Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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The effect of nicotinamide on dysregulated genes associated with frataxin deficiency in FRDA.


ABSTRACT: To investigate the efficacy of nicotinamide treatment using our ex-vivo primary lymphocyte model, we performed high-throughput RNA sequencing on libraries generated from untreated and nicotinamide treated samples. PBMC isolated from FRDA affected individuals were cultured to prepare the primary lymphocyte cell lines. The primary cultured cells were either treated with 10mM nicotinamide or without the addition of drug during the 3-days treatment. RNA was extracted after the treatment and then RNA-seq libraries were generated by standard protocols.

ORGANISM(S): Homo sapiens

SUBMITTER: sanjay khadayate 

PROVIDER: E-GEOD-42960 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.

Chan Ping K PK   Torres Raul R   Yandim Cihangir C   Law Pui P PP   Khadayate Sanjay S   Mauri Marta M   Grosan Crina C   Chapman-Rothe Nadine N   Giunti Paola P   Pook Mark M   Festenstein Richard R  

Human molecular genetics 20130307 13


Large intronic expansions of the triplet-repeat sequence (GAA.TTC) cause transcriptional repression of the Frataxin gene (FXN) leading to Friedreich's ataxia (FRDA). We previously found that GAA-triplet expansions stimulate heterochromatinization in vivo in transgenic mice. We report here using chromosome conformation capture (3C) coupled with high-throughput sequencing that the GAA-repeat expansion in FRDA cells stimulates a higher-order structure as a fragment containing the GAA-repeat expansi  ...[more]

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