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Published in 2019 at "Brain Research"
DOI: 10.1016/j.brainres.2018.12.045
Abstract: A hexanucleotide GGCCTG repeat expansion in intron 1 of the nucleolar protein 56 gene causes spinocerebellar ataxia type 36 (SCA36), which is a relatively pure cerebellar ataxia with progressive motor neuron involvement. In this study…
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Keywords:
repeat;
ggccug;
elongation factor;
sca36 ... See more keywords
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Published in 2023 at "Pathology and Oncology Research"
DOI: 10.3389/pore.2023.1610884
Abstract: NOP56 is a highly conserved nucleolar protein. Amplification of the intron GGCCTG hexanucleotide repeat sequence of the NOP56 gene results in spinal cerebellar ataxia type 36 (SCA36). NOP56 contains an N-terminal domain, a coiled-coil domain,…
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Keywords:
cancer sca36;
roles nop56;
nop56 cancer;
domain ... See more keywords