Article
Plant Sciences
Jana Vasilev, Ann-Kathrin Mix, Thomas Heimerl, Uwe G. Maier, Daniel Moog
Summary: Peroxisomes play important roles in metabolic processes in eukaryotic cells, such as detoxification of reactive oxygen species and degradation of fatty acids. Recent studies have found the presence of peroxisomes in cryptophytes and other chromalveolates. This study investigated the subcellular localization of candidate proteins in a diatom and found that peroxisomes in cryptophytes are involved in various metabolic processes, but not in the beta-oxidation of fatty acids.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Biology
Yutian Jia, Yanming Zhang, Wenhao Wang, Jianlin Lei, Zhengxin Ying, Guanghui Yang
Summary: This study reports the structure of human ALDP, revealing its cytosolic-facing conformation and substrate binding cavities. Furthermore, the pathogenic mechanisms of mutations are analyzed, providing a basis for understanding the working mechanism of ALDP and the pathogenic roles of disease-associated mutations.
Article
Immunology
Elisabeth Digifico, Marco Erreni, Laura Mannarino, Sergio Marchini, Aldo Ummarino, Clement Anfray, Luca Bertola, Camilla Recordati, Daniela Pistillo, Massimo Roncalli, Paola Bossi, Paolo Andrea Zucali, Maurizio D'Incalci, Cristina Belgiovine, Paola Allavena
Summary: This study investigated the expression of inflammatory mediators in tumor samples from patients with Malignant Pleural Mesothelioma (MPM), focusing on inflammatory cytokines, chemokines, and matrix components. The results showed that Osteopontin (OPN) was significantly upregulated in MPM tumors and plasma samples, and its high expression was associated with poor prognosis. In animal models, OPN was found to promote MPM cell proliferation, and inhibition of its signaling pathway could restrain tumor progression. These findings have translational potential for improving the therapeutic response in human MPM.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Multidisciplinary Sciences
Maximilian Ruettermann, Michelle Koci, Pascal Lill, Ermis Dionysios Geladas, Farnusch Kaschani, Bjoern Udo Klink, Ralf Erdmann, Christos Gatsogiannis
Summary: This study provides cryo-EM structures of Pex1/Pex6 and reveals their mechanism of protein substrate translocation. Pex1/Pex6 generates mechanical forces through ATP hydrolysis to drive substrate transport across the peroxisomal membrane.
NATURE COMMUNICATIONS
(2023)
Article
Agriculture, Multidisciplinary
Zahir Shah, Syed Lal Badshah, Arshad Iqbal, Zamarud Shah, Abdul-Hamid Emwas, Mariusz Jaremko
Summary: Freshwater macroalgae were found to contain important secondary metabolites with medicinal properties, which can be used as biopesticides, plant growth enhancers, and remedies for diseases in farm animals. The extracts also contain essential oils that can be utilized in various industrial products.
CHEMICAL AND BIOLOGICAL TECHNOLOGIES IN AGRICULTURE
(2022)
Review
Chemistry, Analytical
Xianming Liu, Dachuan Ma, Haiyue Ye, Yue Hou, Xue Bai, Yaru Xing, Xing Cheng, Bingcheng Lin, Yao Lu
Summary: Digital microfluidics (DMF) has achieved significant scientific and technical advancements in the past two decades due to its distinctive droplet actuation via electrowetting on individually addressable electrodes. Offering reduced sample consumption, programmability, reconfigurability, and ease of intelligent recognition and closed-loop control, DMF provides preciseness and flexibility in biological and chemical sample handling. This paper comprehensively reviews recent developments in DMF chip fabrication, control and automation, system integration, instrumentation, and applications, highlighting the trend towards high-level integration and miniaturization.
TRAC-TRENDS IN ANALYTICAL CHEMISTRY
(2023)
Article
Plant Sciences
Ting Zhang, Ya-Nan Li, Xue Li, Wangliu Gu, Emily Kolojane Moeketsi, Ruiwen Zhou, Xiaobo Zheng, Zhengguang Zhang, Haifeng Zhang
Summary: The study identified MoPCS60 as a key peroxisomal-CoA synthetase involved in fatty acid beta-oxidation and pathogenicity in rice blast fungi. MoPCS60 was highly expressed during the conidial and early infectious stages and was induced under oleate treatment.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Claudio F. Costa, Celien Lismont, Serhii Chornyi, Hongli Li, Mohamed A. F. Hussein, Hans R. Waterham, Marc Fransen
Summary: Peroxisomes play a crucial role in cellular redox metabolism and communication. Our understanding of how the peroxisomal redox equilibrium is maintained, especially the function of glutathione in the peroxisome interior, remains limited. This study identifies a human peroxisomal enzyme, GSTK1, as a glutathione-consuming enzyme and demonstrates its role in peroxisomal glutathione regulation. The findings suggest that GSTK1 has GSH-dependent disulfide bond oxidoreductase activity.
Article
Endocrinology & Metabolism
Peter J. Wegwerth, Amy L. White, Stephanie D. Stoway, Perry R. Loken, Devin Oglesbee, Dietrich Matern, Silvia Tortorelli, Kimiyo M. Raymond, Nancy E. Braverman, Dimitar K. Gavrilov
Summary: Measurement of plasmalogens is important in the biochemical diagnosis of RCDP and ZSD. A test method for simultaneous quantitation of plasmalogen species and their corresponding fatty acids has been developed. Normal reference ranges and preliminary disease ranges have been established. Integrated score and likelihood of disease can be generated using postanalytical interpretive tools to differentiate between RCDP and ZSD, along with review of clinical phenotype and other test results.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Review
Endocrinology & Metabolism
Stefania Palumbo, Grazia Cirillo, Francesca Aiello, Alfonso Papparella, Emanuele Miraglia del Giudice, Anna Grandone
Summary: Puberty is a critical process involving various physical and psychological changes, and the MKRN3 gene plays a significant role in regulating the timing of puberty.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Cell Biology
Amr Kataya, Nitija Gautam, Muhammad Jamshed, Douglas G. Muench, Marcus A. Samuel, Jay J. Thelen, Greg B. Moorhead
Summary: This study identified protein kinases in peroxisomes and investigated their functions and regulation. The findings provide new insights into the regulation of peroxisome functions.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Integrative & Complementary Medicine
Jinke Huang, Ting Chen, Jiaqi Zhang, Xiangxue Ma, Fengyun Wang, Xudong Tang
Summary: Functional gastrointestinal disorders (FGIDs) have overlapping symptoms, presenting a challenge for treatment strategies. However, the shared pathophysiological mechanisms of FGIDs can be targeted for therapeutic development to treat underlying diseases rather than just alleviating symptoms.
AMERICAN JOURNAL OF CHINESE MEDICINE
(2023)
Article
Clinical Neurology
Ursula Thome, Larissa A. Batista, Renata P. Rocha, Vera C. Terra, Ana Paula A. Hamad, Americo C. Sakamoto, Antonio C. Santos, Marcelo Santos, Helio R. Machado
Summary: Rasmussen encephalitis (RE) is a characterized by pharmacoresistant epilepsy and progressive neurological deficits. Surgical disconnection of the affected hemisphere is considered the treatment of choice, although the precise etiology is still unknown. This study reports the clinical, electrographic, and neuroimaging features of children and adolescents who underwent hemispheric surgery (HS) for the treatment of RE.
PEDIATRIC NEUROLOGY
(2024)
Article
Medicine, General & Internal
Brian Y. Kim, Tyler A. Concannon, Luis C. Barboza, Talal W. Khan
Summary: The importance of diagnostic injections in the treatment of neck and back pain is highlighted in this study, with an emphasis on their role in diagnosing different pain symptoms. This provides important evidence for improving diagnostic accuracy and guiding treatment strategies.
Article
Medicine, General & Internal
Ciaran Campbell, Costin Leu, Yen-Chen Anne Feng, Stefan Wolking, Claudia Moreau, Colin Ellis, Shiva Ganesan, Helena Martins, Karen Oliver, Isabelle Boothman, Katherine Benson, Anne Molloy, Lawrence Brody, Jacques L. Michaud, Fadi F. Hamdan, Berge A. Minassian, Holger Lerche, Ingrid E. Scheffer, Sanjay Sisodiya, Simon Girard, Patrick Cosette, Norman Delanty, Dennis Lal, Gianpiero L. Cavalleri
Summary: This study found that common genetic variations contribute to the etiology of DEEs and other forms of epilepsy with ID, even when there is a known pathogenic variant of major effect. These results provide insight into the genetic underpinnings of severe epilepsies and indicate a shift in our understanding of the etiology of DEEs from monogenic disorders to complex disorders.
Article
Biochemistry & Molecular Biology
Richard G. Lee, Shanti Balasubramaniam, Maike Stentenbach, Tom Kralj, Timothy McCubbin, Benjamin Padman, Janine Smith, Lisa G. Riley, Archana Priyadarshi, Liuyu Peng, Madison R. Nuske, Richard Webster, Ken Peacock, Philip Roberts, Zornitza Stark, Gabrielle Lemire, Yoko A. Ito, Kym M. Boycott, Michael T. Geraghty, Jan Bert Klinken, Sacha Ferdinandusse, Ying Zhou, Rebecca Walsh, Esteban Marcellin, David R. Thorburn, Tony Rosciolli, Janice Fletcher, Oliver Rackham, Frederic M. Vaz, Gavin E. Reid, Aleksandra Filipovska
Summary: This study reports four individuals with mitochondrial encephalopathy caused by biallelic variants in the CRLS1 gene. The study provides evidence that these variants lead to dysfunction in cardiolipin synthase 1 (CRLS1), resulting in impaired mitochondrial morphology and biogenesis. The study also identifies key signatures in cardiolipin and proteome profiles, which can be used for future diagnosis of mitochondrial diseases.
HUMAN MOLECULAR GENETICS
(2022)
Editorial Material
Endocrinology & Metabolism
Frederic M. Vaz, Ronald J. A. Wanders, Hilary Vernon
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Oncology
Lihui Guo, Bernadette Schurink, Eva Roos, Esther J. Nossent, Jan Willem Duitman, Alexander P. J. Vlaar, Paul van der Valk, Frederic M. Vaz, Syun-Ru Yeh, Zachary Geeraerts, Annemiek Dijkhuis, Lonneke van Vught, Marianna Bugiani, Rene Lutter
Summary: COVID-19 is associated with the accumulation of tryptophan degradation products in the lungs, heart, and brain. The expression of IDO-2, an isoform rarely expressed, is related to cell death and severe cellular stress in these organs. The early activation of the kynurenine/aryl-hydrocarbon receptor/IDO-2 axis may contribute to the pathology of severe COVID-19.
JOURNAL OF PATHOLOGY
(2022)
Article
Endocrinology & Metabolism
Muhammad Wasim, Haq N. Khan, Hina Ayesha, Mazhar Iqbal, Abdul Tawab, Muhammad Irfan, Warsha Kanhai, Susanna M. Goorden, Lida Stroomer, Gajja Salomons, Frederic M. Vaz, Clara D. M. van Karnebeek, Fazli R. Awan
Summary: Classical homocystinuria (HCU) is a metabolic disorder caused by cystathionine-beta-synthase deficiency, leading to symptoms like intellectual disability. A study in Pakistan identified HCU patients among intellectually disabled individuals and successfully treated them with personalized care, resulting in noticeable improvements in symptoms.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2022)
Article
Multidisciplinary Sciences
Maaike Blankestijn, Vincent W. Bloks, Dicky Struik, Nicolette Huijkman, Niels Kloosterhuis, Justina C. Wolters, Ronald J. A. Wanders, Frederic M. Vaz, Markus Islinger, Folkert Kuipers, Bart van de Sluis, Albert K. Groen, Henkjan J. Verkade, Johan W. Jonker
Summary: The study of a Pxmp4 knockout mouse model suggests that PXMP4 is not critical for overall peroxisome function but may have a role in the metabolism of (ether)lipids.
SCIENTIFIC REPORTS
(2022)
Article
Cell Biology
Danielle Swinkels, Yannick Das, Sai Kocherlakota, Stefan Vinckier, Eric Wever, Antoine H. C. van Kampen, Frederic M. Vaz, Myriam Baes
Summary: Peroxisomal beta-oxidation plays an important role in the integrity of photoreceptor ribbon synapses and bipolar cells.
Article
Biochemistry & Molecular Biology
Sabrina Sailer, Katharina Lackner, Mia L. Pras-Raves, Eric J. M. Wever, Jan B. van Klinken, Adriaan D. Dane, Stephan Geley, Jakob Koch, Georg Golderer, Gabriele Werner-Felmayer, Markus A. Keller, Werner Zwerschke, Frederic M. Vaz, Ernst R. Werner, Katrin Watschinger
Summary: Little is known about the physiological role of alkylglycerol monooxygenase (AGMO), but recent studies have shown that it plays a role in lipid metabolism by affecting the unsaturation degree and lipid composition. In this study, knockdown of AGMO in 3T3-L1 adipocytes did not interfere with adipogenesis or lipid droplet formation, but led to the preferential accumulation of plasmalogen phospholipids and changes in the unsaturation degree of diacylglycerols and triacylglycerols.
JOURNAL OF LIPID RESEARCH
(2022)
Article
Multidisciplinary Sciences
Yasmine J. Liu, Arwen W. Gao, Reuben L. Smith, Georges E. Janssens, Daan M. Panneman, Aldo Jongejan, Michel van Weeghel, Frederic M. Vaz, Melissa J. Silvestrini, Louis R. Lapierre, Alyson W. MacInnes, Riekelt H. Houtkooper
Summary: The expression of the gene ech-6 affects the lifespan response of Caenorhabditis elegans to high fat diet, while basal expression is important for survival under normal dietary conditions. There is a causal relation between the lysosomal pathway, energy production, and the effect of fat diets on lifespan. Manipulating lysosomal lipase activity can modulate fat energy production and affect lifespan.
SCIENTIFIC REPORTS
(2022)
Article
Hematology
Alex R. Schuurman, Valentine Leopold, Liza Pereverzeva, Osoul Chouchane, Tom D. Y. Reijnders, Justin de Brabander, Renee A. Douma, Michel van Weeghel, Eric Wever, Bauke V. Schomaker, Frederic M. Vaz, Willem Joost Wiersinga, Cornelis van't Veer, Tom van der Poll
Summary: This study reveals the profound impact of COVID-19 infection on the lipid composition of human platelets, and identifies associations between platelet lipid composition and reactivity.
THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Cell Biology
Deena Damschroder, Ruben Zapata-Perez, Kristin Richardson, Frederic M. Vaz, Riekelt H. Houtkooper, Robert Wessells
Summary: Barth syndrome is a mitochondrial disorder characterized by impaired exercise tolerance. Boosting NAD+ levels or using nicotinamide riboside can improve symptoms, and muscles and neurons are potential targets for future therapies.
DISEASE MODELS & MECHANISMS
(2022)
Article
Endocrinology & Metabolism
Monique Albersen, Samantha L. van der Beek, Inge M. E. Dijkstra, Marielle Alders, Rinse W. Barendsen, Jet Bliek, Anita Boelen, Merel S. Ebberink, Sacha Ferdinandusse, Susan M. Goorden, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Ingrid Metgod, Gajja S. Salomons, Frederic M. Vaz, Rendelien K. Verschoof-Puite, Wouter F. Visser, Eugenie Dekkers, Marc Engelen, Stephan Kemp
Summary: Males with X-linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. The Dutch Health Council recommended to screen only male newborns for ALD without identifying untreatable conditions associated with elevated C26:0-LPC. The results of the SCAN study show the feasibility of a boys-only screening algorithm that identifies males with ALD without identifying untreatable conditions.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Medical Laboratory Technology
Frederic M. Vaz, Youssra Jamal, Rob Barto, Michael H. Gelb, Andrea E. DeBarber, Ron A. Wevers, Marcel R. Nelen, Aad Verrips, Albert H. Bootsma, Marelle J. Bouva, Nick Kleise, Walter van der Zee, Tao He, Gajja S. Salomons, Hidde H. Huidekoper
Summary: This study aims to test the feasibility of newborn screening for Cerebrotendinous Xanthomatosis (CTX). It was found that using FIA-MS/MS or UPLC-MS/MS to measure the metabolite ratios of three CTX biomarkers is feasible for newborn screening.
CLINICA CHIMICA ACTA
(2023)
Article
Endocrinology & Metabolism
Sander M. M. Houten, Tetyana Dodatko, William Dwyer, Sara Violante, Hongjie Chen, Brandon Stauffer, Robert J. J. DeVita, Frederic M. Vaz, Justin R. R. Cross, Chunli Yu, Joao Leandro
Summary: This study suggests that inhibition of SBCAD enzyme can reduce the accumulation of toxic metabolic intermediates in disorders of valine and isoleucine metabolism, providing a new approach for treating related diseases.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Letter
Transplantation
Elisabeth L. Metry, Sander F. Garrelfs, Hessel Peters-Sengers, Frederic M. Vaz, Joost A. Bijlsma, Aegida Neradova, Michiel J. S. Oosterveld, Jaap W. Groothoff
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Clinical Neurology
Arthur W. D. Edridge, Gasim Abd-Elfarag, Martin Deijs, Melissa H. Broeks, Cosimo Cristella, Brandon Sie, Frederic M. Vaz, Judith J. M. Jans, Job Calis, Hans Verhoef, Ayse Demir, Sven Poppert, Beatrice Nickel, Alje van Dam, Boy Sebit, Maarten J. Titulaer, Jaco J. Verweij, Menno D. de Jong, Tom van Gool, Brian Faragher, Nanda M. Verhoeven-Duif, Stephen J. Elledge, Lia van der Hoek, Michael Boele van Hensbroek
Summary: Nodding syndrome is a neglected, disabling and potentially fatal epileptic disorder that primarily affects individuals in Eastern sub-Saharan Africa. Our study suggests that Mansonella perstans infection, Necator americanus infection, higher antimalarial seroreactivity, higher vitamin E concentration, and lower vitamin B12 concentration are associated with an increased risk of nodding syndrome.
BRAIN COMMUNICATIONS
(2023)
