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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 1 to 9 of 9

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Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16.
Shi CH, Rubel C, Soss SE, Sanchez-Hodge R, Zhang S, Madrigal SC, Ravi S, McDonough H, Page RC, Chazin WJ, Patterson C, Mao CY, Willis MS, Luo HY, Li YS, Stevens DA, Tang MB, Du P, Wang YH, Hu ZW, Xu YM, Schisler JC
(2018) PLoS Genet 14: e1007664
MeSH Terms: Animals, Behavior, Animal, CRISPR-Cas Systems, Cognition, Disease Models, Animal, Female, Humans, Male, Mice, Mice, Inbred C57BL, Models, Molecular, Motor Activity, Mutagenesis, Site-Directed, Phenotype, Point Mutation, Protein Domains, Protein Multimerization, Rats, Rats, Sprague-Dawley, Spinocerebellar Ataxias, Ubiquitin-Protein Ligases
Added March 26, 2019
0 Communities
1 Members
0 Resources
MeSH Terms
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.
Pfeffer G, Blakely EL, Alston CL, Hassani A, Boggild M, Horvath R, Samuels DC, Taylor RW, Chinnery PF
(2012) J Neurol Neurosurg Psychiatry 83: 883-6
MeSH Terms: Adult, Age of Onset, Child, Preschool, Female, Genetic Testing, Humans, Male, Middle Aged, Mitochondrial Proton-Translocating ATPases, Mutation, Pedigree, Spinocerebellar Ataxias
Added December 12, 2013
0 Communities
1 Members
0 Resources
12 MeSH Terms
MRI shows a region-specific pattern of atrophy in spinocerebellar ataxia type 2.
Jung BC, Choi SI, Du AX, Cuzzocreo JL, Ying HS, Landman BA, Perlman SL, Baloh RW, Zee DS, Toga AW, Prince JL, Ying SH
(2012) Cerebellum 11: 272-9
MeSH Terms: Adult, Aged, Atrophy, Biomarkers, Brain Mapping, Case-Control Studies, Cerebellum, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Spinocerebellar Ataxias
Added March 26, 2014
0 Communities
1 Members
0 Resources
13 MeSH Terms
Genetic modifiers of neurological disease.
Kearney JA
(2011) Curr Opin Genet Dev 21: 349-53
MeSH Terms: Animals, Carrier Proteins, Charcot-Marie-Tooth Disease, Disease Models, Animal, Humans, Huntington Disease, Mice, Nervous System Diseases, Phenotype, RNA Splicing Factors, Rett Syndrome, Spinocerebellar Ataxias
Added May 27, 2014
0 Communities
1 Members
0 Resources
12 MeSH Terms
Diffusion tensor imaging reveals disease-specific deep cerebellar nuclear changes in cerebellar degeneration.
Du AX, Cuzzocreo JL, Landman BA, Zee DS, Prince JL, Ying SH
(2010) J Neurol 257: 1406-8
MeSH Terms: Cerebellar Ataxia, Cerebellar Nuclei, Diffusion Tensor Imaging, Female, Humans, Male, Nerve Fibers, Myelinated, Spinocerebellar Ataxias, Wallerian Degeneration
Added March 26, 2014
0 Communities
1 Members
0 Resources
9 MeSH Terms
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.
Lim J, Crespo-Barreto J, Jafar-Nejad P, Bowman AB, Richman R, Hill DE, Orr HT, Zoghbi HY
(2008) Nature 452: 713-8
MeSH Terms: Alleles, Animals, Ataxin-1, Ataxins, Drosophila Proteins, Drosophila melanogaster, Humans, Mice, Multiprotein Complexes, Nerve Tissue Proteins, Nuclear Proteins, Open Reading Frames, Peptides, Protein Binding, Protein Structure, Quaternary, Purkinje Cells, RNA Splicing Factors, RNA-Binding Proteins, Repressor Proteins, Ribonucleoprotein, U2 Small Nuclear, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion, Two-Hybrid System Techniques
Added April 7, 2010
1 Communities
1 Members
0 Resources
23 MeSH Terms
Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes.
Bowman AB, Lam YC, Jafar-Nejad P, Chen HK, Richman R, Samaco RC, Fryer JD, Kahle JJ, Orr HT, Zoghbi HY
(2007) Nat Genet 39: 373-9
MeSH Terms: Animals, Ataxin-1, Ataxins, Cells, Cultured, Cerebellum, DNA Repeat Expansion, Embryonic Stem Cells, Mice, Mice, Inbred C57BL, Mice, Knockout, Mice, Transgenic, Models, Biological, Models, Genetic, Molecular Sequence Data, Nerve Tissue Proteins, Nuclear Proteins, Peptides, Purkinje Cells, Repressor Proteins, Spinocerebellar Ataxias
Added April 7, 2010
1 Communities
1 Members
0 Resources
20 MeSH Terms
ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology.
Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, Fryer JD, Hyun ED, Duvick LA, Orr HT, Botas J, Zoghbi HY
(2006) Cell 127: 1335-47
MeSH Terms: Amino Acid Sequence, Animals, Animals, Genetically Modified, Ataxin-1, Ataxins, Brain, Cerebellum, Conserved Sequence, Drosophila, Eye Abnormalities, Humans, Mice, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Nuclear Proteins, Peptides, Repressor Proteins, Sequence Homology, Amino Acid, Spinocerebellar Ataxias, Transcription, Genetic, Wings, Animal
Added April 7, 2010
1 Communities
1 Members
0 Resources
22 MeSH Terms
Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation.
Bowman AB, Yoo SY, Dantuma NP, Zoghbi HY
(2005) Hum Mol Genet 14: 679-91
MeSH Terms: Animals, Ataxin-7, Disease Models, Animal, Genes, Reporter, Intranuclear Inclusion Bodies, Mice, Nerve Tissue Proteins, Neurons, Peptides, Photoreceptor Cells, Proteasome Endopeptidase Complex, RNA, Messenger, Spinocerebellar Ataxias, Ubiquitin
Added April 7, 2010
1 Communities
1 Members
0 Resources
14 MeSH Terms