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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Comparison of fibroblasts from ARH3-mutated patients and controls by transcription profiling

ABSTRACT: Mutations in the ARH3 (ADPRHL2) hydrolase that catabolises ADP-ribose are associated with neurodegeneration and ataxia. In our experiments we have found that ARH3-defective cells accumulate mono-(ADP-ribose) scars on histones that may prevent other epigenetic modifications from happening at these sites. Transcriptomic analyses thus could be useful to show whether and how persistence of these marks might translate into the pathogenesis. We have employed primary human fibroblasts (cultured in individual cell lines) from two ARH3-mutated patients (A1, A2), harbouring the homozygous mutations Q334* (A1 & A2/siblings) and two unaffected controls (ARH3 ctrl/father & unrelated 1BR) to run RNA-seq. Due to the sensitive nature of the data, raw data files have not been uploaded.

INSTRUMENT(S): NextSeq 500

ORGANISM(S): Homo sapiens

SUBMITTER: Jan Kubovčiak

PROVIDER: E-MTAB-8391 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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