Results 61 to 70 of about 431,100 (179)

Substrate specificity of the pseudouridine synthase RluD in Escherichia coli [PDF]

The FEBS Journal, 2007
Pseudouridine synthase RluD converts uridines at positions 1911, 1915, and 1917 of 23S rRNA to pseudouridines. These nucleotides are located in the functionally important helix‐loop 69 of 23S rRNA. RluD is the only pseudouridine synthase that is required for normal growth in Escherichia coli.
Margus, Leppik, Lauri, Peil, Kalle, Kipper, Aivar, Liiv, Jaanus, Remme   +4 more
openaire   +2 more sources

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, Volume 110, Issue 3, Page 379-388, September 2026.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Tahsin Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source

Implications of RNA pseudouridylation for cancer biology and therapeutics: a narrative review

Journal of Translational Medicine
Background Pseudouridine (Ψ), a C5-glycoside isomer of uridine, stands as one of the most prevalent RNA modifications in all RNA types. Distinguishing from the C-N bond linking uridine to ribose, the link between Ψ and ribose is a C-C bond, endowing Ψ ...
Hanyi Ding, Na Liu, Yan Wang, Sofia Abdulkadir Adam, Jie Jin, Weiying Feng, Jie Sun   +6 more
doaj   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

The Crystal Structure of E. coli rRNA Pseudouridine Synthase RluE [PDF]

Journal of Molecular Biology, 2007
Pseudouridine synthase RluE modifies U2457 in a stem of 23 S RNA in Escherichia coli. This modification is located in the peptidyl transferase center of the ribosome. We determined the crystal structures of the C-terminal, catalytic domain of E. coli RluE at 1.2 A resolution and of full-length RluE at 1.6 A resolution.
Hu, Pan, Joseph D, Ho, Robert M, Stroud, Janet, Finer-Moore   +3 more
openaire   +2 more sources

Comparative study of two box H/ACA ribonucleoprotein pseudouridine-synthases: relation between conformational dynamics of the guide RNA, enzyme assembly and activity. [PDF]

PLoS ONE, 2013
Multiple RNA-guided pseudouridine synthases, H/ACA ribonucleoprotein particles (RNPs) which contain a guide RNA and four proteins, catalyze site-specific post-transcriptional isomerization of uridines into pseudouridines in substrate RNAs.
Jean-Baptiste Fourmann, Anne-Sophie Tillault, Magali Blaud, Fabrice Leclerc, Christiane Branlant, Bruno Charpentier   +5 more
doaj   +1 more source

Genetics of Celiac Disease in Southern Brazil: High‐Resolution HLA Haplotypes and Non‐HLA Polymorphisms

HLA, Volume 108, Issue 3, September 2026.
ABSTRACT Celiac disease (CeD) is an autoimmune enteropathy triggered by gluten ingestion in genetically predisposed individuals, who frequently present HLA‐DQ2 or HLA‐DQ8 haplotypes. To examine the genetic architecture of CeD in the admixed South Brazilian population, we sequenced the HLA alleles to high resolution and genotyped 16 non‐HLA ...
Fernanda Vitório da Silva, Valéria Bumiller‐Bini Hoch, Eduardo Delabio Auer, Priscila Ianzen dos Santos, Noah Cline, Luana Caroline Oliveira, Jennifer Elisabeth Hundt, Michael Wittig, Andre Franke, Paul J. Norman, Angelica Beate Winter Boldt   +10 more
wiley   +1 more source

The pseudouridine synthase RluD is required for normal ribosome assembly and function in Escherichia coli

, 2005
RluD is the pseudouridine synthase responsible for the formation of Ψ1911, Ψ1915, and Ψ1917 in Escherichia coli 23S rRNA. Previous work from our laboratory demonstrated that disruption of the rluD gene and/or loss of the pseudouridine residues for which ...
OFENGAND, JAMES, GUTGSELL, NANCY S, DEUTSCHER, MURRAY P   +2 more
core   +1 more source

Dual Inhibition of DKC1 and MEK1/2 Synergistically Restrains the Growth of Colorectal Cancer Cells

Advanced Science, 2021
Colorectal cancer, one of the most commonly diagnosed cancers worldwide, is often accompanied by uncontrolled proliferation of tumor cells. Dyskerin pseudouridine synthase 1 (DKC1), screened using the genome‐wide RNAi strategy, is a previously ...
Guangyan Kan, Ziyang Wang, Chunjie Sheng, Gong Chen, Chen Yao, Yizhi Mao, Shuai Chen   +6 more
doaj   +1 more source

GK PUA Domain Modulates Cables, Cooperativity, and Proline Feedback

Aggregate, Volume 7, Issue 8, August 2026.
EcGK tetramers hierarchically assemble into metabolic filaments and bundle into metabolic cables. Upon substrate binding, this dynamic equilibrium shifts from inactive cables to active tetramers to drive catalysis; meanwhile the inhibitor proline stabilizes an X‐shaped conformation, redirecting assembly toward filaments to enable efficient feedback ...
Tianyi Zhang, Qingqing Leng, Siran Li, Huan‐Huan Hu, Ji‐Long Liu   +4 more
wiley   +1 more source