Article
Medical Laboratory Technology
Dengpiao Xie, Liangbin Zhao, Ling Wu, Qing Ji
Summary: This study found that BTMs were significantly higher in patients with advanced CKD stages compared to early stages. PTH level was positively correlated with BTM levels in patients with CKD. Patients with secondary hyperparathyroidism (SHPT) had higher levels of beta-CTX and N-MID OC than those without SHPT.
CLINICA CHIMICA ACTA
(2023)
Article
Endocrinology & Metabolism
Jakob Kau Starup-Linde, Rikke Viggers, Bente Langdahl, Soeren Gregersen, Simon Lykkeboe, Aase Handberg, Peter Vestergaard
Summary: Osteoglycin levels were similar in patients with type 1 and type 2 diabetes, and were not correlated with glucose, HbA1c, or any other biochemical marker of bone turnover. This suggests that there is no evidence supporting the existence of an osteoglycin-bone-pancreas axis.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Nutrition & Dietetics
Sakda Arj-Ong Vallibhakara, Katanyuta Nakpalat, Areepan Sophonsritsuk, Chananya Tantitham, Orawin Vallibhakara
Summary: The study suggests that vitamin E (mixed-tocopherol) supplementation may have a preventive effect on bone loss in postmenopausal osteopenic women through anti-resorptive activity.
Article
Nutrition & Dietetics
Juan J. Lopez-Gomez, Jose L. Perez-Castrillon, Isabel Garcia de Santos, Maria Perez-Alonso, Olatz Izaola-Jauregui, David Primo-Martin, Daniel A. De Luis-Roman
Summary: This study examined the differences in bone metabolism between postmenopausal women with and without obesity, and compared the risk of fracture at five years between these groups.
Article
Medicine, General & Internal
Izabela Michalus, Anna Lupinska, Izabela Woch, Katarzyna Wieczorek-Szukala, Danuta Chlebna-Soko, Andrzej Lewinski
Summary: This retrospective study explored the bone turnover and bone mass disorders in children with hypophosphatemic rickets. The results showed that bone metabolism disturbances and worse bone quality were found in these patients. It is crucial to monitor the progress and treatment effects by determining bone turnover markers, dual-energy X-ray absorptiometry findings, and indices of quantitative ultrasound examination.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Endocrinology & Metabolism
Courtney L. Robertson, Gaurav Ghosh, Patrick Fitzgerald, Graeme J. Hankey, Itamar Levinger, Jonathan Golledge, Osvaldo P. Almeida, Leon Flicker, Peter R. Ebeling, Bu B. Yeap
Summary: Evaluation of bone turnover markers including ucOC in serum can provide risk information for all-cause mortality in older men, and higher levels of ucOC, PINP, and CTX are associated with increased risk of all-cause mortality.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Review
Endocrinology & Metabolism
Mingwei Hu, Yifan Zhang, Jianjun Guo, Cuicui Guo, Xue Yang, Xue Ma, Hao Xu, Shuai Xiang
Summary: This study evaluated the changes in bone mineral density and bone turnover markers after denosumab and romosozumab therapies in patients with osteoporosis. The results showed that the romosozumab group exhibited greater changes in lumbar BMD and bone turnover markers at 3 months of treatment, while changes in BMD of total hip and femoral neck were relatively delayed. From 6 to 12 months of treatment, romosozumab showed greater changes in bone mineral density and markers of bone turnover.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Nutrition & Dietetics
Minkyung Je, Kyeonghoon Kang, Jun-Il Yoo, Yoona Kim
Summary: This review aims to investigate the effects of macronutrients on bone health in elderly people based on human studies. The results suggest that carbohydrate intake has limited effects on bone fracture but further research is needed on its effects on bone mineral density and bone turnover markers. Additionally, inconsistent results were found regarding the beneficial effects of animal, vegetable, soy, or milk proteins on bone health. Further studies are required to establish a clear association between macronutrients and bone health in elderly people.
Article
Endocrinology & Metabolism
Shannon Clare, Alexander Dash, Yi Liu, Jonathan Harrison, Katelyn Vlastaris, Seth Waldman, Robert Griffin, Paul Cooke, Vijay Vad, Ellen Casey, Richard S. Bockman, Joseph Lane, Donald McMahon, Emily M. Stein
Summary: This study investigated the acute changes in bone turnover following epidural steroid injections (ESIs) in postmenopausal women. Results showed a significant decrease in bone formation markers one week after ESI, which lasted for at least 12 weeks. Further investigation into the long-term skeletal consequences of these injections is warranted, considering the large population of older adults who receive ESIs.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Ying Li, Qijun Cai, Chenchen Dong, Lu Hou, Yingxin Li, Bin Guo, Chunyuan Zeng, Yong Cheng, Jingjie Shang, Xueying Ling, Jian Gong, Hao Xu
Summary: This study examined bone turnover markers and hormones in cynomolgus monkeys at different ages. The results showed that female cynomolgus monkeys reached peak bone density at 10 years of age and maintained it until old age. Bone turnover markers peaked at 1 to 3 years of age and gradually decreased with age. Hormone levels did not significantly differ among age groups.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Christian Meier, Richard Eastell, Dominique D. Pierroz, Nancy E. Lane, Nasser Al-Daghri, Atsushi Suzuki, Nicola Napoli, Ambrish Mithal, Marlene Chakhtoura, Ghada El-Hajj Fuleihan, Serge Ferrari
Summary: This review provides a summary of current data on biochemical markers in relation to bone fragility and fracture risk in diabetes. The results show that although bone resorption and bone formation markers are not effective predictors of fracture risk in diabetes, osteoporosis drugs have similar effects on bone turnover markers in both diabetics and nondiabetics, resulting in reduced fracture risk. Other biochemical markers related to bone and glucose metabolism, such as sclerostin, glycated hemoglobin A(1c), and inflammatory markers, as well as hormones like insulin-like growth factor-1 and calciotropic hormones, are also associated with bone mineral density and fracture risk in diabetes. HbA(1c) levels appear to be the most reliable estimate of fracture risk, while bone turnover markers can be used to monitor the effects of antiosteoporosis therapy.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medicine, General & Internal
Arkadiusz Zygmunt, Kinga Krawczyk-Rusiecka, Elzbieta Skowronska-Jozwiak, Katarzyna Wojciechowska-Durczynska, Ewa Glowacka, Zbigniew Adamczewski, Andrzej Lewinski
Summary: The study found that recombinant human TSH (rhTSH) has an impact on the concentrations of sclerostin and other bone markers, with a significant increase in TSH concentration leading to decreases in sclerostin, osteocalcin, and beta-CrossLaps levels. Additionally, baseline PTH, age, and creatinine concentrations can affect the degree of TSH increase.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Eun-Jung Lee, Woojin Na, Min-Kyung Kang, Yun-Ho Kim, Dong-Yeon Kim, Hyeongjoo Oh, Soo-Il Kim, Su-Yeon Oh, Sohyun Park, Kyungho Park, Young-Hee Kang
Summary: Scopoletin has shown potential in protecting diabetic mice from bone loss by inhibiting bone remodeling impairment and turnover damage. It accelerates bone resorption and enhances bone cell activity, preventing bone mass reduction and osteoporosis.
Review
Medical Laboratory Technology
Yiduo Zhang, Xiaocui Huang, Chao Li, Jing Zhang, Xingnan Yu, Ye Li, Wenjie Zhou, Fan Yu
Summary: Bone turnover markers are crucial in pediatric medicine, as they can aid in the diagnosis and prognosis of bone metabolic disorders.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Engineering, Biomedical
Dishary Banerjee, Margarita M. Ivanova, Nazmiye Celik, Myoung Hwan Kim, Irem Deniz Derman, Renuka Pudi Limgala, Ibrahim T. Ozbolat, Ozlem Goker-Alpan
Summary: In this study, a 3D human model of Gaucher disease (GD) was created using aspiration-assisted freeform bioprinting. The model has the potential to decode the cellular basis of developmental bone abnormalities in GD and can be used for personalized drug screening and development.
Article
Cell Biology
Or Cabasso, Sumit Paul, Gali Maor, Metsada Pasmanik-Chor, Wouter Kallemeijn, Johannes Aerts, Mia Horowitz
Summary: The study characterized a mutant variant of fly GBA1a, which activated the UPR machinery and upregulated inflammation-associated and cell-cycle related genes while downregulating programmed cell death genes, resulting in compromised cell death in the midgut of larvae and reduction in pupation. Results strongly suggest that the GBA1a-encoded protein plays a role in midgut maturation during larvae development.
Article
Chemistry, Multidisciplinary
Faezeh Nami, Maria Joao Ferraz, Thomas Bakkum, Johannes M. F. G. Aerts, Anjali Pandit
Summary: This study reports a method for tracking microbial fermentation, lipid metabolism, and structural dynamic changes using nuclear magnetic resonance (NMR) technology. The results show that lipolysis under dark and anoxia conditions leads to the breakdown of cell and organelle membranes.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
(2022)
Article
Chemistry, Organic
Nicholas G. S. McGregor, Chi-Lin Kuo, Thomas J. M. Beenakker, Chun-Sing Wong, Wendy A. Offen, Zachary Armstrong, Bogdan Florea, Jeroen D. C. Codee, Herman S. Overkleeft, Johannes M. F. G. Aerts, Gideon J. Davies
Summary: Researchers have synthesized beta-manno-configured cyclophellitol and its analogues for detecting exo-beta-mannosidases. These probes selectively label exo-beta-mannosidases from different GH families and structural studies confirm their mechanism of action.
ORGANIC & BIOMOLECULAR CHEMISTRY
(2022)
Article
Biochemistry & Molecular Biology
Martijn J. C. van der Lienden, Jan Aten, Rolf G. Boot, Marco van Eijk, Johannes M. F. G. Aerts, Chi-Lin Kuo
Summary: This study investigates the impact of 4-(2-hydroxyethyl)-1-piperazineethanesulfonic acid (HEPES) supplementation on the processing, lysosomal degradation, and total cellular enzyme level of GCase. It is found that HEPES supplementation reduces the maturation of other lysosomal enzymes and increases GCase activity in fibroblasts derived from Gaucher disease (GD) patients, complicating the use of cultured cells for diagnosing GD.
JOURNAL OF CELLULAR BIOCHEMISTRY
(2022)
Article
Biochemistry & Molecular Biology
Lindsey T. Lelieveld, Sophie Gerhardt, Saskia Maas, Kimberley C. Zwiers, Claire de Wit, Ernst H. Beijk, Maria J. Ferraz, Marta Artola, Annemarie H. Meijer, Christian Tudorache, Daniela Salvatori, Rolf G. Boot, Johannes M. F. G. Aerts
Summary: In Gaucher disease, excessive GlcSph has little impact on (neuro)inflammation or GlcCer-laden macrophages, but rather seems harmful to th1-positive dopaminergic neurons.
JOURNAL OF LIPID RESEARCH
(2022)
Review
Cell Biology
Duarte C. Barral, Leopoldo Staiano, Claudia Guimas Almeida, Dan F. Cutler, Emily R. Eden, Clare E. Futter, Antony Galione, Andre R. A. Marques, Diego Luis Medina, Gennaro Napolitano, Carmine Settembre, Otilia V. Vieira, Johannes M. F. G. Aerts, Peace Atakpa-Adaji, Gemma Bruno, Antonella Capuozzo, Elvira De Leonibus, Chiara Di Malta, Cristina Escrevente, Alessandra Esposito, Paolo Grumati, Michael J. Hall, Rita O. Teodoro, Susana S. Lopes, J. Paul Luzio, Jlenia Monfregola, Sandro Montefusco, Frances M. Platt, Roman Polishchuck, Maria De Risi, Irene Sambri, Chiara Soldati, Miguel C. Seabra
Summary: This review presents current methods used to analyze lysosome morphology, positioning, motility, and function, discussing the strategies for identifying and assessing lysosome characteristics and functions. It aims to stimulate further research on lysosomes and encourage groundbreaking discoveries on this intriguing organelle that continues to surprise and excite cell biologists.
Article
Biochemistry & Molecular Biology
Rebecca E. Katzy, Maria J. Ferraz, Marc Hazeu, Hermen S. Overkleeft, Johannes M. F. G. Aerts
Summary: Glycosphingolipids (GSLs) play diverse roles in cells and abnormalities in their metabolism are associated with specific pathologies. Accurately measuring the in situ metabolism of GSLs and the modulatory impact of drugs is important for therapeutic purposes. In this study, the researchers developed a method using isotope-labelled precursors combined with liquid chromatography-mass spectrometry (MS)/MS analysis to monitor the de novo synthesis of glucosylceramide, which is a precursor of complex GSLs.
Article
Chemistry, Multidisciplinary
Ken Kok, Chi-Lin Kuo, Rebecca E. Katzy, Lindsey T. Lelieveld, Liang Wu, Veronique Roig-Zamboni, Gijsbert A. van der Marel, Jeroen D. C. Codee, Gerlind Sulzenbacher, Gideon J. Davies, Herman S. Overkleeft, Johannes M. F. G. Aerts, Marta Artola
Summary: This study reports a new class of reversible alpha-glucosidase inhibitors that mimic the conformation of the substrate, showing excellent enzyme inhibitory activity. These inhibitors possess selectivity towards specific glucosidases and demonstrate good stability and efficacy in cell and animal experiments, offering a promising alternative treatment for Pompe disease.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
(2022)
Correction
Biochemistry & Molecular Biology
Q. Su, S. P. Schroder, L. T. Lelieveld, M. J. Ferraz, M. Verhoek, R. G. Boot, H. S. Overkleeft, J. M. F. G. Aerts, M. Artola, C. -L. Kuo
Correction
Biochemistry & Molecular Biology
Qin Su, Sybrin P. Schroder, Lindsey T. Lelieveld, Maria J. Ferraz, Marri Verhoek, Rolf G. Boot, Herman S. Overkleeft, Johannes M. F. G. Aerts, Marta Artola, Chi-Lin Kuo
Review
Genetics & Heredity
A. Dardis, H. Michelakakis, P. Rozenfeld, K. Fumic, J. Wagner, E. Pavan, M. Fuller, S. Revel-Vilk, D. Hughes, T. Cox, J. Aerts, Int Working Grp Gaucher Dis IWGGD
Summary: This article provides an overview of Gaucher disease (GD) and discusses the challenges and gaps in GD diagnosis. To ensure timely and accurate diagnosis for patients with GD, evidence-based guidelines for the technical implementation and interpretation of biochemical and genetic testing have been developed. The guidelines aim to promote equitable access to GD diagnosis and standardize procedures.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Multidisciplinary Sciences
Marina Moraitou, Georgios Sotiroudis, Nikolaos Papagiannakis, Maria M. J. Ferraz, Aristotelis Xenakis, Johannes M. F. G. Aerts, Leonidas Stefanis, Helen Michelakakis
Summary: It is well established that patients with Gaucher disease, as well as carriers of the disease, have an increased risk for developing Parkinson's disease. The link between Gaucher disease and Parkinson's disease is the disturbed alpha-Synuclein homeostasis. In this study, alpha-Synuclein in red blood cell membranes was investigated in Gaucher disease patients, carriers, and patients undergoing Enzyme Replacement Therapy.
Article
Endocrinology & Metabolism
Eline C. B. Eskes, Martijn J. C. van der Lienden, Barbara Sjouke, Laura van Vliet, Marion M. M. G. Brands, Carla E. M. Hollak, Johannes M. F. G. Aerts
Summary: Plasma levels of GPNMB, a glycoprotein, were found to be elevated in ASMD patients and may serve as a potential biomarker for ASMD. GPNMB levels differed significantly between ASMD patients with mild to moderate visceral disease and those with severe visceral disease.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Chemistry, Multidisciplinary
Daniel van der Gracht, Rhianna J. Rowland, Veronique Roig-Zamboni, Maria J. Ferraz, Max Louwerse, Paul P. Geurink, Johannes M. F. G. Aerts, Gerlind Sulzenbacher, Gideon J. Davies, Herman S. Overkleeft, Marta Artola
Summary: Lysosomal exoglycosidases are responsible for processing endocytosed glycans from the non-reducing end, and genetic mutations in these enzymes can cause lysosomal storage disorders. Developing effective therapeutic modalities to treat these diseases is a major objective in biomedicine. This study focuses on the development of screening assays to discover effective inhibitors for specific lysosomal glucosidases, with the aim of developing pharmacological chaperone therapeutics.
Meeting Abstract
Biotechnology & Applied Microbiology
Jolanda M. P. Liefhebber, Giso Brasser, Ilma Revers, Lieke Paerels, Maria J. Ferraz, Roelof Ottenhoff, Lukas K. Schwarz, Giorgia Squeri, Ines L. Pereira, Leonie Allart, Shrijana Tripathi, Nikoleta Efthymiopoulou, Greg Dobrynin, Paula S. Montenegro-Miranda, Carlie J. M. de Vries, Johannes M. F. G. Aerts, Ying Poi Liu