Table 2.
Disease-associated expanded proteins interacting with transcriptional regulators.
| Disease | Protein | Transcriptional Interactors |
Dysregulated Genes | References |
|---|---|---|---|---|
| SCA1 | ATXN1 | HDAC3, RORα/TIP60, CIC, LANP, SMRT/NCOR2, HDAC4/MEF2, ATXNL1 (BOAT), GFI-1, 14-3-3, SP1, A1Up, PQBP1, RBM17 | Cerebellar PC-specific | [92,93,94,95,96,97,98,99,100,101,102,103,104,105] |
| SCA2 | ATXN2 | PABP-1, A2BP1/Fox1, DDX6, TDP-43 | Cerebellar GC- and PC-specific (e.g., RORα, Itpr1, Atp2a2, Inpp5a) | [106] |
| MJD/SCA3 | ATXN3 | CBP, PCAF, P300, HDAC3/NCOR, FOXO4, TBP, PML, TAF130, MAML1, SC35, NCoR | Involved in glutamatergic neurotransmission; intracellular calcium signaling; MAP Kinase signaling | [107,108,109,110,111,112,113] |
| SCA6 | CACNA1A | NA | Involved in neurite outgrowth (e.g., TAF, BTG1, PMCA2, GRN) | [91] |
| SCA7 | ATXN7 | GCN5, USP22, CRX, RORα, SIRT1, TBP, KAT2A/GCN5/ATXN7L3 (components of SAGA complex) | Cerebellar PC-specific; involved in morphological and physiological identities of mature photoreceptors |
[114,115] |
| SCA17 | TBP | TFIIB, XBP1, NFY, MYOD, SP1 | Hspb1, Manf, Trka, Mhc4, Mck | [116,117,118,119,120,121,122] |
PC—Purkinje cells; GC—granular cells; NA—not available.