Addgene: Is spastic ataxia 8 a protein misfolding disorder?

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Federico Herrera
Ferreira-Peralta et al

Is spastic ataxia 8 a protein misfolding disorder?
Ferreira-Peralta P, Franca B, Murtinheira F, Rodrigues MS, Herrera F
Biochim Biophys Acta Mol Basis Dis. 2023 Sep 9;1870(1):166882. doi: 10.1016/j.bbadis.2023.166882. PubMed Article

Plasmids from Article

ID	Plasmid	Purpose
203712	pcDNA3.1 NKX6-2-Venus	Constitutive mammaliam expression of human NKX6-2 cDNA fused with the Venus fluorescent protein
203713	pcDNA3.1 NKX6-2(1-40)-Venus	SPAX8-related truncated mutation (K41*) containing the amino acids 1 to 40 of human NKX6-2, fused with the Venus fluorescent protein.
203714	pcDNA3.1 NKX6-2(1-188)-Venus	SPAX8-related truncated mutation (E189*) containing the amino acids 1 to 188 of human NKX6-2 fused with the Venus fluorescent protein
203715	pcDNA3.1 NKX6-2-Venus S246A	human NKX6-2 S246A phosphoresistant mutant
203716	pcDNA3.1 NKX6-2-Venus S246D	human NKX6-2 S246D phosphomimic mutant
203717	pcDNA3.1 NKX6-2-Venus T252A	human NKX6-2 T252A phosphoresistant mutant
203718	pcDNA3.1 NKX6-2-Venus T252D	human NKX6-2 T252D phosphomimic mutant
209178	pcDNA3.1 NKX6-2-Venus L163V	Mammalian expression of SPAX8-related missense mutation (L163V) in human NKX6-2 fused with the Venus fluorescent protein
209179	pcDNA3.1 NKX6-2-Venus R200W	Mammalian expression of SPAX8-related missense mutation (R200W) in human NKX6-2 fused with the Venus fluorescent protein
209180	pcDNA3.1 NKX6-2-Venus S246A/T252A	Mammalian expression of human NKX6-2 T252D phosphoresistant mutant
209181	pcDNA3.1 NKX6-2-Venus Y238F	Mammalian expression of human NKX6-2 T252D phosphoresistant mutant
209182	pcDNA3.1 NKX6-2(1-196)-Venus	Mammalian expression of human NKX6-2 cDNA SPAX8-related truncated mutation containing the amino acids 1 to 196; fused with the green fluorescent protein Venus allowing the use of fluorescent based protocols.

Antibodies from Article