Article
Oncology
Guangxi Sun, Xingming Zhang, Jiayu Liang, Xiuyi Pan, Sha Zhu, Zhenhua Liu, Cameron M. Armstrong, Jianhui Chen, Wei Lin, Banghua Liao, Tianhai Lin, Rui Huang, Mengni Zhang, Linmao Zheng, Xiaoxue Yin, Ling Nie, Pengfei Shen, Jinge Zhao, Haoran Zhang, Jindong Dai, Yali Shen, Zhiping Li, Jiyan Liu, Junru Chen, Jiandong Liu, Zhipeng Wang, Xudong Zhu, Yuchao Ni, Dan Qin, Ling Yang, Yuntian Chen, Qiang Wei, Xiang Li, Qiao Zhou, Haojie Huang, Jin Yao, Ni Chen, Hao Zeng
Summary: This study conducted integrated genomic, epigenomic, and molecular analyses on 25 untreated primary FH-deficient RCCs, revealing low somatic mutation burden, frequent somatic copy-number alterations, and a CpG sites island methylator phenotype in these tumors. Clinical data showed that patients treated with immune checkpoint blockade-based therapy had significantly longer progression-free survival compared to those receiving antiangiogenic monotherapy.
CLINICAL CANCER RESEARCH
(2021)
Article
Multidisciplinary Sciences
Alexander Hooftman, Christian G. Peace, Dylan G. Ryan, Emily A. Day, Ming Yang, Anne F. McGettrick, Maureen Yin, Erica N. Montano, Lihong Huo, Juliana E. Toller-Kawahisa, Vincent Zecchini, Tristram A. J. Ryan, Alfonso Bolado-Carrancio, Alva M. Casey, Hiran A. Prag, Ana S. H. Costa, Gabriela de los Santos, Mariko Ishimori, Daniel J. Wallace, Swamy Venuturupalli, Efterpi Nikitopoulou, Norma Frizzell, Cecilia Johansson, Alexander Von Kriegsheim, Michael P. Murphy, Caroline Jefferies, Christian Frezza, Luke A. J. O'Neill
Summary: Metabolic rewiring through an inflammatory aspartate-argininosuccinate shunt induces fumarate-mediated protein succination and inflammatory effects in macrophages. Inhibition of fumarate hydratase (FH) increases fumarate levels, suppresses mitochondrial respiration, and enhances interferon responses. FH inhibition may play a pathogenic role in systemic lupus erythematosus. These findings highlight the importance of FH in regulating macrophage functions and cytokine responses.
Article
Endocrinology & Metabolism
Leo-Paul Bancel, Vincent Masso, Anne-Frederique Dessein, Sebastien Aubert, Emmanuelle Leteurtre, Lucie Coppin, Marie-Francoise Odou, Christine Do Cao, Catherine Cardot-Bauters, Pascal Pigny
Summary: This study aimed to evaluate the role of measuring serum succinate and fumarate levels, as well as the succinate/fumarate ratio, in detecting pathogenic variants in SDHx genes in PPGL patients. The results showed that the succinate/fumarate ratio had a better discriminative power in identifying patients with SDHx pathogenic variants compared to succinate and fumarate levels alone. However, these biochemical markers were less effective in identifying SDHD gene mutations.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Chemistry, Multidisciplinary
Mika Takeuchi, Yutaka Amao
Summary: In this study, fumarate was successfully synthesized using a biocatalytic method in an aqueous medium. Malate and fumarase enzymes were used as catalysts, and the reaction was carried out using carbon dioxide and pyruvate as intermediates.
REACTION CHEMISTRY & ENGINEERING
(2022)
Article
Multidisciplinary Sciences
Jessica B. Spinelli, Paul C. Rosen, Hans-Georg Sprenger, Anna M. Puszynska, Jessica L. Mann, Julian M. Roessler, Andrew L. Cangelosi, Antonia Henne, Kendall J. Condon, Tong Zhang, Tenzin Kunchok, Caroline A. Lewis, Navdeep S. Chandel, David M. Sabatini
Summary: Research has shown that cells can deposit electrons into the mitochondrial electron transport chain through alternative pathways when oxygen reduction is impeded, with the succinate dehydrogenase complex playing a crucial role in the process. By reversing the succinate dehydrogenase complex, mitochondrial functions are maintained even under conditions of inhibited oxygen reduction.
Article
Medicine, General & Internal
Yan Huang, Yan Zhou, Xing Chen, Qin Fang, Huiran Cai, Manxin Xie, Yan Xing
Summary: This case report describes a woman with multiple uterine leiomyomas diagnosed with FH deficiency. The patient underwent successful transabdominal hysterectomy and had no complications on follow-up. It is important for gynecologists to be aware that early onset uterine leiomyoma may be associated with FH deficiency, presenting as large, multiple, and symptomatic lesions.
Article
Clinical Neurology
Thomas W. Lategan, Laurene Wang, Tiffany N. Sprague, Franck S. Rousseau
Summary: The study confirmed the bioequivalence between two Bafiertam(TM) capsules and one Tecfidera(R) capsule, both of which were found to be safe and generally well tolerated.
Article
Chemistry, Organic
Ajay Sharma, Satyendra Kumar Pandey
Summary: An efficient and concise organocatalyzed protecting-group free synthetic approach is described for synthesizing the stereoisomers of the antidepressant drug reboxetine. The synthesis involves organocatalytic Jorgensen asymmetric epoxidation, epoxide migration, and Mitsunobu inversion as key steps.
JOURNAL OF ORGANIC CHEMISTRY
(2022)
Article
Chemistry, Applied
Levente Kiss, Alexandra Pop, Sergiu Shova, Ciprian I. Rat, Cristian Silvestru
Summary: In this study, novel organomercury(II) compounds were synthesized through a series of reactions, with the key step being the synthesis of ethanal groups with different functionalities. The molecular structures of some compounds were determined by single-crystal X-ray diffraction.
APPLIED ORGANOMETALLIC CHEMISTRY
(2021)
Article
Engineering, Environmental
Wenjuan Zhang, Yue Gao, Cheng Chen, Aijing Li, Xuerui Ma, Yong Liang, Xinglei Yao, Maoyong Song, Guibin Jiang
Summary: The study demonstrates that BPS is more likely than BPA to induce visceral fat formation in mice and may cause various metabolic disorders, with succinate potentially playing a key role in inhibiting BPS-induced visceral obesity.
ENVIRONMENTAL SCIENCE & TECHNOLOGY LETTERS
(2021)
Article
Computer Science, Interdisciplinary Applications
Ricardo Perez-Castillo, Manuel A. Serrano, Mario Piattini
Summary: Quantum Computing is revolutionizing engineering fields and attracting increasing investments. A proposed software modernization approach aims to restructure classical systems to work in conjunction with quantum systems, providing environments that combine both computational paradigms. This systematic method, based on existing software engineering standards, ensures feasibility in the ever-changing quantum industry and economic benefits through knowledge reuse and accelerated project development.
ADVANCES IN ENGINEERING SOFTWARE
(2021)
Review
Medicine, Research & Experimental
Menggang Zhang, Xiao Yu, Qiyao Zhang, Zongzong Sun, Yuting He, Wenzhi Guo
Summary: Long non-coding RNAs have important roles in tumor occurrence and progression, with MIR4435-2HG being crucial in various types of cancers. This review summarizes recent research findings on the expression, functions, mechanism, and clinical value of MIR4435-2HG in cancer, serving as a reference for further research and clinical trials related to MIR4435-2HG.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Article
Chemistry, Inorganic & Nuclear
Tomoaki Tanase, Kanako Nakamae, Suzui Hayashi, Ayumi Okue, Risa Otaki, Tomoko Nishida, Yasuyuki Ura, Yasutaka Kitagawa, Takayuki Nakajima
Summary: Binuclear Pd(II) and Pt(II) complexes supported by rac-dpmppm were synthesized with isocyanide ligands, leading to the formation of tetranuclear complexes. Optical resolution of rac-dpmppm was achieved, and chiral octapalladium chains were synthesized and characterized, representing the longest enantiopure chiral single-metal-atom chains structurally characterized to date.
INORGANIC CHEMISTRY
(2021)
Article
Immunology
Tae Seok Oh, Damian C. Hutchins, Rabina Mainali, Kevin H. Goslen, Matthew A. Quinn
Summary: Itaconate, a metabolite in the Krebs cycle, has gained attention for its anti-inflammatory effects. However, its impact on muscle differentiation is not well understood. This study found that itaconate and its derivatives disrupt muscle differentiation in vitro and in vivo, potentially by inhibiting specific enzymes and accumulating certain metabolites.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Chemistry, Analytical
Marija Rasevic, Andelija Malenovic, Ana Protic, Mira Zecevic
Summary: A method for enantiomeric purity testing of moxifloxacin hydrochloride was developed and validated using cyclodextrin type Chiral Stationary Phase (CSP), phenylcarbamate-β-cyclodextrin CSP, and a mobile phase consisting of acetonitrile and triethylammonium acetate (TEAA) buffer. The method development utilized Analytical Quality by Design (AQbD) methodology and involved the selection and investigation of Critical Method Parameters (CMPs) using risk assessment approaches. The proposed enantioselective method was successfully validated and evaluated for its robustness and suitability.
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS
(2023)
Article
Biochemistry & Molecular Biology
Srinivas Kumar Ponna, Salla Ruskamo, Matti Myllykoski, Corinna Keller, Tobias M. Boeckers, Petri Kursula
JOURNAL OF NEUROCHEMISTRY
(2018)
Article
Biochemistry & Molecular Biology
Matti Myllykoski, Maria A. Eichel, Ramona B. Jung, Sorge Kelm, Hauke B. Werner, Petri Kursula
JOURNAL OF NEUROCHEMISTRY
(2018)
Article
Multidisciplinary Sciences
Matti Myllykoski, Petri Kursula
Article
Multidisciplinary Sciences
Abhishek A. Chakraborty, Tuomas Laukka, Matti Myllykoski, Alison E. Ringel, Matthew A. Booker, Michael Y. Tolstorukov, Yuzhong Jeff Meng, Samuel R. Meier, Rebecca B. Jennings, Amanda L. Creech, Zachary T. Herbert, Samuel K. McBrayer, Benjamin A. Olenchock, Jacob D. Jaffe, Marcia C. Haigis, Rameen Beroukhim, Sabina Signoretti, Peppi Koivunen, William G. Kaelin
Article
Multidisciplinary Sciences
Arne Raasakka, Salla Ruskamo, Julia Kowal, Huijong Han, Anne Baumann, Matti Myllykoski, Anna Fasano, Rocco Rossano, Paolo Riccio, Jochen Buerck, Anne S. Ulrich, Henning Stahlberg, Petri Kursula
SCIENTIFIC REPORTS
(2019)
Article
Genetics & Heredity
Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, Paivi Vieira, Naemeh Nayebzadeh, Simone Weiss, Astrid S. Plomp, Reginald E. Bittner, Mitja I. Kurki, Outi Kuismin, Andrea M. Lewis, Marja-Leena Vaisanen, Hannaleena Kokkonen, Jonne Westermann, Gunther Bernert, Hannu Tuominen, Aarno Palotie, Lauri Aaltonen, Yaping Yang, Lorraine Potocki, Jukka Moilanen, Silvana van Koningsbruggen, Xia Wang, Wolfgang M. Schmidt, Peppi Koivunen, Johanna Uusimaa
GENETICS IN MEDICINE
(2019)
Article
Genetics & Heredity
Minna Kraatari-Tiri, Leila Soikkonen, Matti Myllykoski, Yalda Jamshidi, Ehsan G. Karimiani, Jonna Komulainen-Ebrahim, Hanna Kallankari, Cyril Mignot, Christel Depienne, Boris Keren, Marie-Christine Nougues, Zahra Alsahlawi, Antonio Romito, Javier Martini, Mehran B. Toosi, Christopher J. Carroll, Kornelia Tripolszki, Peter Bauer, Johanna Uusimaa, Aida M. Bertoli-Avella, Peppi Koivunen, Elisa Rahikkala
Summary: HIDEA syndrome is a genetic disorder caused by pathogenic variants in the P4HTM gene. It is characterized by muscular and central hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, eye abnormalities, and increased respiratory distress during pneumonia. This study reports six new patients with HIDEA syndrome and expands knowledge of the genetic and phenotypic spectrum of the disease through clinical data analysis and characterization of P4HTM pathogenic variants.
Article
Oncology
Kathryn Gunn, Matti Myllykoski, John Z. Cao, Manna Ahmed, Bofu Huang, Betty Rouaisnel, Bill H. Diplass, Michael M. Levitt, Ryan Looper, John G. Doench, Keith L. Ligon, Harley I. Kornblum, Samuel K. McBrayers, Hai Yan, Cihangir Duy, Lucy A. Godley, Peppi Koivunen, Julie-Aurore Losman
Summary: Oncogenic mutations in IDH1 and IDH2 are commonly found in various cancers, including AML and glioma. The mutant IDH enzymes produce (R)-2HG, which is believed to promote cellular transformation by disrupting 2OG-dependent enzymes. This study reveals that (R)-2HG inhibits KDM5 histone lysine demethylases, contributing to cellular transformation in IDH-mutant AML and glioma.
Article
Hematology
Marine Delamare, Amandine Le Roy, Mathilde Pacault, Loic Schmitt, Celine Garrec, Nada Maaziz, Matti Myllykoski, Antoine Rimbert, Valena Karaghiannis, Bernard Aral, Mark Catherwood, Fabrice Airaud, Lamisse Mansour-Hendili, David Hoogewijs, Edoardo Peroni, Salam Idriss, Valentine Lesieur, Amandine Caillaud, Karim Si-Tayeb, Caroline Chariau, Anne Gaignerie, Minke Rab, Torsten Haferlach, Manja Meggendorfer, Stephane Bezieau, Andrea Benetti, Nicole Casadevall, Pierre Hirsch, Christian Rose, Mathieu Wemeau, Frederic Galacteros, Bruno Cassinat, Beatriz Bellosillo, Celeste Bento, Richard van Wijk, Petro E. Petrides, Maria Luigia Randi, Mary Frances McMullin, Peppi Koivunen, Francois Girodon, Betty Gardie
Summary: This study describes the research conducted on patients with hereditary erythrocytosis and identifies gene mutations associated with the disease. Through various research methods, the pathogenicity of these mutations in the disease was determined. The collaboration of multiple laboratories in the research is crucial for the genetic classification of hereditary hematologic diseases.
Article
Biochemistry & Molecular Biology
Matti Myllykoski, Aleksi Sutinen, M. Kristian Koski, Juha P. Kallio, Arne Raasakka, Johanna Myllyharju, Rik K. Wierenga, Peppi Koivunen
Summary: Prolyl 4-hydroxylases (P4Hs) catalyze post-translational hydroxylation of peptidyl proline residues. In addition to collagen P4Hs and hypoxia-inducible factor P4Hs, a third P4H, the poorly characterized endoplasmic reticulum-localized transmembrane prolyl 4-hydroxylase (P4H-TM), is found in animals. Structural and functional analysis of soluble human P4H-TM revealed an EF domain with two Ca2+-binding motifs that may be relevant to the catalytic activity. The HIDEA variants are suggested to cause loss of P4H-TM function.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2021)
Article
Multidisciplinary Sciences
Srinivas Kumar Ponna, Matti Myllykoski, Petri Kursula
Review
Biochemistry & Molecular Biology
Peppi Koivunen, Tuomas Laukka
CELLULAR AND MOLECULAR LIFE SCIENCES
(2018)
Article
Biochemistry & Molecular Biology
Ankita Chadda, Alexander G. Kozlov, Binh Nguyen, Timothy M. Lohman, Eric A. Galburt
Summary: In this study, it was found that the DNA damage response in Mycobacterium tuberculosis differs from well-studied model bacteria. The DNA repair helicase UvrD1 in Mtb is activated through a redox-dependent process and is closely associated with the homo-dimeric Ku protein. Additionally, Ku protein is shown to stimulate the helicase activity of UvrD1.
JOURNAL OF MOLECULAR BIOLOGY
(2024)