Results 11 to 20 of about 2,533,373 (163)

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome [PDF]

Folia Neuropathologica, 2016
Pathogenic molecular variants in the ADAR gene are a known cause of rare diseases, autosomal recessive Aicardi- Goutières syndrome type 6, severe infantile encephalopathy with intracranial calcifications and dominant dyschromatosis symmetrica hereditaria,
Dorota Piekutowska-Abramczuk, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Elżbieta Ciara, Joanna Trubicka, Maciej Pronicki, Dariusz Rokicki, Małgorzata Rydzanicz, Rafał Płoski, Ewa Pronicka   +9 more
doaj   +2 more sources

Characterising new roles for APOBEC4 and ADAR deaminases [PDF]

, 2010
Deamination or the hydrolytic removal of one hydroxyl group from a base in DNA or RNA can lead to changes in the transcript and protein produced. Examples of this are the deamination of cytosine residues in DNA by activation induced deaminase (AID ...
Hogg, Marion
core   +4 more sources

Programmable RNA editing with endogenous ADAR enzymes – a feasible option for the treatment of inherited retinal disease?

Frontiers in Molecular Neuroscience, 2023
RNA editing holds great promise for the therapeutic correction of pathogenic, single nucleotide variants (SNV) in the human transcriptome since it does not risk creating permanent off-targets edits in the genome and has the potential for innovative ...
Julia-Sophia Bellingrath, Michelle E. McClements, M. Dominik Fischer, M. Dominik Fischer, Robert E. MacLaren, Robert E. MacLaren   +5 more
doaj   +1 more source

Physiological roles of Drosophila ADAR and modifiers [PDF]

, 2013
ADAR (Adenosine Deaminases acting on RNA) family proteins are double-strand RNA binding proteins that deaminate specific adenosines into inosines. This A-to-I conversion is called A-to-I RNA editing and is well conserved in the animal kingdom from ...
Li, Xianghua
core   +3 more sources

Membrane and synaptic defects leading to neurodegeneration in Adar mutant Drosophila are rescued by increased autophagy

BMC Biology, 2020
Background In fly brains, the Drosophila Adar (adenosine deaminase acting on RNA) enzyme edits hundreds of transcripts to generate edited isoforms of encoded proteins.
Anzer Khan, Simona Paro, Leeanne McGurk, Nagraj Sambrani, Marion C. Hogg, James Brindle, Giuseppa Pennetta, Liam P. Keegan, Mary A. O’Connell   +8 more
doaj   +1 more source

Utilizing AAV-mediated LEAPER 2.0 for programmable RNA editing in non-human primates and nonsense mutation correction in humanized Hurler syndrome mice

Genome Biology, 2023
Background The endogenous adenosine deaminases acting on RNA (ADAR) have been harnessed to facilitate precise adenosine-to-inosine editing on RNAs.
Zongyi Yi, Yanxia Zhao, Zexuan Yi, Yongjian Zhang, Gangbin Tang, Xiaoxue Zhang, Huixian Tang, Wei Zhang, Ying Zhao, Huayuan Xu, Yuyang Nie, Xueqing Sun, Lijun Xing, Lian Dai, Pengfei Yuan, Wensheng Wei   +15 more
doaj   +1 more source

Targeting ADAR stability: a novel approach to combat glioblastoma. [PDF]

Front Oncol
Background Adenine deaminase (ADAR) is a key RNA editing enzyme that plays an important role in the initiation and progression of cancer.
Fei Q, Huang J, Zhang Y, He Y, Fu Q.
europepmc   +2 more sources

The C. elegans neural editome reveals an ADAR target mRNA required for proper chemotaxis

eLife, 2017
ADAR proteins alter gene expression both by catalyzing adenosine (A) to inosine (I) RNA editing and binding to regulatory elements in target RNAs. Loss of ADARs affects neuronal function in all animals studied to date.
Sarah N Deffit, Brian A Yee, Aidan C Manning, Suba Rajendren, Pranathi Vadlamani, Emily C Wheeler, Alain Domissy, Michael C Washburn, Gene W Yeo, Heather A Hundley   +9 more
doaj   +1 more source

An AGS-associated mutation in ADAR1 catalytic domain results in early-onset and MDA5-dependent encephalopathy with IFN pathway activation in the brain

Journal of Neuroinflammation, 2022
Background Aicardi–Goutières syndrome (AGS) is a severe neurodegenerative disease with clinical features of early-onset encephalopathy and progressive loss of intellectual abilities and motor control.
Xinfeng Guo, Richard A. Steinman, Yi Sheng, Guodong Cao, Clayton A. Wiley, Qingde Wang   +5 more
doaj   +1 more source

Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China

Molecular Genetics & Genomic Medicine, 2019
Background Dyschromatosis symmetrica hereditaria (DSH;OMIM: #127400) is a rare autosomal dominant skin disease of hyperpigmented and hypopigmented macules on the dorsal aspects of the feet and hands.
Peng Wang, Shirong Yu, Jianyong Liu, Dezhi Zhang, Xiaojing Kang   +4 more
doaj   +1 more source