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Spinocerebellar ataxia
Core of basic research: Focus on the protein toxicity caused by trinucleotide repeat expansion in pathogenic genes (ATXN1/2/3, etc.), explore the impact of abnormal aggregation of mutant proteins on cerebellar and spinal neuronal functions, as well as the pathogenic effects of transcriptional regulation and cytoskeletal dysfunction.
Core key proteins: ATXN1 (pathogenic protein for SCA1), ATXN2 (pathogenic protein for SCA2), ATXN3 (pathogenic protein for SCA3), ATXN7 (pathogenic protein for SCA7), CACNA1A (pathogenic protein for SCA6, calcium channel subunit), TBP (pathogenic protein for SCA17, transcription factor).
Core key proteins: ATXN1 (pathogenic protein for SCA1), ATXN2 (pathogenic protein for SCA2), ATXN3 (pathogenic protein for SCA3), ATXN7 (pathogenic protein for SCA7), CACNA1A (pathogenic protein for SCA6, calcium channel subunit), TBP (pathogenic protein for SCA17, transcription factor).
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