De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Baranano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabinska KA, Leuzzi V
Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. PubMed Article

Plasmids from Article

ID	Plasmid	Purpose
203176	pTL	Centromeric yeast expression vector, leucine selection
203177	pTL-DHDDS	Centromeric yeast expression vector for hDHDDS