochondrial Supercomplex Assembly

(2016) Edgard M. Mejia et al.   LIPIDS

Soluble Oligomers of PolyQ-Expanded Huntingtin Target a Multiplicity of Key Cellular Factors

(2016) Yujin E. Kim et al.   MOLECULAR CELL

Mitochondrial dynamics and quality control in Huntington's disease

(2016) Pedro Guedes-Dias et al.   NEUROBIOLOGY OF DISEASE

Folding Landscape of Mutant Huntingtin Exon1: Diffusible Multimers, Oligomers and Fibrils, and No Detectable Monomer

(2016) Bankanidhi Sahoo et al.   PLoS One

Olesoxime suppresses calpain activation and mutant huntingtin fragmentation in the BACHD rat

(2015) Laura E. Clemens et al.   BRAIN

Oxidative metabolism in YAC128 mouse model of Huntington's disease

(2015) James Hamilton et al.   HUMAN MOLECULAR GENETICS

A 3D human neural cell culture system for modeling Alzheimer's disease

(2015) Young Hye Kim et al.   Nature Protocols

Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA

(2015) A. C. Woerner et al.   SCIENCE

Huntingtin protein is essential for mitochondrial metabolism, bioenergetics and structure in murine embryonic stem cells

(2014) Ismail Ismailoglu et al.   DEVELOPMENTAL BIOLOGY

Comparative study of naturally occurring huntingtin fragments in Drosophila points to exon 1 as the most pathogenic species in Huntington's disease

(2014) Brett A. Barbaro et al.   HUMAN MOLECULAR GENETICS

Quantification Assays for Total and Polyglutamine-Expanded Huntingtin Proteins

(2014) Douglas Macdonald et al.   PLoS One

PolyQ Proteins Interfere with Nuclear Degradation of Cytosolic Proteins by Sequestering the Sis1p Chaperone

(2013) Sae-Hun Park et al.   CELL

A novel human embryonic stem cell-derived Huntington's disease neuronal model exhibits mutant huntingtin (mHTT) aggregates and soluble mHTT-dependent neurodegeneration

(2013) Boxun Lu et al.   FASEB JOURNAL

Early Deficits in Glycolysis Are Specific to Striatal Neurons from a Rat Model of Huntington Disease

(2013) Caroline Gouarné et al.   PLoS One

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

(2013) K. Sathasivam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Suppression of protein aggregation by chaperone modification of high molecular weight complexes

(2012) John Labbadia et al.   BRAIN

Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes

(2012) The HD iPSC Consortium   Cell Stem Cell

Genetic Correction of Huntington's Disease Phenotypes in Induced Pluripotent Stem Cells

(2012) Mahru C. An et al.   Cell Stem Cell

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

Light and electron microscopic characterization of the evolution of cellular pathology in the R6/1 Huntington's disease transgenic mice

(2011) Zubeyde Bayram-Weston et al.   BRAIN RESEARCH BULLETIN

Altered chromatin architecture underlies progressive impairment of the heat shock response in mouse models of Huntington disease

(2011) John Labbadia et al.   JOURNAL OF CLINICAL INVESTIGATION

Quantitative Relationships between Huntingtin Levels, Polyglutamine Length, Inclusion Body Formation, and Neuronal Death Provide Novel Insight into Huntington's Disease Molecular Pathogenesis

(2010) J. Miller et al.   JOURNAL OF NEUROSCIENCE

Huntington's disease: from molecular pathogenesis to clinical treatment

(2010) Christopher A Ross et al.   LANCET NEUROLOGY

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

(2010) Luis C. López et al.   PLoS One

PINK1-Associated Parkinson's Disease Is Caused by Neuronal Vulnerability to Calcium-Induced Cell Death

(2009) Sonia Gandhi et al.   MOLECULAR CELL

Distinct conformations of in vitro and in vivo amyloids of huntingtin-exon1 show different cytotoxicity

(2009) Y. Nekooki-Machida et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Towards a transgenic model of Huntington’s disease in a non-human primate

(2008) Shang-Hsun Yang et al.   NATURE

Inhibition of neurite outgrowth and promotion of cell death by cytoplasmic soluble mutant huntingtin stably transfected in mouse neuroblastoma cells

(2008) Cuifang Ye et al.   NEUROSCIENCE LETTERS

PINK1 Is Necessary for Long Term Survival and Mitochondrial Function in Human Dopaminergic Neurons

(2008) Alison Wood-Kaczmar et al.   PLoS One