DNA Hydroxymethylation in Non-coding Repeat Expansion Disorders

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ISBN-13:
9783330653122
Einband:
Paperback
Erscheinungsdatum:
08.07.2017
Seiten:
132
Autor:
Rustam Esanov
Gewicht:
213 g
Format:
220x150x8 mm
Sprache:
Englisch
Beschreibung:

My research is focused on the repeat expansion disorders, a family of disorders that result from the repetitive microsatellite sequence within the gene. In particular, this thesis investigates two non-coding repeat expansion disorders: C9orf72-associated Amyotrophic Lateral Sclerosis (C9-ALS) and the Fragile X Syndrome (FXS). Our group was the first to report the presence of 5-hydroxymethylcytosine, a novel epigenetic mark and active DNA demethylation intermediate, at the expanded loci of patients with C9-ALS and FXS.