Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3

Autor: Wang Li, Zhongliang Li, Junhui Fu, Kaili Xu, Daoqi Mei, Xiaona Wang, Taisong Li, Xilong Du

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

IntroductionActivating Signal Cointegrator 1 Complex, Subunit 3 (ASCC3) has been implicated in the pathogenesis of neurodevelopmental disorders and neuromuscular diseases (MIM: 620700). This paper analyzes the clinical manifestations of three patient

Externí odkaz: https://doaj.org/article/4f9f87bff42d40fc87d825cb9f1ec5d1

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

Autor: Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj

Publikováno v: HGG Advances, Vol 2, Iss 2, Pp 100024- (2021)

Summary: Activating Signal Cointegrator 1 Complex, Subunit 3 (ASCC3) is part of the four-part ASC-1 transcriptional cointegrator complex. This complex includes ASCC1 (associated with spinal muscular atrophy with congenital bone fractures 2), TRIP4 (a

Externí odkaz: https://doaj.org/article/cb443ab29c294cd38ee393efc5038a34

ALKBH3 partner ASCC3 mediates P-body formation and selective clearance of MMS-induced 1-methyladenosine and 3-methylcytosine from mRNA

Autor: Per Arne Aas, Renana Rabe, Vuk Palibrk, Geir Slupphaug, Kristian Lied Wollen, Lars Hagen, Davi de Miranda Fonseca, Hilde O. Erlandsen, Animesh Sharma, Cathrine Broberg Vågbø, Tobias S. Iveland, Magnar Bjørås, Bjørnar Sporsheim, Nima Mosammaparast

Publikováno v: Journal of Translational Medicine
Journal of Translational Medicine, Vol 19, Iss 1, Pp 1-22 (2021)

Background Reversible enzymatic methylation of mammalian mRNA is widespread and serves crucial regulatory functions, but little is known to what degree chemical alkylators mediate overlapping modifications and whether cells distinguish aberrant from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a351288d619b9c508c616f5afeae8822
http://europepmc.org/articles/PMC8254245

Translation stress and collided ribosomes are co-activators of cGAS

Autor: Daniel Blears, Jesper Q. Svejstrup, Li Wan, Prashanth Kumar Bajpe, Richard Mitter, Zhong Han, Szymon Juszkiewicz, Ambrosius P. Snijders, Ramanujan S. Hegde, Aengus Stewart, Peter Faull

Publikováno v: Wan, L, Juszkiewicz, S, Blears, D, Bajpe, P K, Han, Z, Faull, P, Mitter, R, Stewart, A, Snijders, A P, Hegde, R S & Svejstrup, J Q 2021, ' Translation stress and collided ribosomes are co-activators of cGAS ', Molecular Cell, vol. 81, no. 13, pp. 2808-2822.e10 . https://doi.org/10.1016/j.molcel.2021.05.018
Molecular Cell

Summary The cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) pathway senses cytosolic DNA and induces interferon-stimulated genes (ISGs) to activate the innate immune system. Here, we report the unexpected discovery that cGAS also

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ebc25fca505ff1b508f17c4e737ebbf
https://curis.ku.dk/ws/files/275822782/1_s2.0_S1097276521004020_main.pdf

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