Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response

ADP ribosylation is a reversible posttranslational modification mediated by poly(ADP-ribose)transferases (e.g., PARP1) and (ADP-ribosyl)hydrolases (e.g., ARH3 and PARG), ensuring synthesis and removal of mono-ADP-ribose or poly-ADP-ribose chains on protein substrates. Dysregulation of ADP ribosylati...

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Autors principals:	Beijer, D, Agnew, T, Rack, JGM, Prokhorova, E, Deconinck, T, Ceulemans, B, Peric, S, Milic Rasic, V, De Jonghe, P, Ahel, I, Baets, J
Format:	Journal article
Idioma:	English
Publicat:	Life Science Alliance, LLC 2021

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