Article
Urology & Nephrology
Teresa K. Chen, Aditya L. Surapaneni, Dan E. Arking, Christie M. Ballantyne, Eric Boerwinkle, Jingsha Chen, Josef Coresh, Anna Koettgen, Katalin Susztak, Adrienne Tin, Bing Yu, Morgan E. Grams
Summary: The APOL1 risk variants are associated with kidney disease among Black adults, and this study explores their relationship with the circulating proteome, finding that APOL1 risk variants are strongly associated with lower levels of various proteins.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Editorial Material
Urology & Nephrology
Jeffrey B. Kopp, Jurgen Heymann
Summary: McNulty and colleagues have identified the glomerular transcriptional landscape of individuals with the APOL1 gene. They found that APOL1 gene expression was higher in individuals with a high-risk genetic status for APOL1. Additionally, STC1 and CCL18 were the most upregulated and downregulated genes in the glomeruli, respectively, and NKIRAS1 was identified as the most important hub gene. These findings provide insight into the disease pathways involved in APOL1-associated nephropathies.
KIDNEY INTERNATIONAL
(2022)
Review
Biochemistry & Molecular Biology
Rohan Goyal, Pravin C. Singhal
Summary: The APOL1 gene variants G1 and G2, common in African populations, are associated with increased risk of various glomerular diseases, particularly in the context of HIV infection. Mechanisms driving glomerular injury due to APOL1 RRVs have been elucidated, but there are still significant gaps in their application for patient management.
Article
Urology & Nephrology
Teresa K. Chen, Jessica Fitzpatrick, Cheryl A. Winkler, Elizabeth A. Binns-Roemer, Celia P. Corona-Villalobos, Bernard G. Jaar, Stephen M. Sozio, Rulan S. Parekh, Michelle M. Estrella
Summary: In African American patients initiating hemodialysis, APOL1 high-risk status was associated with better subclinical cardiovascular disease measures but not mortality.
KIDNEY INTERNATIONAL REPORTS
(2021)
Article
Immunology
Junnan Wu, Ziyuan Ma, Archana Raman, Pazit Beckerman, Poonam Dhillon, Dhanunjay Mukhi, Matthew Palmer, Hua Chang Chen, Cassiane Robinson Cohen, Thomas Dunn, John Reilly, Nuala Meyer, Michael Shahaty, Zoltan Arany, Gyorgy Hasko, Krzysztof Laudanski, Adriana Hung, Katalin Susztak
Summary: The incidence and severity of sepsis is higher among individuals of African versus European ancestry, with genetic risk variants in APOL1 associated with increased sepsis incidence and severity. APOL1 levels correlated with sepsis and COVID-19 severity, and targeting the inflammasome and STING pathways may help reduce APOL1-associated endothelial changes in sepsis.
Article
Urology & Nephrology
Justin Chun, Cristian Riella, Hyunjae Chung, Shrijal S. Shah, Minxian Wang, Jose M. Magraner, Guilherme T. Ribas, Hennrique T. Ribas, Jia-Yue Zhang, Seth L. Alper, David J. Friedman, Martin R. Pollak
Summary: This study reveals that lipid metabolism and droplet formation play important roles in modulating the cytotoxicity of APOL1 risk variants. Inhibition of DGAT2 may offer a potential therapeutic strategy to attenuate the cytotoxic effects of APOL1 risk variants.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Urology & Nephrology
Christopher P. Larsen, Terrance J. Wickman, Juarez R. Braga, Luis A. Matute-Trochez, Anna E. Hasty, Lyndsey R. Buckner, John M. Arthur, Randy S. Haun, Juan Carlos Q. Velez
Summary: APOL1 high-risk alleles are associated with greater odds of AKI in Black American patients with COVID-19.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Medicine, General & Internal
Ogo Egbuna, Brandon Zimmerman, George Manos, Anne Fortier, Madalina C. Chirieac, Leslie A. Dakin, David J. Friedman, Kate Bramham, Kirk Campbell, Bertrand Knebelmann, Laura Barisoni, Ronald J. Falk, Debbie S. Gipson, Michael S. Lipkowitz, Akinlolu Ojo, Mark E. Bunnage, Martin R. Pollak, David Altshuler, Glenn M. Chertow
Summary: “This study found that targeted inhibition of APOL1 channel function with inaxaplin can reduce proteinuria in individuals with APOL1 variants and focal segmental glomerulosclerosis. This provides a new option for treating kidney diseases associated with APOL1 variants.”
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Mengyuan Ge, Judith Molina, G. Michelle Ducasa, Shamroop K. Mallela, Javier Varona Santos, Alla Mitrofanova, Jin-Ju Kim, Xiaochen Liu, Alexis Sloan, Armando J. Mendez, Santanu Banerjee, Shaoyi Liu, Hazel H. Szeto, Myung K. Shin, Maarten Hoek, Jeffrey B. Kopp, Flavia Fontanesi, Sandra Merscher, Alessia Fornoni
Summary: The study reveals that the expression of the APOL1 risk variant G1 exacerbates proteinuria and kidney function damage in an FSGS mouse model, leading to lipid accumulation in kidney cortices and impaired renal function. Additionally, expression of APOL1 G1/G2 in human urinary podocytes is associated with increased cellular triglyceride content and mitochondrial dysfunction.
HUMAN MOLECULAR GENETICS
(2021)
Article
Urology & Nephrology
Ninad S. Chaudhary, Hemant K. Tiwari, Bertha A. Hidalgo, Nita A. Limdi, Richard J. Reynolds, Mary Cushman, Neil A. Zakai, Leslie Lange, Suzanne E. Judd, Cheryl A. Winkler, Jeffrey B. Kopp, Orlando M. Gutierrez, Marguerite R. Irvin
Summary: APOL1 high-risk variants are associated with reduced serum albumin levels, but serum albumin does not mediate the association between APOL1 and incident end-stage kidney disease.
AMERICAN JOURNAL OF NEPHROLOGY
(2022)
Article
Hematology
Anne Cornelissen, Daniela T. Fuller, Raquel Fernandez, Xiaoqing Zhao, Robert Kutys, Elizabeth Binns-Roemer, Marco Delsante, Atsushi Sakamoto, Ka Hyun Paek, Yu Sato, Rika Kawakami, Masayuki Mori, Kenji Kawai, Teruhiko Yoshida, Khun Zaw Latt, Clint L. Miller, Paul S. de Vries, Frank D. Kolodgie, Renu Virmani, Myung Kyun Shin, Maarten Hoek, Jurgen Heymann, Jeffrey B. Kopp, Avi Z. Rosenberg, Harry R. Davis, Liang Guo, Aloke V. Finn
Summary: The study found that APOL1 risk alleles are associated with coronary artery disease, with carriers being more prone to thrombotic events. Individuals with 2 APOL1 risk alleles have larger necrotic cores in plaques, suggesting a role of APOL1 in determining plaque stability.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Article
Urology & Nephrology
Nongodo Firmin Kabore, Amandine Cournil, Armel Poda, Laura Ciaffi, Elizabeth Binns-Roemer, Victor David, Sabrina Eymard-Duvernay, Jacques Zoungrana, Aoua Semde, Adrien B. Sawadogo, Sinata Koulla-Shiro, Charles Kouanfack, Ndeye Fatou Ngom-Gueye, Nicolas Meda, Cheryl Winkler, Sophie Limou
Summary: This study aimed to investigate the performance of APOL1 G1 and G2 alleles in PLHIV in West Africa. The results showed that the high-risk alleles of APOL1 gene were more common in PLHIV in West African countries than in Cameroon. Additionally, the study found that virological status may modulate the impact of APOL1 on kidney function.
KIDNEY INTERNATIONAL REPORTS
(2022)
Article
Medicine, General & Internal
Etty Kruzel-Davila, Barbara Mensah Sankofi, Ernestine Kubi Amos-Abanyie, Anita Ghansah, Alexander Nyarko, Seth Agyemang, Gordon A. Awandare, Moran Szwarcwort-Cohen, Anat Reiner-Benaim, Basem Hijazi, Ifeoma Ulasi, Yemi Raheem Raji, Vincent Boima, Charlotte Osafo, Victoria May Adabayeri, Michael Matekole, Timothy O. Olanrewaju, Samuel Ajayi, Manmak Mamven, Sampson Antwi, Adebowale D. Ademola, Jacob Plange-Rhule, Fatiu Arogundade, Priscilla Abena Akyaw, Cheryl A. Winkler, Babatunde L. Salako, Akinlolu Ojo, Karl Skorecki, Dwomoa Adu
Summary: Variants in the APOL1 gene are associated with an increased risk of non-diabetic chronic kidney disease and HIV associated nephropathy. Carrying two APOL1 risk alleles increases the risk of these kidney diseases, as well as HIV infectivity.
FRONTIERS IN MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Jin-Gu Lee, Yulong Fu, Jun-yi Zhu, Pei Wen, Joyce van de Leemput, Patricio E. Ray, Zhe Han
Summary: Using a Drosophila screen, SNARE proteins have been identified as antagonists of APOL1-induced cytotoxicity, providing novel therapeutic targets for APOL1-associated nephropathies.
CELL AND BIOSCIENCE
(2023)
Article
Urology & Nephrology
Mannix Imani Masimango, Michel Jadoul, Elizabeth A. Binns-Roemer, Victor A. David, Ernest Kiswaya Sumaili, Cheryl A. Winkler, Sophie Limou
Summary: APOL1, GSTM1 risk variants, and sickle cell trait (SCT) are associated with chronic kidney disease (CKD) among African Americans (AAs), but there is scarce evidence in sub-Saharan Africa (SSA) populations. Our study highlights the impact of APOL1 and SCT variants on poorer renal outcomes in the Democratic Republic of Congo (DRC) and advocates for further genetic studies in SSA.
KIDNEY INTERNATIONAL REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Xiqian Lan, Hongxiu Wen, Rukhsana Aslam, Seyedeh Shadafarin Marashi Shoshtari, Abheepsa Mishra, Vinod Kumar, Haichao Wang, Guisheng Wu, Huairong Luo, Ashwani Malhotra, Pravin C. Singhal
BIOSCIENCE REPORTS
(2018)
Article
Biochemistry & Molecular Biology
Hongxiu Wen, Vinod Kumar, Xiqian Lan, Seyedeh Shadafarin Marashi Shoshtari, Judith M. Eng, Xiaogang Zhou, Fang Wang, Haichao Wang, Karl Skorecki, Guolan Xing, Guisheng Wu, Huairong Luo, Ashwani Malhotra, Pravin C. Singhal
BIOSCIENCE REPORTS
(2018)
Article
Cell Biology
Vinod Kumar, Kamesh Ayasolla, Alok Jha, Abheepsa Mishra, Himanshu Vashistha, Xiqian Lan, Maleeha Qayyum, Sushma Chinnapaka, Richa Purohit, Joanna Mikulak, Moin A. Saleem, Ashwani Malhotra, Karl Skorecki, Pravin C. Singhal
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2019)
Review
Immunology
Clara Di Vito, Joanna Mikulak, Elisa Zaghi, Silvia Pesce, Emanuela Marcenaro, Domenico Mavilio
SEMINARS IN IMMUNOLOGY
(2019)
Letter
Medicine, General & Internal
Joanna Mikulak, Francesco Dieli, Domenico Mavilio
Review
Immunology
Joanna Mikulak, Elena Bruni, Ferdinando Oriolo, Clara Di Vito, Domenico Mavilio
FRONTIERS IN IMMUNOLOGY
(2019)
Review
Immunology
Clara Di Vito, Joanna Mikulak, Domenico Mavilio
FRONTIERS IN IMMUNOLOGY
(2019)
Editorial Material
Immunology
Joanna Mikulak, Clara Di Vito, Domenico Mavilio
Article
Oncology
Elena Bruni, Valentina Cazzetta, Matteo Donadon, Matteo Cimino, Guido Torzilli, Gianmarco Spata, Gloria Leonardi, Francesco Dieli, Joanna Mikulak, Domenico Mavilio
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2019)
Article
Biochemistry & Molecular Biology
Manuela Valsecchi, Valentina Cazzetta, Ferdinando Oriolo, Xiqian Lan, Rocco Piazza, Moin A. Saleem, Pravin C. Singhal, Domenico Mavilio, Joanna Mikulak, Massimo Aureli
GLYCOCONJUGATE JOURNAL
(2020)
Review
Gastroenterology & Hepatology
Michela Anna Polidoro, Joanna Mikulak, Valentina Cazzetta, Ana Lleo, Domenico Mavilio, Guido Torzilli, Matteo Donadon
WORLD JOURNAL OF GASTROENTEROLOGY
(2020)
Review
Oncology
Valentina Cazzetta, Sara Franzese, Claudia Carenza, Silvia Della Bella, Joanna Mikulak, Domenico Mavilio
Summary: The reciprocal crosstalk between dendritic cells (DCs) and natural killer (NK) cells plays a crucial role in regulating immune defense against viruses and tumors, with potential therapeutic implications in liver malignancies. NK cells and DCs are innate immune cells that interact to control activation and immune responses, particularly in the context of liver cancer.
Article
Cell Biology
Valentina Cazzetta, Elena Bruni, Sara Terzoli, Claudia Carenza, Sara Franzese, Rocco Piazza, Paolo Marzano, Matteo Donadon, Guido Torzilli, Matteo Cimino, Matteo Simonelli, Lorenzo Bello, Anna Villa, Likai Tan, Sarina Ravens, Immo Prinz, Domenico Supino, Federico S. Colombo, Enrico Lugli, Emanuela Marcenaro, Eric Vivier, Silvia Della Bella, Joanna Mikulak, Domenico Mavilio
Summary: NKG2A expression identifies a subset of V delta 2 T cells with intrinsic hyper-responsiveness against cancer, which is counterbalanced by the inhibitory signaling delivered by HLA-E expressed on malignant cells. Removal of NKG2A restores the effector functions of V delta 2 T cells.
Review
Biochemistry & Molecular Biology
Joyita Bharati, Praveen N. N. Chander, Pravin C. C. Singhal
Summary: Glomerular parietal epithelial cells (PECs) play crucial roles in both repair and pathogenesis of kidney diseases. Recent studies have shown that microRNA-193a (miR193a) is involved in the modulation of PEC behavior and its role in diseases such as focal segmental glomerulosclerosis (FSGS) and crescentic glomerulonephritis (CrescGN), where PECs exhibit abnormal proliferation. Inhibition of miR193a reduces crescent lesions in a mouse model of CrescGN, while its induction leads to dedifferentiation of podocytes in a mouse model of primary FSGS.
Article
Medicine, Research & Experimental
Joanna Mikulak, Ferdinando Oriolo, Elena Bruni, Alessandra Roberto, Federico S. Colombo, Anna Villa, Marita Bosticardo, Ileana Bortolomai, Elena Lo Presti, Serena Meraviglia, Francesco Dieli, Stefania Vetrano, Silvio Danese, Silvia Della Bella, Michele M. Carvello, Matteo Sacchi, Giovanni Cugini, Giovanni Colombo, Marco Klinger, Paola Spaggiari, Massimo Roncalli, Immo Prinz, Sarina Ravens, Biagio di Lorenzo, Emanuela Marcenaro, Bruno Silva-Santos, Antonino Spinelli, Domenico Mavilio