The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1

The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1

Mutations in GBA1 cause Gaucher disease and are the most important genetic risk factor for Parkinson’s disease. However, analysis of transcription at this locus is complicated by its highly homologous pseudogene, GBAP1. We show that >50% of short RNA-sequencing reads mapping to GBA1 also map to G...

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Huvudupphovsmän: Gustavsson, EK, Sethi, S, Gao, Y, Brenton, JW, García-Ruiz, S, Zhang, D, Garza, R, Reynolds, RH, Evans, JR, Chen, Z, Grant-Peters, M, Macpherson, H, Montgomery, K, Dore, R, Wernick, AI, Arber, C, Wray, S, Gandhi, S, Esselborn, J, Blauwendraat, C, Douse, CH, Adami, A, Atacho, DAM, Kouli, A, Quaegebeur, A, Barker, RA, Englund, E, Platt, F, Jakobsson, J, Wood, NW, Houlden, H, Saini, H, Bento, CF, Hardy, J, Ryten, M
Materialtyp: Journal article
Språk:English
Publicerad: American Association for the Advancement of Science 2024

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