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Stem Cells and Development, ISSN 1547-3287, 06/2018, Volume 27, Issue 11, pp. 756 - 770
Spinocerebellar ataxia type 3 (SCA3) is caused by an abnormal expansion of the cytosine-adenine-guanine (CAG) triplet in ATXN3 , which translates into a... 
Original Research Reports | induced pluripotent cells | CRISPR/Cas9 | SCA3 | polyglutamine | gene editing
Journal Article
The Cerebellum, ISSN 1473-4222, 2/2014, Volume 13, Issue 1, pp. 17 - 28
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1049, pp. 321 - 348
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant multiple neurological systems degenerative disorder caused by a CAG... 
Study design | Clinical trials | Machado-Joseph disease | Treatment | SCA3 | MEDICINE, RESEARCH & EXPERIMENTAL | SURROGATE END-POINTS | SPINOCEREBELLAR ATAXIA TYPE-3 | SCA3/MJD PATIENTS | NATURAL-HISTORY | NEUROSCIENCES | CLINICAL NEUROLOGY | CONTROLLED PILOT TRIAL | CEREBELLAR-ATAXIA | CROSSOVER TRIAL | GENETICS & HEREDITY | DOUBLE-BLIND | RATING-SCALES | PARKINSONIAN PHENOTYPE
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 07/2007, Volume 27, Issue 28, pp. 7418 - 7428
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly inherited neurodegenerative disorder caused by the expansion of a CAG repeat in the MJD1 gene... 
Spinocerebellar ataxia type 3 (SCA3) | Mouse model | Nuclear localization | Polyglutamine diseases | Neurodegenerative diseases | Machado-Joseph disease (MJD) | mouse model | spinocerebellar ataxia type 3 ( SCA3) | EXPANDED CAG REPEAT | MUTANT HUNTINGTIN | NEUROSCIENCES | CELL-DEATH | NEURONAL INTRANUCLEAR INCLUSIONS | neurodegenerative diseases | MACHADO-JOSEPH-DISEASE | nuclear localization | FUNCTIONAL-ANALYSIS | polyglutamine diseases | BODY FORMATION | HUNTINGTONS-DISEASE | TRANSGENIC MICE | Trinucleotide Repeats | Ataxin-3 | Machado-Joseph Disease - metabolism | Peptides - genetics | Ubiquitin - metabolism | Machado-Joseph Disease - mortality | Motor Activity | Tissue Distribution | Machado-Joseph Disease - complications | Cell Nucleus - metabolism | Inclusion Bodies - metabolism | Nuclear Proteins - genetics | Mental Disorders - etiology | Repressor Proteins - metabolism | Exploratory Behavior | Back - abnormalities | Repressor Proteins - genetics | Mice, Transgenic | Nuclear Proteins - metabolism | Machado-Joseph Disease - psychology | Nerve Tissue Proteins - genetics | Immunohistochemistry - methods | Nerve Tissue Proteins - metabolism | Phenotype | Animals | Staining and Labeling | Mice | Tremor - etiology | Nerve Degeneration - etiology | spinocerebellar ataxia type 3 (SCA3) | Machado–Joseph disease (MJD)
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2019, Volume 28, Issue 9, pp. 1463 - 1473
Abstract Spinocerebellar ataxia type 3 (SCA3) is caused by the expansion of CAG repeats in the ATXN3 gene leading to an elongated polyglutamine tract in the... 
NUCLEAR-LOCALIZATION | PROTEIN | SCA3 | BIOCHEMISTRY & MOLECULAR BIOLOGY | MACHADO-JOSEPH-DISEASE | MOUSE MODEL | GENETICS & HEREDITY | NEURODEGENERATION | EXPRESSION | MOTOR DYSFUNCTION | CONDITIONAL MODEL | TRANSGENIC MICE | Index Medicus
Journal Article
NEUROREPORT, ISSN 0959-4965, 08/2019, Volume 30, Issue 11, pp. 760 - 764
Nuclear localization of ataxin-3 plays a fundamental role in seeding aggregation and the pathology of spinocerebellar ataxia type 3 (SCA3). However, very few... 
LOCALIZATION | divalproex sodium | PROTEIN | KARYOPHERIN ALPHA-3 | SCA3 | spinocerebellar ataxia type 3 | NUCLEAR-PORE COMPLEX | importin alpha 1 | NEUROSCIENCES | nuclear transport of ataxin-3
Journal Article
NEUROBIOLOGY OF AGING, ISSN 0197-4580, 03/2019, Volume 75
DNA methylation has been reported as an important regulator of genomic structure stability, including large tandem repeats. To test the modulation effect of... 
MOUSE-BRAIN | Age at onset | METHYLTRANSFERASE | SCA3 | MJD | DNMT3A | Epigenetic regulation | NEUROSCIENCES | FAMILY | GERIATRICS & GERONTOLOGY | ATXN3 | SPINOCEREBELLAR ATAXIA | DNA methylation | EARLIER AGE | NEUROPATHOLOGY | PROTEINS | ONSET | AGGREGATION
Journal Article
Neuropharmacology, ISSN 0028-3908, 12/2015, Volume 99, pp. 308 - 317
Journal Article
Journal Article
Journal of Neurochemistry, ISSN 0022-3042, 06/2014, Volume 129, Issue 6, pp. 1013 - 1023
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 03/2019, Volume 75, pp. 225.e1 - 225.e8
DNA methylation has been reported as an important regulator of genomic structure stability, including large tandem repeats. To test the modulation effect of... 
DNA methylation | ATXN3 | Age at onset | Epigenetic regulation | SCA3 | MJD | Epigenetic inheritance | Methyltransferases | Cerebellar ataxia | Genes | DNA | Medical genetics | Genetic research | Genetic aspects | Single nucleotide polymorphisms | Methylation
Journal Article
Journal of biomolecular structure & dynamics, ISSN 0739-1102, 2/2017, Volume 35, Issue 3, pp. 504 - 519
Spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3) are two common autosomal-dominant inherited ataxia syndromes, both of which are related to the unstable... 
protein 3D structure prediction | ATXN3 | ATXN2 | SCA3 | poly-glutamine diseases | SCA2
Journal Article