Review
Biochemistry & Molecular Biology
Shinya Ito, Kazuhiro Nagata
Summary: Collagen, the most abundant protein in mammals, has a unique triple-helical structure formed by Gly-Xaa-Yaa repeats, crucial for its functions such as bone strength and signal transduction. The quality control of collagen biosynthesis in the endoplasmic reticulum is maintained by heat shock protein 47, mutations affecting this process can lead to collagen destabilization and degradation.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 90, 2021
(2021)
Article
Biochemistry & Molecular Biology
Nadia Garibaldi, Barbara M. Contento, Gabriele Babini, Jacopo Morini, Stella Siciliani, Marco Biggiogera, Mario Raspanti, Joan C. Marini, Antonio Rossi, Antonella Forlino, Roberta Besio
Summary: The chemical chaperone 4-phenylbutyrate (4-PBA) has been shown to improve osteoblast homeostasis and bone matrix quality in osteogenesis imperfecta (OI), indicating its potential as a treatment for OI.
Article
Endocrinology & Metabolism
Lindsey Nicol, Priya Srikanth, Kim Henriksen, Shu Sun, Rosamund Smith, Morten A. Karsdal, Sandesh C. S. Nagamani, Jay Shapiro, Brendan Lee, Benjamin Z. Leder, Eric Orwoll
Summary: Osteogenesis imperfecta (OI) is a hereditary disorder caused by abnormalities in type I collagen synthesis or processing, characterized by skeletal fragility and possibly extra-skeletal manifestations. Teriparatide therapy has abnormal effects on the homeostasis of multiple extracellular matrix collagens in OI patients compared to postmenopausal women.
Article
Biochemistry & Molecular Biology
Haiyan Cai, Parvathy Sasikumar, Gemma Little, Dominique Bihan, Samir W. Hamaia, Aiwu Zhou, Jonathan M. Gibbins, Richard W. Farndale
Summary: Research revealed that HSP47 primarily binds to a few GXR motifs in collagen, with most binding sites located near the N-terminal part of the triple-helical region. Molecular modelling and binding energy calculation showed that residues flanking the key Arg in collagen play a crucial role in defining the high-affinity HSP47 binding sites.
Article
Endocrinology & Metabolism
Ivan Duran, Jennifer Zieba, Fabiana Csukasi, Jorge H. Martin, Davis Wachtell, Maya Barad, Brian Dawson, Bohumil Fafilek, Christina M. Jacobsen, Catherine G. Ambrose, Daniel H. Cohn, Pavel Krejci, Brendan H. Lee, Deborah Krakow
Summary: Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and deformities. Endoplasmic reticulum (ER) stress has been identified as a contributing factor to OI pathogenesis. In this study, treatment with the chemical chaperone 4-phenylbutiric acid (4-PBA) was found to alleviate the phenotype of OI in mice, leading to improved growth, bone density, and reduced ER stress markers.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Chemistry, Multidisciplinary
Laura Gorrell, Elena Makareeva, Shakib Omari, Satoru Otsuru, Sergey Leikin
Summary: Cellular response to protein misfolding is associated with multiple diseases. This study on a G610C mouse model of osteogenesis imperfecta (OI) reveals how osteoblasts respond to the accumulation of misfolded procollagen in the endoplasmic reticulum (ER) and how this response affects their function. Surprisingly, misfolded procollagen bypasses ER quality control and indirectly triggers the integrated stress response (ISR) through other cellular compartments. The involvement of mitochondrial HSP70 and ATF5 suggests that mitochondria may play a role in initiating or responding to the ISR in OI.
Article
Endocrinology & Metabolism
Brecht Guillemyn, Hanna De Saffel, Jan Willem Bek, Piyanoot Tapaneeyaphan, Adelbert De Clercq, Tamara Jarayseh, Sophie Debaenst, Andy Willaert, Riet De Rycke, Peter H. Byers, Toon Rosseel, Paul Coucke, Bettina Blaumeiser, Delfien Syx, Fransiska Malfait, Sofie Symoens
Summary: This study reports a mutation in the gene STX18, which is associated with cartilage and bone development and may cause a new form of recessive osteochondrodysplasia. The role of Stx18 in cartilage and bone development was demonstrated through experiments using a zebrafish model, and the deficiency of Stx18 was found to impair vesicular transport.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Gregoire Andre, Antoine Chretien, Antoine Demoulin, Melanie Beersaerts, Pierre-Louis Docquier, Catherine Behets
Summary: This study investigates the organization of collagen and osteocyte lacunae in the long bones of mice with osteogenesis imperfecta (OI), a rare congenital bone disorder. The findings suggest that the alterations in collagen matrix and osteocyte lacunae organization contribute to bone fragility.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cardiac & Cardiovascular Systems
Benjamin W. Lee, Matthew A. Caporizzo, Christina Y. Chen, Kenneth C. Bedi Jr, Eliot G. Peyster, Benjamin L. Prosser, Kenneth B. Margulies, Alexia Vite
Summary: This study investigates the properties of heart tissue and cardiomyocytes in osteogenesis imperfecta (OI). The findings suggest that OI cardiomyocytes adapt to low stiffness but exhibit impaired response under pathological stiffness, potentially indicating compromised stress response.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
(2023)
Review
Endocrinology & Metabolism
Aaron Schindeler, Lucinda R. Lee, Alexandra K. O'Donohue, Samantha L. Ginn, Craig F. Munns
Summary: This article discusses emerging technologies in cell and gene-targeted therapies, major challenges in implementing these treatment methods, and prospects for their future success in bone disorders.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Yuto Hasegawa, Masanari Motoyama, Akie Hamamoto, Shintaro Kimura, Yuji O. Kamatari, Hiroaki Kamishina, Kentaro Oh-Hashi, Kyoji Furuta, Yoko Hirata
Summary: This paper identifies several novel oxindole compounds that can prevent ER stress- and oxidative stress-induced cell death and suppress protein aggregate accumulation. These compounds also prevent glutamate-induced oxytosis and erastin-induced ferroptosis. The results suggest that these compounds may be useful therapeutics against protein-misfolding diseases and valuable research tools for studying the molecular mechanisms of ER and oxidative stress.
ACS CHEMICAL NEUROSCIENCE
(2022)
Article
Endocrinology & Metabolism
L. E. Nicol, R. F. Coghlan, D. Cuthbertson, Sandesh C. S. Nagamani, B. Lee, R. C. Olney, W. Horton, E. Orwoll
Summary: Abnormalities in type I collagen can cause osteogenesis imperfecta, leading to bone fragility and growth retardation. Levels of type X collagen (CXM) are correlated with growth rate, with children with OI showing greater variability in CXM levels compared to controls. This disruption suggests dysfunction in the hypertrophic zone and skeletal growth endpoint in OI patients.
Article
Medicine, Research & Experimental
Ahmed El-Gazzar, Barbara Voraberger, Frank Rauch, Mario Mairhofer, Katy Schmidt, Brecht Guillemyn, Goran Mitulovic, Veronika Reiterer, Margot Haun, Michaela M. Mayr, Johannes A. Mayr, Susanne Kimeswenger, Oliver Drews, Vrinda Saraff, Nick Shaw, Nadja Fratzl-Zelman, Sofie Symoens, Hesso Farhan, Wolfgang Hoegler
Summary: Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass caused by defects in collagen structure. A missense mutation in SEC16B was identified in a child with features of OI, and this mutation led to defective collagen trafficking and ER stress. This study suggests that SEC16B may be a recessive candidate gene for OI, and its reduced expression leads to the pathogenesis of the disease.
EMBO MOLECULAR MEDICINE
(2023)
Review
Surgery
Michella Dirani, Victor D. Cuenca, Vanessa I. Romero
Summary: This study describes the first clinical description of a patient with OI type 1 caused by a splice variant in intron 34 of the COL1A1 gene, and identifies that most of these variants are located in the triple-helical region domain. We suggest that the splice variants in the signal peptide, von Willebrand factor type C, and nonhelical regions maintain their functionality, or that individuals affected with severe cases die early in development and are not reported.
FRONTIERS IN SURGERY
(2022)
Article
Neurosciences
Milena Dimori, Jordan Fett, Sergey Leikin, Satoru Otsuru, Jeff D. Thostenson, John L. Carroll, Roy Morello
Summary: Collagen alterations in osteogenesis imperfecta (OI) lead to severe bone fragility and can cause lung and respiratory function defects. This study investigated the extent of pulmonary and respiratory mechanics defects in mouse models of OI, and found a correlation between the severity of extracellular matrix deficiency and lung morphology and function. The respiratory defects were also more pronounced in male mice. Further research is needed to determine if these findings apply to OI patients and to understand the contribution of intrinsic lung defects and extrinsic skeletal defects to impaired lung function in OI.
JOURNAL OF PHYSIOLOGY-LONDON
(2023)
Article
Biochemistry & Molecular Biology
Soojung Hahn, Gyuri Kim, Sang-Man Jin, Jae Hyeon Kim
Summary: This study utilized three-dimensional intestinal organoids to investigate the effects of metformin on inflammatory bowel disease (IBD) and found that metformin can enhance intestinal barrier function and reduce levels of inflammatory cytokines.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
V. V. Sudarev, M. S. Gette, S. V. Bazhenov, O. M. Tilinova, E. V. Zinovev, I. V. Manukhov, A. I. Kuklin, Yu. L. Ryzhykau, A. V. Vlasov
Summary: This study investigated the self-assembly processes of ferritin-based protein complexes and obtained structurally characterized oligomeric states. These results provide new potential and opportunities for the application of ferritin in various fields.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
Yalda Sabaghi, Farnaz Pourfarzad, Leila Zolghadr, Azita Bahrami, Tahereh Shojazadeh, Alireza Farasat, Nematollah Gheibi
Summary: p-Coumaric acid (p-CA) is a plant compound with anti-cancer activities. This study designed a nano-liposomal carrier containing p-CA to enhance its effectiveness against melanoma cells. The findings showed that the liposomal form of p-CA had a greater impact on the cells. Kinetic modeling indicated that the best fitting model was zero-order.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
M. D. Nazmul Hasan, Md Mahfuzur Rahman, Al Asmaul Husna, Nobuhiro Nozaki, Osamu Yamato, Naoki Miura
Summary: This study investigated the expression of ncRNAs other than miRNAs in different histologic subtypes of canine mammary gland tumors (MGT). Three aberrantly expressed ncRNAs were identified as potential biomarkers for differentiating MGT subtypes. YRNA and tRFs expression levels were found to be decreased in metastatic compared to primary MGT cell lines.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
Seine A. Shintani
Summary: In this study, the researchers used signal analysis to study the instantaneous amplitude and phase of sarcomeric oscillations in skeletal muscle. They identified two types of oscillations, sarcomeric oscillations and sarcosynced oscillations, and visualized their behavior during propagating waves. The researchers discovered the presence of sarcomeric defect holes and sarcomeric collision holes, which are important indicators for understanding the oscillation properties of sarcomeres. This finding has important implications for improving our understanding of muscle function and its regulatory mechanisms.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
Shuanglin Zhang, Yuzhong Jia, Guolan Ma, Yanyan Yang, Zhenzhen Cao, Antao Luo, Zefu Zhang, Shihan Li, Jie Wen, Hanfeng Liu, Jihua Ma
Summary: Bupleurum is an antiarrhythmic agent that may exert its effects by inhibiting L-type calcium channels.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
Tomotaka Ohkubo, Yasuhiko Matsumoto, Hiroaki Sasaki, Kaoru Kinoshita, Yuki Ogasawara, Takashi Sugita
Summary: This study found that Citrobacter koseri inhibits the growth of Staphylococcus epidermidis, disrupting the balance between S. epidermidis and Staphylococcus aureus, and exacerbating inflammation in atopic dermatitis.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
Toshifumi Asano, Philipp Sasse, Takao Nakata
Summary: A Cre recombination-based fluorescent reporter system was developed to monitor cell-cell fusion. The system successfully detected the formation of multinuclear myotubes and placental syncytiotrophoblast. This tool could facilitate the study of cell-to-cell fusion.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
Ke Shi, Yunlong Shan, Xiao Sun, Kuida Chen, Qiong Luo, Qiang Xu
Summary: This study found that low expression of TP53INP2 is associated with poor survival in colorectal cancer (CRC) patients. As the malignancy of CRC progresses, TP53INP2 expression gradually decreases. Knockdown of TP53INP2 promotes CRC cell proliferation and tumor growth. Mechanistically, TP53INP2 deficiency decreases phosphorylation of beta-catenin, leading to increased accumulation and enhanced nuclear translocation and transcriptional activity. Additionally, TP53INP2 sequesters TIM50, inhibiting its activation of beta-catenin. In conclusion, downregulation of TP53INP2 promotes CRC progression by activating beta-catenin.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
Martina Rossi, Fabio Tomaselli, Alejandro Hochkoeppler
Summary: Oligomeric enzymes are known for their higher catalytic rates compared to monomeric enzymes, but the extent of additivity in their activity is still not well understood. This study used tetrameric rabbit lactate dehydrogenase as a model to examine the kinetics of its catalytic action. Surprisingly, when the concentration of the limiting reactant exceeded that of a single subunit, there was a significant slowdown in the enzyme's conformational rearrangements.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
Amin Sahraei, Mohammad Javad Shamsoddini, Fakhrossadat Mohammadi, Leila Hassani
Summary: This study explored the inhibitory effects of gallium curcumin, indium curcumin, and vanadyl curcumin on the amyloid fibrillation of hen egg white lysozyme, as well as the binding interactions of these metal complexes with the enzyme. The results showed that indium curcumin and vanadyl curcumin exhibited higher binding affinities and stronger inhibitory effects on amyloid fibrillation compared to gallium curcumin.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
Takahiro Sasaki, Yoshiki Kuse, Shinsuke Nakamura, Masamitsu Shimazawa
Summary: PGRN deficiency plays a significant role in cardiac remodeling and arrhythmias post-myocardial infarction (MI), potentially by promoting metabolic abnormalities in macrophages.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
Hongwei Zhao, Yiqiang Li, Yibo Zhang, Chi Zhang
Summary: Electrical brain stimulation technology is commonly used to treat brain neurological disorders, but it can cause side effects. This study investigated the impact of electric fields on nerve fibers and revealed the possible origin of side effects. The findings provide guidance for selecting electrical parameters in clinical stimulation therapy.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
Julia S. Scott, Lake-Ee Quek, Andrew J. Hoy, Johannes V. Swinnen, Zeyad D. Nassar, Lisa M. Butler
Summary: The fatty acid elongation enzyme ELOVL5 plays a critical role in promoting metastasis in prostate cancer. Knocking down ELOVL5 leads to the accumulation of malonyl-CoA, which inhibits fatty acid oxidation in mitochondria. This study highlights the importance of fatty acid elongation in regulating cell viability and provides a potential target for prostate cancer treatment.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)
Article
Biochemistry & Molecular Biology
Zan Zhou, Wen-jun Jiang, Li Li, Jun-qiang Si
Summary: This study investigates the effect of noise exposure on cognitive function in mice and explores the underlying molecular mechanisms. The findings suggest that noise exposure leads to increased inflammation, increased phosphorylation of Tau protein, and decreased levels of postsynaptic density protein, resulting in cognitive impairment.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2024)