Review
Biochemistry & Molecular Biology
Yoshitoshi Kasuya, Jun-Dal Kim, Masahiko Hatano, Koichiro Tatsumi, Shuichi Matsuda
Summary: Idiopathic pulmonary fibrosis (IPF) is a severe progressive fibrotic lung disease with a poor prognosis, necessitating a deep understanding of molecular mechanisms for potential therapeutic advancements. Various cell types and stress-activated protein kinases (SAPKs) play crucial roles in the pathogenesis of pulmonary fibrosis, with potential therapeutic implications.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Ka-Kui Chan, Zahi Abdul-Sater, Aditya Sheth, Dana K. Mitchell, Richa Sharma, Donna M. Edwards, Ying He, Grzegorz Nalepa, Steven D. Rhodes, D. Wade Clapp, Elizabeth A. Sierra Potchanant
Summary: The study reveals the dependence of FANCA-deficient cells on SIK2 for survival, suggesting a potential for targeting SIK2 in FA-disrupted cancers.
MOLECULAR ONCOLOGY
(2022)
Article
Cell Biology
Xiang-Ke Chen, Zhen-Ni Yi, Jack Jark-Yin Lau, Alvin Chun-Hang Ma
Summary: This study investigated the functions of six core atg genes in vertebrate definitive hematopoiesis using zebrafish as a model. The results showed that different atg gene mutations led to varying types and degrees of hematopoietic abnormalities, further revealing the importance of atg genes in definitive hematopoiesis.
Article
Cell Biology
Seok-Won Jang, Jung Min Kim
Summary: The Fanconi anemia (FA) DNA repair pathway plays an important role in maintaining genome integrity, as well as in DNA inter-strand crosslink (ICL) repair and stabilizing stalled replication forks. In FA-deficient cells, inhibition of replication protein A (RPA) activates the FA pathway and enhances cellular sensitivity to cisplatin.
Article
Multidisciplinary Sciences
Carla Umansky, Agustin E. Morellato, Matthias Rieckher, Marco A. Scheidegger, Manuela R. Martinefski, Gabriela A. Fernandez, Oleg Pak, Ksenia Kolesnikova, Hernan Reingruber, Mariela Bollini, Gerry P. Crossan, Natascha Sommer, Maria Eugenia Monge, Bjorn Schumacher, Lucas B. Pontel
Summary: Formaldehyde (FA) not only exerts cytotoxicity through DNA damage, but also triggers cellular redox imbalance by reacting with glutathione (GSH). GSH synthesis and the enzyme alcohol dehydrogenase 5 (ADH5) play crucial roles in preventing FA cytotoxicity. These findings are important for patients with mutations in FA detoxification systems and suggest potential therapeutic benefits of thiol-rich antioxidants.
NATURE COMMUNICATIONS
(2022)
Article
Pediatrics
Tomasz Jarmolinski, Monika Rosa, Blanka Rybka, Renata Ryczan-Krawczyk, Kornelia Gajek, Katarzyna Bogunia-Kubik, Maja Klaudel-Dreszler, Piotr Czubkowski, Piotr Kalicinski, Joanna Teisseyre, Marek Stefanowicz, Ewa Gorczynska, Krzysztof Kalwak, Marek Ussowicz
Summary: A child with Fanconi anemia underwent orthotopic liver transplantation (OLT) after hematopoietic stem cell transplantation (HSCT) complicated by acute graft versus host disease (GVHD). The liver can serve as a clinically significant source of hematopoietic stem cells. Close monitoring of hematopoietic chimerism after OLT is necessary in patients at risk for complications such as GVHD.
FRONTIERS IN PEDIATRICS
(2022)
Article
Immunology
Ira Phadke, Marie Pouzolles, Alice Machado, Josquin Moraly, Pedro Gonzalez-Menendez, Valerie S. Zimmermann, Sandrina Kinet, Mark Levine, Pierre-Christian Violet, Naomi Taylor
Summary: The deficiency of vitamin C significantly impacts hematopoiesis, especially in the perinatal period, leading to a reduction in bone marrow cells and hematopoietic stem cells. Different subsets of myeloid progenitors have different sensitivity to vitamin C levels. Both perinatal and adult erythropoiesis are sensitive to vitamin C deprivation and can trigger splenic compensatory differentiation.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Cell Biology
Melissa Thomas, Caroline Dubacq, Elise Rabut, Bernard S. Lopez, Josee Guirouilh-Barbat
Summary: Homologous recombination (HR) is an evolutionarily conserved pathway that plays a crucial role in genome plasticity. RAD51, through its canonical catalytic strand invasion/exchange activity, is a key player in HR. However, the invalidation of RAD51 is not classified as cancer-prone, indicating other noncanonical roles of RAD51. These roles include preventing mutagenic DNA repair, involvement in replication fork management, participation in RNA-mediated processes, and contribution to brain development.
Review
Medicine, General & Internal
Oystein Bruserud, Anh Khoi Vo, Hakon Rekvam
Summary: Anemia and systemic signs of inflammation are common in elderly individuals and are associated with decreased survival. The underlying biological context for these conditions includes the hallmarks of aging and altered inflammatory and immune function.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Gastroenterology & Hepatology
Benno Traub, Aileen Roth, Marko Kornmann, Uwe Knippschild, Joachim Bischof
Summary: Pancreatic cancer is a devastating disease with poor survival rates, prompting the need for new therapeutic approaches. Protein kinases play crucial roles in development and pathogenesis, making them potential targets for precision medicine in patients with deregulated kinase pathways.
WORLD JOURNAL OF GASTROENTEROLOGY
(2021)
Article
Genetics & Heredity
Ricardo Errazquin, Esther Sieiro, Pilar Moreno, Maria Jose Ramirez, Corina Lorz, Jorge Peral, Jessica Ortiz, Jose Antonio Casado, Francisco J. Roman-Rodriguez, Helmut Hanenberg, Paula Rio, Jordi Surralles, Carmen Segrelles, Ramon Garcia-Escudero
Summary: The study describes the generation and characterization of FANCA-mutant cell clones in head and neck squamous cell carcinoma cell lines using CRISPR/Cas9 editing. The mutant cells exhibit sensitivity to DNA interstrand crosslink agents and display phenotypes associated with Fanconi anemia.
Article
Biochemistry & Molecular Biology
Natasha M. Nesbitt, Lisa E. Malone, Zhaoyan Liu, Alexander Jares, Dmitri V. Gnatenko, Yupo Ma, Wei Zhu, Wadie F. Bahou
Summary: The cytoprotective functions of heme oxygenases involve the generation of carbon monoxide, ferrous iron, and bilirubin, with downstream biliverdin reductases playing a key role in cellular protection, especially in stress hematopoiesis. Blvrb is identified as a crucial driver in stress cytoprotection and redox-regulated lineage partitioning in erythroid/megakaryocyte lineage speciation.
FREE RADICAL BIOLOGY AND MEDICINE
(2021)
Article
Hematology
Leif S. Ludwig, Caleb A. Lareau, Erik L. Bao, Nan Liu, Taiju Utsugisawa, Alex M. Tseng, Samuel A. Myers, Jeffrey M. Verboon, Jacob C. Ulirsch, Wendy Luo, Christoph Muus, Claudia Fiorini, Meagan E. Olive, Christopher M. Vockley, Mathias Munschauer, Abigail Hunter, Hiromi Ogura, Toshiyuki Yamamoto, Hiroko Inada, Shinichiro Nakagawa, Shuichi Ohzono, Vidya Subramanian, Roberto Chiarle, Bertil Glader, Steven A. Carr, Martin J. Aryee, Anshul Kundaje, Stuart H. Orkin, Aviv Regev, Timothy L. McCavit, Hitoshi Kanno, Vijay G. Sankaran
Summary: By studying missense mutations in an intrinsically disordered region of GATA1, this study reveals the important role of this region in transcriptional regulation and demonstrates how these mutations can affect GATA1's transcriptional activity, leading to imbalanced gene expression and abnormal red cell production.
Article
Biology
Xavier Taylor, Pablo Cisternas, Nur Jury, Pablo Martinez, Xiaoqing Huang, Yanwen You, Javier Redding-Ochoa, Ruben Vidal, Jie Zhang, Juan Troncoso, Cristian A. Lasagna-Reeves
Summary: Injured endothelial cells can induce neurotoxic astrocytes characterized by genetic signatures associated with extracellular matrix remodeling. These astrocytes, activated by endothelial cells, are distinct from those activated by other cell types and are associated with vascular amyloid deposits.
COMMUNICATIONS BIOLOGY
(2022)
Article
Cell Biology
Roberta Bottega, Silvia Ravera, Luisa M. R. Napolitano, Viviana Chiappetta, Nicoletta Zini, Barbara Crescenzi, Silvia Arniani, Michela Faleschini, Giuseppe Cortone, Flavio Faletra, Barbara Medagli, Fabio Sirchia, Martina Moretti, Job de Lange, Enrico Cappelli, Cristina Mecucci, Silvia Onesti, Francesca M. Pisani, Anna Savoia
Summary: Warsaw breakage syndrome (WABS), caused by biallelic mutations of DDX11, results in impaired DNA helicase function and increased chromosomal fragmentation. Phenotypic features partially overlap with Fanconi anemia cells, and further examination reveals altered mitochondrial functionality in WABS cells. This sheds light on impaired mitochondrial phenotype and the pathogenesis of these diseases.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
