Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy

Lucia Abela; Lorita Gianfrancesco; Erica Tagliatti; Giada Rossignoli; Katy Barwick; Clara Zourray; Kimberley M Reid; Dimitri Budinger; Joanne Ng; John Counsell; Arlo Simpson; Toni S Pearson; Simon Edvardson; Orly Elpeleg; Frances M Brodsky; Gabriele Lignani; Serena Barral; Manju A Kurian

doi:10.1093/brain/awae020

Figure 5

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Bulk RNA sequencing analysis highlights developmental and synaptic vesicle defects in patient-derived neurons. (A) Heat map showing hierarchical clustering of protein-coding differentially expressed genes (DEGs) in all patients compared to Control 1 (n = 3). (B) Gene Ontology (GO) terms enrichment for biological process of total (black), under-expressed (blue) and over-expressed (red) protein-coding DEGs in patients compared to control. The top 10 or five categories are shown. (C) Heat map showing hierarchical clustering of protein-coding DEGs in Patient 1 compared to CRISPR Patient P1 (n = 3). (D) GO terms enrichment for biological process of total (black), under-expressed (blue) and over-expressed (red) protein-coding DEGs in Patient 1 compared to CRISPR Patient P1. The top 10 or five categories are shown. (E) GO terms enrichment for cellular component of total (black) and under-expressed (blue) protein-coding DEGs in Patient 1 compared to CRISPR Patient P1.