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   Articles with "regulatory subunit" as a keyword



De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

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recommendations! 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)

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recommendations! 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

Protein Phosphatase 1 Regulatory Subunit 3C integrates cholesterol metabolism and isocitrate dehydrogenase in chondrocytes and neoplasia

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recommendations! Published in 2025 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2501519122

Abstract: Significance Enchondromas, common cartilage tumors driven by IDH1/2 mutations, can progress to chondrosarcoma. We identified PPP1R3C as a key regulator linking glycogen and cholesterol metabolism in IDH-mutant chondrocytes. PPP1R3C was shown to modulate the neoplastic… read more here.

Keywords: protein phosphatase; phosphatase regulatory; metabolism; regulatory subunit ... See more keywords

Improvement of valine and isobutanol production in sake yeast by Ala31Thr substitution in the regulatory subunit of acetohydroxy acid synthase.

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recommendations! 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

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

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recommendations! Published in 2024 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddae166

Abstract: Abstract The heterotrimeric protein phosphatase 2A (PP2A) complex catalyzes about half of Ser/Thr dephosphorylations in eukaryotic cells. A CAG repeat expansion in the neuron-specific protein PP2A regulatory subunit PPP2R2B gene causes spinocerebellar ataxia type 12… read more here.

Keywords: mitochondrial dynamics; pp2a regulatory; missense variants; regulatory subunit ... See more keywords

Disseminated Mycoplasma Orale Infection in Patients With Phosphoinositide-3-Kinase Regulatory Subunit 1 Mutations.

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recommendations! 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
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Ribonucleotide reductase regulatory subunit M2 drives glioblastoma TMZ resistance through modulation of dNTP production

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recommendations! 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

Phase separation of a PKA type I regulatory subunit regulates β-cell function through cAMP compartmentalization

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recommendations! Published in 2025 at "PLOS Biology"

DOI: 10.1371/journal.pbio.3003262

Abstract: Cyclic adenosine monophosphate (cAMP), a ubiquitous second messenger, regulates a variety of cellular functions with high specificity. We previously showed that the type I regulatory subunit of cAMP-dependent protein kinase A (PKA), RIα, undergoes liquid–liquid… read more here.

Keywords: type regulatory; phase separation; function; regulatory subunit ... See more keywords