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Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.

Martin S, Smolders S, Van den Haute C, Heeman B, van Veen S, Crosiers D, Beletchi I, Verstraeten A, Gossye H, Gelders G, Pals P, Hamouda NN, Engelborghs S, Martin JJ, Eggermont J, De Deyn PP, Cras P, Baekelandt V, Vangheluwe P, Van Broeckhoven C
Acta Neuropathol. 2020 Jun;139(6):1001-1024. doi: 10.1007/s00401-020-02145-7. Epub 2020 Mar 14. (Link opens in a new window) PubMed (Link opens in a new window) Article

Plasmids from Article

ID Plasmid Purpose
203694pcDNA3_CDC50Aexpresses CDC50A
203695pcDNA3_ATP10Bexpresses ATP10B
203696pcDNA3_ATP10B-D433Nexpresses ATP10B with the catalytic mutation D433N
203697pcDNA3_ATP10B-E210Aexpresses ATP10B with the catalytic mutation E210A
203698pcDNA3_ATP10B-E993Aexpresses ATP10B with the pathogenic mutation E993A
203699pcDNA3_ATP10B-G671R-N865Kexpresses ATP10B with the pathogenic mutations G671R and N865K
203700pcDNA3_ATP10B-I1038Texpresses ATP10B with the pathogenic mutation I1038T
203701pcDNA3_ATP10B-R153Xexpresses ATP10B with the pathogenic mutation R153X
203702pcDNA3_ATP10B-V748Lexpresses ATP10B with the pathogenic mutation V748L

Antibodies from Article