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@article{1390851,
author = {Gallo, Angela and Vukić, Dragana and Michalík, David and O'Connell, Mary and Keegan, Liam},
article_location = {NEW YORK},
article_number = {9},
doi = {http://dx.doi.org/10.1007/s00439-017-1837-0},
keywords = {AICARDI-GOUTIERES SYNDROME; SEROTONIN 2C RECEPTOR; Z-ALPHA DOMAIN; SQUAMOUS-CELL CARCINOMA; DSRNA-BINDING DOMAIN; HANDED Z-DNA; ADENOSINE-DEAMINASE; MESSENGER-RNA; ENZYME ADAR1; GLUR-B},
language = {eng},
issn = {0340-6717},
journal = {Human Genetics},
title = {ADAR RNA editing in human disease; more to it than meets the I},
url = {https://link.springer.com/article/10.1007%2Fs00439-017-1837-0},
volume = {136},
year = {2017}
}
TY - JOUR
ID - 1390851
AU - Gallo, Angela - Vukić, Dragana - Michalík, David - O'Connell, Mary - Keegan, Liam
PY - 2017
TI - ADAR RNA editing in human disease; more to it than meets the I
JF - Human Genetics
VL - 136
IS - 9
SP - 1265-1278
EP - 1265-1278
PB - SPRINGER
SN - 03406717
KW - AICARDI-GOUTIERES SYNDROME
KW - SEROTONIN 2C RECEPTOR
KW - Z-ALPHA DOMAIN
KW - SQUAMOUS-CELL CARCINOMA
KW - DSRNA-BINDING DOMAIN
KW - HANDED Z-DNA
KW - ADENOSINE-DEAMINASE
KW - MESSENGER-RNA
KW - ENZYME ADAR1
KW - GLUR-B
UR - https://link.springer.com/article/10.1007%2Fs00439-017-1837-0
L2 - https://link.springer.com/article/10.1007%2Fs00439-017-1837-0
N2 - We review the structures and functions of ADARs and their involvements in human diseases. ADAR1 is widely expressed, particularly in the myeloid component of the blood system, and plays a prominent role in promiscuous editing of long dsRNA. Missense mutations that change ADAR1 residues and reduce RNA editing activity cause Aicardi-GoutiSres Syndrome, a childhood encephalitis and interferonopathy that mimics viral infection and resembles an extreme form of Systemic Lupus Erythmatosus (SLE). In Adar1 mouse mutant models aberrant interferon expression is prevented by eliminating interferon activation signaling from cytoplasmic dsRNA sensors, indicating that unedited cytoplasmic dsRNA drives the immune induction. On the other hand, upregulation of ADAR1 with widespread promiscuous RNA editing is a prominent feature of many cancers and particular site-specific RNA editing events are also affected. ADAR2 is most highly expressed in brain and is primarily required for site-specific editing of CNS transcripts; recent findings indicate that ADAR2 editing is regulated by neuronal excitation for synaptic scaling of glutamate receptors. ADAR2 is also linked to the circadian clock and to sleep. Mutations in ADAR2 could contribute to excitability syndromes such as epilepsy, to seizures, to diseases involving neuronal plasticity defects, such as autism and Fragile-X Syndrome, to neurodegenerations such as ALS, or to astrocytomas or glioblastomas in which reduced ADAR2 activity is required for oncogenic cell behavior. The range of human disease associated with ADAR1 mutations may extend further to include other inflammatory conditions while ADAR2 mutations may affect psychiatric conditions.
ER -
GALLO, Angela, Dragana VUKI$\backslash$'C, David MICHALÍK, Mary O'CONNELL a Liam KEEGAN. ADAR RNA editing in human disease; more to it than meets the I. \textit{Human Genetics}. NEW YORK: SPRINGER, 2017, roč.~136, č.~9, s.~1265-1278. ISSN~0340-6717. Dostupné z: https://dx.doi.org/10.1007/s00439-017-1837-0.
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