De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.03.003
Abstract: HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad,… read more here.
Keywords: novo disruption; disruption proteasome; subunit psmd12; proteasome regulatory ... See more keywords
Mouse Rif1 is a regulatory subunit of protein phosphatase 1 (PP1)
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-01910-1
Abstract: Rif1 is a conserved protein that plays essential roles in orchestrating DNA replication timing, controlling nuclear architecture, telomere length and DNA repair. However, the relationship between these different roles, as well as the molecular basis… read more here.
Keywords: protein; rif1; pp1; mouse rif1 ... See more keywords
Improvement of valine and isobutanol production in sake yeast by Ala31Thr substitution in the regulatory subunit of acetohydroxy acid synthase.
Sign Up to like & getrecommendations! Published in 2023 at "FEMS yeast research"
DOI: 10.1093/femsyr/foad012
Abstract: The fruit-like aroma of two valine-derived volatiles, isobutanol and isobutyl acetate, has great impact on the flavor and taste of alcoholic beverages, including sake, a traditional Japanese alcoholic beverage. With the growing worldwide interest in… read more here.
Keywords: acid synthase; sake; regulatory subunit; valine ... See more keywords
Disseminated Mycoplasma Orale Infection in Patients With Phosphoinositide-3-Kinase Regulatory Subunit 1 Mutations.
Sign Up to like & getrecommendations! Published in 2022 at "Open forum infectious diseases"
DOI: 10.1093/ofid/ofac472
Abstract: Mycoplasma orale is a rare cause of invasive infection in immunodeficient hosts. Phosphatidylinositol 3-kinase, regulatory subunit 1 (PI3KR1) mutations predispose patients to sinopulmonary infections, alongside bronchiectasis autoimmunity and lymphoproliferation. We report 2 cases of PI3KR1… read more here.
Keywords: infection; kinase regulatory; disseminated mycoplasma; regulatory subunit ... See more keywords
Ribonucleotide reductase regulatory subunit M2 drives glioblastoma TMZ resistance through modulation of dNTP production
Sign Up to like & getrecommendations! Published in 2023 at "Science Advances"
DOI: 10.1126/sciadv.ade7236
Abstract: During therapy, adaptations driven by cellular plasticity are partly responsible for driving the inevitable recurrence of glioblastoma (GBM). To investigate plasticity-induced adaptation during standard-of-care chemotherapy temozolomide (TMZ), we performed in vivo single-cell RNA sequencing in… read more here.
Keywords: reductase regulatory; therapy; regulatory subunit; production ... See more keywords