Review
Endocrinology & Metabolism
George A. Diaz, Mark Bechter, Stephen D. Cederbaum
Summary: Arginase 1 Deficiency (ARG1-D) is a rare urea cycle disorder that leads to hyperargininemia and neurological disorders. Current treatment methods, such as dietary protein restriction, have limited effectiveness.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Endocrinology & Metabolism
George A. Diaz, Andreas Schulze, Markey C. McNutt, Elisa Leao-Teles, J. Lawrence Merritt, Gregory M. Enns, Spyros Batzios, Allison Bannick, Roberto T. Zori, Leslie S. Sloan, Susan L. Potts, Gillian Bubb, Anthony G. Quinn
Summary: Pegzilarginase effectively lowers plasma arginine levels in patients with ARG1-D, leading to improvements in key mobility assessments. Common side effects include hypersensitivity reactions, vomiting, hyperammonemia, pruritus, and abdominal pain.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Clinical Neurology
Narmadham K. Bharathi, Maya Mary Thomas, Sangeetha Yoganathan, Mahalakshmi Chandran, Rekha Aaron, Sumita Danda
Summary: This study aims to describe the varied phenotypic spectrum of children with arginase deficiency. The study found that the children had diverse clinical presentations and characteristics, including delayed motor milestones, metabolic decompensation leading to encephalopathy, positive family history, and elevated serum arginine levels. Neuroimaging examinations showed various abnormal findings. Early identification and management are crucial for improving neurodevelopmental outcomes.
ANNALS OF INDIAN ACADEMY OF NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Sri Harsha Meghadri, Beatriz Martinez-Delgado, Lena Ostermann, Gema Gomez-Mariano, Sara Perez-Luz, Srinu Tumpara, Sabine Wrenger, David S. DeLuca, Ulrich A. Maus, Tobias Welte, Sabina Janciauskiene
Summary: Mutations in the SERPINA1 gene can lead to the deficiency of AAT protein, increasing the risk of chronic liver diseases and chronic obstructive pulmonary disease. Knockout of the Serpina1 gene in mice alters gene expression related to inflammation, lipid metabolism, and cholesterol metabolism in the liver, highlighting the importance of considering potential perturbations in key metabolic pathways when designing therapeutic strategies for SERPINA1 knockout in humans.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Endocrinology & Metabolism
Regine A. Jersin, Divya Sri Priyanka Tallapragada, Linn Skartveit, Mona S. Bjune, Maheswary Muniandy, Sindre Lee-Odegard, Sini Heinonen, Marcus Alvarez, Kare Inge Birkeland, Christian Andre Drevon, Paeivi Pajukanta, Adrian McCann, Kirsi H. Pietilainen, Melina Claussnitzer, Gunnar Mellgren, Simon N. Dankel
Summary: The expression and activity of the SLC7A10/ASC-1 gene, a neutral amino acid transporter, is reduced in insulin resistance and obesity. Impairment of SLC7A10 leads to increased lipid accumulation in adipocytes, suggesting that alternative lipogenic substrates may fuel lipogenesis during insulin resistance in obesity. This study investigates the impact of SLC7A10 expression and activity on the flux of lipogenic amino acids in adipocytes and its correlation with extracellular and circulating concentrations of marker metabolites.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Plant Sciences
Julia C. Hooker, Myron Smith, Gerardo Zapata, Martin Charette, Doris Luckert, Ramona M. Mohr, Ketema A. Daba, Thomas D. Warkentin, Mehri Hadinezhad, Brent Barlow, Anfu Hou, Francois Lefebvre, Ashkan Golshani, Elroy R. Cober, Bahram Samanfar
Summary: A study found that soybeans grown in western Canada have lower seed protein content compared to those grown in eastern Canada. Molecular biology and gene expression analysis revealed that this difference may be related to variations in key pathways such as amino acid metabolism and starch metabolism. Specifically, it was observed that western-grown soybeans had persistent upregulation of asparaginase and persistent downregulation of asparagine synthetase, and these enzymes were positively correlated with seed protein content and free asparagine in developing seeds.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Agricultural Engineering
Lijuan Wu, Rui Zhu, Xiaoxia Han, Yan Chen, Zhen Long, Hao Dong, Xiaojiang Chen, Yang Wu, Yinglong Su, Zhengyong Zhang, Jingyang Luo
Summary: Anaerobic fermentation is a promising method for the treatment of waste activated sludge (WAS), but the presence of sodium sulfite (SDS) in potassium permanganate (PP)-conditioned WAS fermentation reduces total short-chain fatty acids (SCFAs) yield while increasing the proportion of acetate. SDS not only decreases the effectiveness of PP in WAS solubilization and hydrolysis, but also alters microbial metabolic pathways to favor acetate production. Moreover, PP/SDS inhibits methanogenesis and leads to the accumulation of acetate. This study provides insights and directions for efficient WAS treatment with acetate-enriched SCFAs production.
BIORESOURCE TECHNOLOGY
(2023)
Article
Chemistry, Multidisciplinary
Jia-yu Yu, Nancy Cao, Christoph D. Rau, Ro-Po Lee, Jieping Yang, Rachel J. Roth Flach, Lauren Petersen, Cansheng Zhu, Yea-Lyn Pak, Russell A. Miller, Yunxia Liu, Yibin Wang, Zhaoping Li, Haipeng Sun, Chen Gao
Summary: Parallel to changes in fatty acid and glucose metabolism, defects in branched-chain amino acid (BCAA) catabolism have been recognized as a metabolic hallmark and potential therapeutic target for heart failure. This study developed two mouse models to investigate the impact of BCAA catabolic defects in cardiomyocytes. The results showed that inactivation of the BCKDHA gene in cardiomyocytes led to loss of cardiac function and pathological changes, while inactivation of the BCKDK gene did not impact cardiac function. These findings establish the cell-autonomous role of BCAA catabolism in cardiac physiology and provide valuable models for studying BCAA-targeted therapy for heart failure.
ACTA PHARMACOLOGICA SINICA
(2023)
Article
Biochemistry & Molecular Biology
Bo Zhang, Yan Chen, Xiaolei Shi, Mi Zhou, Lei Bao, Kimmo J. Hatanpaa, Toral Patel, Ralph J. DeBerardinis, Yingfei Wang, Weibo Luo
Summary: This study reveals that hypoxia induces upregulation of the BCAA transporter LAT1 and the BCAA metabolic enzyme BCAT1 in human glioblastoma cells through the mediation of HIF-1 and HIF-2. HIF-1α plays a critical role in hypoxia-induced BCAT1 expression, and knockout of HIFs reduces glutamate labeling from BCAAs in GBM cells. Inhibition of BCAT1 inhibits GBM cell growth under hypoxia, highlighting a previously unrecognized HIF-dependent metabolic pathway.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Article
Environmental Sciences
Xiaofang Wang, Lingyu Hu, Cuiyuan Jin, Mingrong Qian, Yuanxiang Jin
Summary: As an effective fungicide, excessive procymidone (PRO) residue has been found in the environment and food. Maternal exposure to PRO during pregnancy and lactation can affect the offspring's metabolism and lead to metabolic disorders. The difference in cytochrome P450 (CYP450) enzyme expression between male and female mice contributes to the higher drug residue in F1 generation male mice.
ENVIRONMENTAL TOXICOLOGY
(2023)
Article
Biology
Michelle Victoria Tomczewski, Maria Fernanda Fernandes, Rajan Singh Grewal, Robin Elaine Duncan
Summary: LPAAT delta-deficient mice exhibit age-related metabolic differences, including decreased body weight and increased oxygen consumption, carbon dioxide production, respiratory exchange ratio, and total energy expenditure.
Article
Environmental Sciences
Xiaoke Ren, Lisen Lin, Qinglin Sun, Tianyu Li, Mengqi Sun, Zhiwei Sun, Junchao Duan
Summary: This study explored the adverse effects of acute exposure to electronic cigarettes (E-cigs) on organs and metabolomics changes in mice. The study found that E-cigs exposure led to pathological changes, increased cell apoptosis, and elevated oxidative damage indicators. There were also changes in metabolites and metabolic pathways. Additionally, E-cigs exposure may be related to diseases such as type 2 diabetes mellitus and propionic acidemia.
SCIENCE OF THE TOTAL ENVIRONMENT
(2022)
Article
Multidisciplinary Sciences
Slobodan Tepic, Daniel Arens, Tim Buchholz, Dirk Nehrbass, Olivera Cvetkovic, Martin J. Stoddart, R. G. Richards, Stephan Zeiter
Summary: Pneumonia, especially during the COVID-19 pandemic, has become a major public health and economic disaster. This study suggests that lung metabolism in inflammation may have common features regardless of the underlying cause. By comparing mice with bleomycin-induced lung inflammation to control groups, it was found that certain amino acids had significantly lower concentrations in the arterial blood, indicating that arginine replacement therapy may be beneficial in pneumonia.
Article
Agriculture, Multidisciplinary
Chang Liu, Yahui Guo, Yuliang Cheng, He Qian
Summary: This study demonstrates that torularhodin-loaded bilosomes can improve hypercholesterolemia in mice fed a high-fat, high-cholesterol diet. Torularhodin alleviated weight gain, insulin resistance, and liver lipid accumulation. It also modulated inflammatory response and promoted amino acid metabolism.
JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY
(2023)
Article
Multidisciplinary Sciences
Anna Wrobeln, Tristan Leu, Jadwiga Jablonska, Urban Geisthoff, Stephan Lang, Joachim Fandrey, Freya Droege
Summary: Patients with hereditary haemorrhagic telangiectasia (HHT) suffer from abnormal vessel structures, leading to vessel hemorrhage and shunt effects. This study found significantly decreased expression of HIF-1 alpha in HHT patients, with no effect on the known upstream regulators of HIF-1 alpha. The results highlight the importance of HIF in HHT and suggest an interaction between the known HHT mutation and HIF-1 alpha dysregulation in HHT patients.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Anath C. Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S. Reuter, S. Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam, Giovanna Pellecchia, Wilson W. L. Sung, Zhuozhi Wang, Peter Bikangaga, Cyrus Boelman, Melissa T. Carter, Dawn Cordeiro, Cheryl Cytrynbaum, Sharon D. Dell, Priya Dhir, James J. Dowling, Elise Heon, Stacy Hewson, Linda Hiraki, Michal Inbar-Feigenberg, Regan Klatt, Jonathan Kronick, Ronald M. Laxer, Christoph Licht, Heather MacDonald, Saadet Mercimek-Andrews, Roberto Mendoza-Londono, Tino Piscione, Rayfel Schneider, Andreas Schulze, Earl Silverman, Komudi Siriwardena, O. Carter Snead, Neal Sondheimer, Joanne Sutherland, Ajoy Vincent, Jonathan D. Wasserman, Rosanna Weksberg, Cheryl Shuman, Chris Carew, Michael J. Szego, Robin Z. Hayeems, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Sarah Bowdin, M. Stephen Meyn, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall
GENETICS IN MEDICINE
(2018)
Article
Biochemistry & Molecular Biology
Xinzhi Li, Liudmila L. Mazaleuskaya, Laurel L. Ballantyne, Hu Meng, Garret A. FitzGerald, Colin D. Funk
JOURNAL OF LIPID RESEARCH
(2018)
Article
Biochemistry & Molecular Biology
Xinzhi Li, Liudmila L. Mazaleuskaya, Chong Yuan, Laurel L. Ballantyne, Hu Meng, William L. Smith, Garret A. FitzGerald, Colin D. Funk
JOURNAL OF LIPID RESEARCH
(2018)
Article
Genetics & Heredity
Fady Hannah-Shmouni, Vivian Cruz, Andreas Schulze, Saadet Mercimek-Andrews
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2018)
Article
Biochemistry & Molecular Biology
Xinzhi Li, Liudmila L. Mazaleuskaya, Laurel L. Ballantyne, Hu Meng, Garret A. FitzGerald, Colin D. Funk
Article
Endocrinology & Metabolism
Theodora U. J. Bruun, Sarah Sidky, Anabela O. Bandeira, Francoise-Guillaume Debray, Can Ficicioglu, Jennifer Goldstein, Kairit Joost, Dwight D. Koeberl, Diogo Luisa, Marie-Cecile Nassogne, Siobhan O'Sullivan, Katrin Ounap, Andreas Schulze, Lionel van Maldergem, Gajja S. Salomons, Saadet Mercimek-Andrews
METABOLIC BRAIN DISEASE
(2018)
Article
Endocrinology & Metabolism
Nicole Coles, Ian Comeau, Tatiana Munoz, Jennifer Harrington, Roberto Mendoza-Londono, Andreas Schulze, Sari Kives, Binita M. Kamath, Jill Hamilton
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
(2019)
Article
Endocrinology & Metabolism
Ankit Sinha, Sohail Ahmed, Chris George, Melina Tsagaris, Amriya Naufer, Ingo von Both, Ilona Tkachyova, Matthijs van Eede, Mark Henkelman, Andreas Schulze
JOURNAL OF INHERITED METABOLIC DISEASE
(2020)
Review
Virology
Colin D. Funk, Craig Laferriere, Ali Ardakani
Summary: The SARS-CoV-2 virus has caused a devastating global pandemic with millions infected and dead. Efforts have been made to develop vaccines, with several in advanced stages of clinical trials and receiving emergency use authorization. The global vaccine rollout is crucial in ending the pandemic.
Article
Genetics & Heredity
Zhuo Shao, Ikuo Masuho, Anupreet Tumber, Jason T. Maynes, Erika Tavares, Asim Ali, Stacy Hewson, Andreas Schulze, Peter Kannu, Kirill A. Martemyanov, Ajoy Vincent
Summary: Identifying multiple ultra-rare genetic syndromes with overlapping phenotypes presents a diagnostic challenge in clinical genetics. This study focused on the pathogenicity of a homozygous missense variant in GNB5 in a female child with 3-MCC deficiency and hemoglobin E trait. Functional assays were vital in confirming the variant's pathogenicity and emphasizing the importance of precise phenotyping for accurate clinical diagnosis in complex medical conditions.
Article
Nutrition & Dietetics
Liali Aljouda, Laura Nagy, Andreas Schulze
Summary: This study investigated the effectiveness of a diet restricted in long-chain triglycerides (LCTs) and supplemented with medium-chain triglycerides (MCTs) in reducing triglyceride levels and symptoms in children with lipoprotein lipase (LPL) deficiency. Results showed that the diet led to a significant drop in triglyceride levels in LPL patients and no disease-specific manifestations or complications. The study suggests that the LCT-restricted and MCT-supplemented diet is a feasible, well-tolerated, and clinically effective long-term management option for pediatric patients with LPL deficiency.
Article
Biochemistry & Molecular Biology
Joshua Atienza, Ilona Tkachyova, Michael Tropak, Xiaolian Fan, Andreas Schulze
Summary: A fluorometric coupled enzyme assay was developed for studying NDST1 enzyme kinetics and inhibitory properties. The assay used different substrates to determine the enzyme's kinetic parameters and demonstrated the specificity of mNDST1. This study showed that the mNDST1 coupled assay can be used for evaluating enzyme inhibitors for drug development.
Article
Pharmacology & Pharmacy
Guizhu Liu, Qian Liu, Yujun Shen, Deping Kong, Yanjun Gong, Bo Tao, Guilin Chen, Shumin Guo, Juanjuan Li, Shengkai Zuo, Yu Yu, Huiyong Yin, Li Zhang, Bin Zhou, Colin D. Funk, Jian Zhang, Ying Yu
BRITISH JOURNAL OF PHARMACOLOGY
(2018)
Meeting Abstract
Endocrinology & Metabolism
Chris George, Melina Tsagaris, Ilona Tkachyova, Andreas Schulze
MOLECULAR GENETICS AND METABOLISM
(2018)
Meeting Abstract
Endocrinology & Metabolism
Jonathan B. Kronick, Michael Pugliese, Kylie Tingley, Pranesh Chakraborty, Michael Geraghty, Michael Kowalski, Monica Lamoureux, Beth K. Potter, Doug Coyle, Kumanan Wilson, Valerie Austin, Catherine Brunel, Daniela Buhas, Maggie Chapman, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Jane Gillis, Sharan Goobie, Shailly Jain, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler, Yannis Trakadis, Lesley Turner, Keiko Ueda, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Brenda J. Wilson, Nataliya Yuskiv
MOLECULAR GENETICS AND METABOLISM
(2018)