Article
Pharmacology & Pharmacy
Ameya J. Limaye, Matthew K. Whittaker, George N. Bendzunas, John K. Cowell, Eileen J. Kennedy
Summary: WASF proteins regulate the dynamics of the actin cytoskeleton, playing a crucial role in cancer metastasis and invasion. The WASF3 regulatory complex correlates with metastatic potential and survival rate, suggesting that targeting the complex may be a novel strategy for suppressing metastasis.
PHARMACOLOGICAL RESEARCH
(2022)
Article
Immunology
Katherine E. Herman, Takeshi Yoshida, Angela Hughson, Alex Grier, Steven R. Gill, Lisa A. Beck, Deborah J. Fowell
Summary: Wiskott-Aldrich Syndrome is characterized by recurrent infections, thrombocytopenia, and eczema. WASp-deficient mice show dysregulated immune homeostasis and barrier dysfunction in the skin, with increased leukocyte accumulation and skin dysbiosis. IL-17 plays a critical role in skin immune infiltration and elevation of Type 2 and Type 17 cytokines.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Jiali Jiang, Junli Zhou, Manlv Wei, Sanjeev Singh, Lauriane Nikuze, Lifang Huang, Yuping Li, Jinxia Jiang, Hongying Wei
Summary: Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disease characterized by thrombocytopenia, eczema, immunodeficiency, and increased risk of malignant tumors, with two main types determined by the severity of mutations. This article reviewed and analyzed clinical and immune characteristics of five unrelated Chinese families with WAS, identifying new mutations and furthering understanding of the disease.
SCANDINAVIAN JOURNAL OF IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Juanjuan Zhou, Quanmei Yan, Chengcheng Tang, Yuan Liao, Quanjun Zhang, Xiaomin Wang, Xiaoqing Zhou, Liangxue Lai, Qingjian Zou
Summary: A WAS knockout rabbit model with symptoms similar to WAS patients has been successfully generated, providing a new valuable tool for preclinical trials of WAS treatment.
Article
Hematology
Sergei I. Obydennyi, Sofya A. Kuznetsova, Olga S. Fedyanina, Anna Khoreva, Kirill Voronin, Alexey V. Mazurov, Anna A. Glukhova, Elena O. Artemenko, Fazoil I. Ataullakhanov, Alexey A. Maschan, Galina A. Novichkova, Anna Shcherbina, Mikhail A. Panteleev
Summary: Wiskott-Aldrich syndrome (WAS) is a genetic disorder caused by mutations in the WAS gene, leading to defects in haematopoietic/immune cells. Recent studies have shown increased death of platelets and lymphocytes in WAS patients. This study investigates the viability and morphology of megakaryocytes (MKs) in WAS patients compared to healthy controls.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Editorial Material
Hematology
Susan E. Prockop
Summary: In this article, the authors demonstrate that a standardized treatment approach combined with novel composite end points can establish a standard of care for boys with this rare nonmalignant disorder even in the absence of prospective trials.
Article
Immunology
Chunlin Wang, Klarke M. Sample, Babu Gajendran, Philipp Kapranov, Wuling Liu, Anling Hu, Eldad Zacksenhaus, Yanmei Li, Xiaojiang Hao, Yaacov Ben-David
Summary: The study identified FLI1 as a key transcriptional regulator of WAS and its binding partner WIP in regulating megakaryocyte differentiation. WASP and N-WASP cooperatively control megakaryocytic cell fate, with distinct effects on leukemic cell proliferation.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Cell Biology
Fangfang Liang, Cheng Peng, Xianze Luo, Linlin Wang, Yanyan Huang, Le Yin, Luming Yue, Jun Yang, Xiaodong Zhao
Summary: This study utilized single-cell RNA sequencing to analyze the immune cells in the spleen of WAS-KO mice. Various immune cell types and key genes were identified, laying a foundation for further research on WAS and gene therapies.
CELLULAR IMMUNOLOGY
(2023)
Article
Immunology
Caroline Khanna, Carole Le Coz, Courtney Vaccaro, Piyush Pillarisetti, Ainsley V. C. Knox, Andrew Sy, Edward M. Behrens, David Buchbinder, Neil Romberg
Summary: This study reports a novel germline frameshifting mutation in a WAS patient, leading to the loss of expression of WASP Delta CA. Deep sequencing and protein degradation analysis revealed a variety of genetic, epigenetic, and proteasomal strategies employed by patient lymphocytes to avoid expressing WASP Delta CA.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Review
Immunology
Riccardo Papa, Federica Penco, Stefano Volpi, Marco Gattorno
Summary: An increasing number of monogenic immune-mediated diseases are linked to genes associated with actin cytoskeleton remodeling pathways. These diseases range from pure autoinflammatory conditions to primary immunodeficiencies, with a common theme of cytoskeleton defects. This emerging field provides immunologists with new insights into the physiological and pathological roles of actin cytoskeleton in immune cells.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Aaron D. Rosenbloom, Thomas D. Pollard
Summary: Members of the WASp protein family activate Arp2/3 complex to form actin filament branches; the proline-rich domain (PRD) of WASp and Las17 binds actin filaments; the PRD of Wsp1p binds actin filaments with high affinity, contributing to actin filament branching.
Article
Immunology
Yoji Sasahara, Taizo Wada, Tomohiro Morio
Summary: Patients with classical Wiskott-Aldrich syndrome (WAS) and leukocyte adhesion deficiency (LAD) type 1 showed lower levels of Th1 and Th2 cytokine production following exposure to antigen-presenting cells, with distinct clinical symptoms associated with each disease.
CLINICAL IMMUNOLOGY
(2022)
Article
Multidisciplinary Sciences
Nikki Agarwal, Divyaswathi Citla Sridhar, Sindhoosha Malay, Nirav Patil, Anjali Shekar, Sanjay Ahuja, Jignesh Dalal
Summary: The study showed that transplant is the main contributor to healthcare utilization in WAS patients, and there are healthcare disparities based on race and socioeconomic status. Non-transplant patients were more likely to have lymphomas, ulcerative colitis, and autoimmune complications.
SCIENTIFIC REPORTS
(2021)
Article
Hematology
Anna Khoreva, Irina Abramova, Elena Deripapa, Yulia Rodina, Anna Roppelt, Dmitry Pershin, Sergey Larin, Kirill Voronin, Alexey Maschan, Galina Novichkova, Anna Shcherbina
Summary: This study demonstrates that romiplostim treatment can effectively increase platelet counts and reduce the risk of bleeding in WAS patients, with a significant decrease in hemorrhagic events even in non-responder group after the first month of treatment. The treatment responses tend to be durable and stable over time, with no significant fluctuations in platelet counts.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Gabriela Ortiz-Soto, Natalia S. Babilonia-Diaz, Mercedes Y. Lacourt-Ventura, Delmarie M. Rivera-Rodriguez, Jailenne I. Quinones-Rodriguez, Monica Colon-Vargas, Israel Almodovar-Rivera, Luis E. Ferrer-Torres, Ivette J. Suarez-Arroyo, Michelle M. Martinez-Montemayor
Summary: Inflammatory breast cancer (IBC) is a lethal subtype of breast cancer, comprising 1-5% of all cases. This study confirms the overexpression of metadherin (MTDH) in IBC cells and reveals its crucial role in IBC progression, including signaling pathway regulation and tumor growth promotion. CRISPR/Cas9 editing of IBC cells shows that the absence of MTDH significantly reduces cell migration, proliferation, and tumor spheroid formation, as well as the expression of key signaling molecules in IBC. Additionally, IBC xenografts exhibit distinct tumor growth patterns and phenotypes in lung tissue. These findings highlight MTDH as a potential therapeutic target for IBC.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Bin Wu, Veronika Miskolci, Hanae Sato, Evelina Tutucci, Charles A. Kenworthy, Sara K. Donnelly, Young J. Yoon, Dianne Cox, Robert H. Singer, Louis Hodgson
GENES & DEVELOPMENT
(2015)
Review
Biochemistry & Molecular Biology
Kessler McCoy-Simandle, Samer J. Hanna, Dianne Cox
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
(2016)
Article
Medicine, Research & Experimental
Erin Janssen, Mira Tohme, Mona Hedayat, Marion Leick, Sudha Kumari, Narayanaswamy Ramesh, Michel J. Massaad, Sumana Ullas, Veronica Azcutia, Christopher C. Goodnow, Katrina L. Randall, Qi Qiao, Hao Wu, Waleed Al-Herz, Dianne Cox, John Hartwig, Darrell J. Irvine, Francis W. Luscinskas, Raif S. Geha
JOURNAL OF CLINICAL INVESTIGATION
(2016)
Article
Immunology
Veronika Miskolci, Bin Wu, Yasmin Moshfegh, Dianne Cox, Louis Hodgson
JOURNAL OF IMMUNOLOGY
(2016)
Article
Biochemistry & Molecular Biology
E. Leung, A. Xue, Y. Wang, P. Rougerie, V. P. Sharma, R. Eddy, D. Cox, J. Condeelis
Article
Multidisciplinary Sciences
Samer J. Hanna, Kessler McCoy-Simandle, Veronika Miskolci, Peng Guo, Michael Cammer, Louis Hodgson, Dianne Cox
SCIENTIFIC REPORTS
(2017)
Article
Cell Biology
Laurel E. Hind, Joanna L. Mackay, Dianne Cox, Daniel A. Hammer
Review
Immunology
Pablo Rougerie, Veronika Miskolci, Dianne Cox
IMMUNOLOGICAL REVIEWS
(2013)
Article
Biochemistry & Molecular Biology
Haein Park, Athanassios Dovas, Samer Hanna, Claire Lastrucci, Celine Cougoule, Romain Guiet, Isabelle Maridonneau-Parini, Dianne Cox
JOURNAL OF BIOLOGICAL CHEMISTRY
(2014)
Article
Microscopy
A. Dovas, A. Patsialou, A. S. Harney, J. Condeelis, D. Cox
JOURNAL OF MICROSCOPY
(2013)
Article
Multidisciplinary Sciences
Samer Hanna, Veronika Miskolci, Dianne Cox, Louis Hodgson
Article
Biochemistry & Molecular Biology
Jeanine Pignatelli, Sumanta Goswami, Joan G. Jones, Thomas E. Rohan, Evan Pieri, Xiaoming Chen, Esther Adler, Dianne Cox, Sara Maleki, Anne Bresnick, Frank B. Gertler, John S. Condeelis, Maja H. Oktay
Article
Cell Biology
Samer J. Hanna, Kessler McCoy-Simandle, Edison Leung, Alessandro Genna, John Condeelis, Dianne Cox
JOURNAL OF CELL SCIENCE
(2019)
Article
Oncology
Alessandro Genna, Camille L. Duran, David Entenberg, John S. Condeelis, Dianne Cox
Summary: Macrophages play a vital role in the progression of breast cancer, particularly in the seeding of metastatic niches. However, the interaction between lung parenchymal macrophages and tumor cells in the vasculature to promote tumor cell extravasation at metastatic sites is not well understood.