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Cell, ISSN 0092-8674, 5/2018, Volume 173, Issue 4, pp. 989 - 1002.e13
Huntington’s disease (HD) is characterized by the preferential loss of the medium spiny neurons in the striatum. Using CRISPR-Cas9 and somatic nuclear transfer... 
neurodegeneration | large animal | polyglutamine | Knock-in
Journal Article
Nature methods, ISSN 1548-7105, 2016, Volume 14, Issue 1, pp. 71 - 73
Journal Article
PloS one, ISSN 1932-6203, 2013, Volume 8, Issue 1, p. e52396
Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly-inherited neurodegenerative disorder caused by the... 
NUCLEAR-LOCALIZATION | EXPANDED POLYGLUTAMINE | CEREBELLAR DYSFUNCTION | SPINOCEREBELLAR ATAXIA | CAG REPEATS | MULTIDISCIPLINARY SCIENCES | POLYGLUTAMINE-INDUCED NEURODEGENERATION | MOUSE MODEL | INTRANUCLEAR INCLUSIONS | HUNTINGTONS-DISEASE | RAT MODEL | Locomotion - genetics | Ataxin-3 | Humans | Nerve Tissue Proteins - deficiency | Machado-Joseph Disease - complications | Repressor Proteins - deficiency | Nuclear Proteins - deficiency | Anxiety - complications | Nuclear Proteins - genetics | Machado-Joseph Disease - pathology | Exploratory Behavior | Mice, Inbred C57BL | Gene Silencing | Repressor Proteins - genetics | Mice, Transgenic | Nerve Tissue Proteins - genetics | Intranuclear Inclusion Bodies - pathology | Motor Activity - genetics | Animals | Alleles | Machado-Joseph Disease - physiopathology | Mice | Mutation | Purkinje Cells - pathology | Machado-Joseph Disease - genetics | Nervous system diseases | Genetic aspects | Genetic engineering | Viral genetics | Cerebellar ataxia | Analysis | Cerebellum | Huntingtons disease | Brain | Neurosciences | Calbindin | Gait | Neuropathology | Pathogenesis | Biology | Proteins | Ataxin | Neurodegeneration | Transgenic animals | Rodents | Inclusion bodies | Ataxia | Trinucleotide repeat diseases | Quantitative analysis | Polyglutamine | Neurodegenerative diseases | RNA-mediated interference | Exploratory behavior | Abnormalities | Medical treatment | Transgenic mice | Trinucleotide repeats | Ribonucleic acid--RNA | Activity patterns | Thickness | Gene silencing | Machado-Joseph disease | Brain research | Pharmacy | DARPP-32 protein | Immunoreactivity | RNA | Ribonucleic acid
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 10/2015, Volume 7, Issue 10, pp. 1307 - 1326
Mitochondrial dysfunction is implicated in multiple neurodegenerative diseases. In order to maintain a healthy population of functional mitochondria in cells,... 
glyceraldehyde‐3‐phosphate dehydrogenase | mitophagy | Huntington's disease | polyglutamine repeats | mitochondria | Glyceraldehyde-3-phosphate dehydrogenase | Mitochondria | Mitophagy | Polyglutamine repeats | MEDICINE, RESEARCH & EXPERIMENTAL | ALZHEIMERS-DISEASE | MUTANT HUNTINGTIN | N-ACETYLCYSTEINE | AUTOPHAGY | CELL-DEATH | ABNORMAL MITOCHONDRIAL DYNAMICS | glyceraldehyde-3-phosphate dehydrogenase | GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE GAPDH | RAT-BRAIN | POLYGLUTAMINE EXPANSIONS | MOLECULAR-MECHANISMS | Glyceraldehyde 3-Phosphate Dehydrogenase (NADP+) - genetics | Polyglutamic Acid - metabolism | Cell Survival | Humans | Rats | Mitochondria - metabolism | Nerve Tissue Proteins | Huntington Disease - metabolism | PC12 Cells | Mice, Knockout | Mitochondrial Degradation | Nuclear Proteins | Huntingtin Protein | Animals | Mice | Huntington Disease - physiopathology | Glyceraldehyde 3-Phosphate Dehydrogenase (NADP+) - biosynthesis | Phosphates | Nervous system diseases | Mitochondrial DNA | Analysis | Sugars | Monosaccharides | Huntingtons disease | Cell culture | Oxidative stress | Dehydrogenases | Glyceraldehyde | Lysosomes | Kinases | Autophagy | Experiments | Proteins | Fibroblasts | Physiology | Trinucleotide repeat diseases | Cell survival | Polyglutamine | Neurodegenerative diseases | Metabolism | Pathology | Molecular modelling | Cell death | Mutation | Apoptosis | Huntington’s disease
Journal Article