Review
Urology & Nephrology
Fouad T. Chebib, Kristen L. Nowak, Michel B. Chonchol, Kristen Bing, Ahmad Ghanem, Frederic F. Rahbari-Oskoui, Neera K. Dahl, Michal Mrug
Summary: This review discusses the efficacy and safety of dietary interventions, such as caloric restriction, intermittent fasting, and ketogenic diet, in managing ADPKD. These interventions show promise in improving metabolic health and reducing oxidative stress in ADPKD, but limited clinical evidence supports their effectiveness.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Urology & Nephrology
Mireille El Ters, Pengcheng Lu, Jonathan D. Mahnken, Jason R. Stubbs, Shiqin Zhang, Darren P. Wallace, Jared J. Grantham, Arlene B. Chapman, Vicente E. Torres, Peter C. Harris, Kyongtae Ty Bae, Douglas P. Landsittel, Frederic F. Rahbari-Oskoui, Michal Mrug, William M. Bennett, Alan S. L. Yu
Summary: In ADPKD patients, higher baseline FGF23 levels were associated with faster rates of total kidney volume increase and decline in glomerular filtration rate, as well as increased risk of disease progression and adverse outcomes. FGF23 serves as an early prognostic biomarker with additive value in guiding the treatment and management of ADPKD patients.
KIDNEY INTERNATIONAL REPORTS
(2021)
Article
Medicine, General & Internal
Jin Liu, Xiaorui Yin, Hreedi Dev, Xianfu Luo, Jon D. D. Blumenfeld, Hanna Rennert, Martin R. R. Prince
Summary: This study investigates the association between autosomal dominant polycystic kidney disease (ADPKD) and pleural effusion. Pleural effusions were observed in 21% of ADPKD subjects compared to 8% in controls. In a subpopulation controlling for renal function, 25% of ADPKD subjects had pleural effusions compared to 5% of controls.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Urology & Nephrology
Luc Breysem, Frederik De Keyzer, Pieter Schellekens, Angelique Dachy, Stephanie De Rechter, Peter Janssens, Rudi Vennekens, Bert V. Bammens, Maria Irazabal, Chantal C. Van Ongeval, Peter Harris, Djalila Mekahli
Summary: This study proposes a five-level Leuven Imaging Classification ADPKD pediatric model based on age and 3D ultrasound-htTKV to reliably discriminate the severity of childhood ADPKD.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Review
Medicine, General & Internal
Akinari Sekine, Sumi Hidaka, Tomofumi Moriyama, Yasuto Shikida, Keiji Shimazu, Eiji Ishikawa, Kiyotaka Uchiyama, Hiroshi Kataoka, Haruna Kawano, Mahiro Kurashige, Mai Sato, Tatsuya Suwabe, Shinya Nakatani, Tadashi Otsuka, Hirayasu Kai, Kan Katayama, Shiho Makabe, Shun Manabe, Wataru Shimabukuro, Koichi Nakanishi, Saori Nishio, Fumihiko Hattanda, Kazushige Hanaoka, Kenichiro Miura, Hiroki Hayashi, Junichi Hoshino, Ken Tsuchiya, Toshio Mochizuki, Shigeo Horie, Ichiei Narita, Satoru Muto
Summary: Differential diagnosis between ADPKD and other cystic kidney diseases is important, with some diseases easily excluded using clinical information while others require genetic testing or additional information for diagnosis.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Urology & Nephrology
Vicente E. Torres, Arlene B. Chapman, Olivier Devuyst, Ron T. Gansevoort, Ronald D. Perrone, Jennifer Lee, Molly E. Hoke, Alvin Estilo, Olga Sergeyeva
Summary: The study demonstrated that patients with prior long-term exposure to tolvaptan were more likely to experience aquaretic adverse events and liver enzyme abnormalities compared to those who were not exposed to tolvaptan. Monthly liver function testing appeared to be effective in detecting and managing transaminase elevations during the first 18 months of treatment.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Medicine, General & Internal
Stefano Di Pietro, Alfredo Gaetano Torcitto, Carmelita Marcantoni, Gabriele Giordano, Christian Campisi, Giovanni Failla, Licia Saporito, Rosa Giunta, Massimiliano Veroux, Pietro Valerio Foti, Stefano Palmucci, Antonio Basile
Summary: This study assessed the performance of two methods, the ellipsoid method and the semi-automatic segmentation method, for measuring total kidney volume (TKV) and single kidney volume (SKV) in patients with autosomal dominant polycystic renal disease (ADPKD). The results showed that the semi-automatic segmentation method had better inter-observer reproducibility, while the ellipsoid method was more affected by inter-observer variability, especially when performed by operators with limited experience.
Review
Biochemistry & Molecular Biology
Sarah A. Bowden, Euan J. Rodger, Aniruddha Chatterjee, Michael R. Eccles, Cherie Stayner
Summary: ADPKD is a heritable renal disease caused by uncontrolled cyst growth in the kidneys, leading to end-stage kidney disease, with limited therapeutic options available. Due to similarities with neoplasia, research suggests that ADPKD kidneys may have alterations in their epigenetic landscape.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Khaoula Talbi, Ines Cabrita, Rainer Schreiber, Karl Kunzelmann
Summary: ADPKD is caused by loss of function of PKD1 or PKD2, with TMEM16A playing a central role. Expression and function of TMEM16A is upregulated in ADPKD, leading to enhanced intracellular Ca2+ signaling, cell proliferation, and ion secretion. The more severe cystic phenotype in males may be due to enhanced cell proliferation, possibly caused by elevated intracellular Ca2+ levels and increased TMEM16A currents.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Urology & Nephrology
Cuma Bulent Gul, Abdulmecit Yildiz, Saim Sag, Aysegul Oruc, Alparslan Ersoy, Sumeyye Gullulu
Summary: In ADPKD patients, endothelial dysfunction and subclinical atherosclerosis are more impaired compared to control subjects. Smoking may increase the risk of subclinical atherosclerosis in ADPKD patients.
Article
Endocrinology & Metabolism
Wei-Hui Shi, Zhi-Yang Zhou, Mu-Jin Ye, Ning-Xin Qin, Zi-Ru Jiang, Xuan-You Zhou, Nai-Xin Xu, Xian-Lin Cao, Song-Chang Chen, He-Feng Huang, Chen-Ming Xu
Summary: This study found that sperm morphological defects in males with autosomal dominant polycystic kidney disease (ADPKD) are associated with disruption of the PC1 protein and dysregulated Hippo signaling. The sperm tails of ADPKD patients showed coiled flagella, absent central microtubules, and irregular peripheral doublets. In addition, the length of sperm flagella was shorter in patients compared to controls. Further experiments revealed that Pkd1 depletion impaired ciliogenesis and resulted in decreased levels of MST1 and LATS1, leading to nuclear accumulation of YAP/TAZ and increased transcription of Aurka, potentially promoting HDAC6-mediated ciliary disassembly.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Transplantation
Franka van Luijk, Ron T. Gansevoort, Hans Blokzijl, Gerbrand J. Groen, Robbert J. de Haas, Anna M. Leliveld, Esther Meijer, Joke M. Perdok, Ruud Stellema, Andreas P. Wolff, Niek F. Casteleijn
Summary: This study analyzed the long-term efficacy of an innovative multidisciplinary treatment protocol in managing chronic refractory pain in ADPKD patients. The results showed that this protocol effectively reduced pain symptoms in the majority of patients and postponed or avoided surgical interventions such as nephrectomy in most cases.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Urology & Nephrology
Zhengmao Zhang, Hanwen Bai, Jon Blumenfeld, Andrew B. Ramnauth, Irina Barash, Martin Prince, Adrian Y. Tan, Alber Michaeel, Genyan Liu, Ines Chicos, Lior Rennert, Stavros Giannakopoulos, Karen Larbi, Stuart Hughes, Steven P. Salvatore, Brian D. Robinson, Sandip Kapur, Hanna Rennert
Summary: The study revealed pathogenic germline and somatic mutations of PKD1/2 in kidney cyst epithelium of ADPKD patients, supporting a cellular recessive mechanism for cystogenesis.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Review
Biochemistry & Molecular Biology
Xia Zhou, Vicente E. Torres
Summary: Autosomal dominant polycystic kidney disease is the third most common cause of end stage kidney disease after diabetes mellitus and hypertension. Its pathogenesis is closely associated with upregulation of cAMP and PKA signaling. Targeting this pathway may provide new therapeutic options.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Review
Pharmacology & Pharmacy
Guangying Shao, Shuai Zhu, Baoxue Yang
Summary: ADPKD is a common hereditary kidney disease characterized by progressively enlarged cysts that destroy renal function, potentially leading to ESRD. Herbal medicines have shown potential in inhibiting cyst development and ADPKD progression, providing new insights for clinical therapeutic strategies.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Water Resources
Sarah Nelson, Seye Abimbola, Sangeeta Mangubhai, Aaron Jenkins, Stacy Jupiter, Kelera Naivalu, Vilisi Naivalulevu, Joel Negin
Summary: Village water committees play a key role in managing, operating, and maintaining water and sanitation facilities, with both reactive and proactive management approaches. Men dominate membership, roles, and decision-making in the water committees.
INTERNATIONAL JOURNAL OF WATER RESOURCES DEVELOPMENT
(2022)
Editorial Material
Ethics
Himani Bhakuni, Rieke van der Graaf, Seye Abimbola
AMERICAN JOURNAL OF BIOETHICS
(2022)
Article
Genetics & Heredity
Sarah R. Senum, Ying (Sabrina) M. Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana V. Gregory, Ruxandra Neatu, Timothy L. Kline, Marie -Pierre Audrezet, Patricia Outeda, Cherie B. Nau, Esther Meijer, Hamad Ali, Theodore I. Steinman, Michal Mrug, Paul J. Phelan, Terry J. Watnick, Dorien J. M. Peters, Albert C. M. Ong, Peter J. Conlon, Ronald D. Perrone, Emilie Cornec-Le Gall, Marie C. Hogan, Vicente E. Torres, John A. Saver, Peter C. Harris
Summary: This study identifies a link between the IFT140 gene and autosomal dominant polycystic kidney disease (ADPKD). The monoallelic variation of IFT140 is associated with mild PKD phenotype, while the biallelic variation is linked to a syndromic ciliopathy. The findings also suggest that the monoallelic IFT140 variation is relatively common among cystic kidney disease patients.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Editorial Material
Public, Environmental & Occupational Health
Themrise Khan, Seye Abimbola, Catherine Kyobutungi, Madhukar Pai
Article
Health Policy & Services
Uchenna Ezenwaka, Seye Abimbola, Obinna Onwujekwe
Summary: This study examines the reasons why a pilot maternal and child health program in Nigeria was not adopted or scaled up by sub-national governments. Through qualitative evaluation and analysis, the researchers found that limited involvement of sub-national governments and lack of community advocacy were the main factors contributing to the lack of program ownership and poor implementation.
INTERNATIONAL JOURNAL OF HEALTH PLANNING AND MANAGEMENT
(2022)
Editorial Material
Public, Environmental & Occupational Health
Kabir Sheikh, David Peters, Irene Akua Agyepong, Seye Abimbola, Abdul Ghaffar, Soumya Swaminathan
Editorial Material
Public, Environmental & Occupational Health
Wasiq Khan, Seye Abimbola, Abdul Ghaffar, Maha El-Adawy, Robert Marten
Article
Cardiac & Cardiovascular Systems
Wouter B. van Dijk, Ewoud Schuit, Rieke van der Graaf, Rolf H. H. Groenwold, Sara Laurijssen, Barbara Casadei, Marco Roffi, Seye Abimbola, Martine C. de Vries, Diederick E. Grobbee
Summary: This study evaluated the feasibility of implementing ESC guidelines on general cardiology in 102 countries and found that compliance varied based on the country's income level. High-income countries had better compliance, while low-income countries had lower compliance, largely due to lack of reimbursement and financial barriers.
EUROPEAN HEART JOURNAL
(2023)
Article
Health Care Sciences & Services
Seye Abimbola
Summary: The article suggests that decentralizing fiscal power in the health sector has had negative effects on Italy, but due to the complexity of fiscal decentralization, this interpretation may not necessarily be true. The authors argue that evaluations of complex interventions should focus on understanding how and under what circumstances these interventions are beneficial or detrimental at a specific point in time, as their effects may vary across different units of a decentralized system.
INTERNATIONAL JOURNAL OF HEALTH POLICY AND MANAGEMENT
(2023)
Editorial Material
Public, Environmental & Occupational Health
Corrado Cancedda, Matthew H. Bonds, Oathokwa Nkomazana, Seye Abimbola, Agnes Binagwaho
Article
Biochemistry & Molecular Biology
Valentina Carotti, Wouter H. van Megen, Juan P. Rigalli, Eric R. Barros, Vera Sommers, Luco Rutten, Nico Sommerdijk, Dorien J. M. Peters, Jenny van Asbeck-van der Wijst, Joost G. J. Hoenderop
Summary: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the formation of fluid-filled cysts within the kidney due to mutations in PKD1 or PKD2. EVs released from PKD1 knockout cells can stimulate cyst growth through effects on recipient cells, indicating their potential role in intersegmental communication and cyst growth.
Article
Biochemistry & Molecular Biology
Ileana Cristea, Hugo Abarca, Anne E. E. Christensen Mellgren, Milana Trubnykova, Roya Mehrasa, Dorien J. M. Peters, Gunnar Houge, Raoul C. M. Hennekam, Eyvind Rodahl, Ove Bruland, Cecilie Bredrup
Summary: Ocular pterygium-digital keloid dysplasia (OPDKD) is a rare hereditary disease characterized by early corneal ingrowth of vascularized conjunctival tissue. In a reported family with OPDKD, a de novo variant in PELI2 gene was found in the affected individual, leading to constitutive activation of NLRP3 inflammasome. However, the variant did not affect Pellino-2 localization, interaction partners or stability. These findings suggest that constitutive autoactivation of the NLRP3 inflammasome contributes to the development of PELI2-associated OPDKD.
Editorial Material
Ethics
Seye Abimbola
JOURNAL OF MEDICAL ETHICS
(2023)
Article
Health Care Sciences & Services
Seye Abimbola, Hueiming Liu
Summary: Efforts to promote the adoption and scale-up of health system innovations must consider the existing institutional context. The 'four-by-four' framework, which focuses on different types of institutions and entrepreneurial strategies, can help understand the influence of context and mechanism on adoption and scale-up outcomes. It provides a scaffold to generate narratives, a tool to map out contingencies, and a matrix to synthesize narratives and experiences.
HEALTH POLICY AND PLANNING
(2023)
Article
Operations Research & Management Science
Sarah Nelson, Seye Abimbola, Aaron Jenkins, Kelera Naivalu, Joel Negin
Summary: During disease outbreaks, changes in communication, collaboration, and coordination become more flexible, facilitating resource redistribution. Strengthening communication, collaboration, and coordination among different sectors can enhance system resilience and responsiveness.
JOURNAL OF DECISION SYSTEMS
(2022)
Review
Biochemistry & Molecular Biology
M. T. Ciubuc-Batcu, N. J. C. Stapelberg, J. P. Headrick, G. M. C. Renshaw
Summary: The nervous system relies on mitochondria, and impaired mitochondrial function is associated with major depressive disorder. Modulating mitochondrial function may be a therapeutic target for treating MDD.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Correction
Biochemistry & Molecular Biology
Saowaluk Saisomboon, Ryusho Kariya, Piyanard Boonnate, Kanlayanee Sawanyawisuth, Ubon Cha'on, Vor Luvira, Yaovalux Chamgramol, Chawalit Pairojkul, Wunchana Seubwai, Atit Silsirivanit, Sopit Wongkham, Seiji Okada, Sarawut Jitrapakdee, Kulthida Vaeteewoottacharn
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Article
Biochemistry & Molecular Biology
Pavan Thapak, Zhe Ying, Victoria Palafox-Sanchez, Guanglin Zhang, Xia Yang, Fernando Gomez-Pinilla
Summary: Traumatic brain injury (TBI) impairs cellular energy demand, compromising neuronal function and plasticity. This study demonstrates that the mitochondrial activator humanin (HN) can counteract the reduction in mitochondrial bioenergetics caused by TBI, restore memory function and synaptic protein levels, and suppress inflammation and astrocyte proliferation. HN plays an integral role in normalizing fundamental aspects of TBI pathology.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Article
Biochemistry & Molecular Biology
M. Paul Murphy, Valeria A. Buzinova, Carrie E. Johnson
Summary: Progress has been made in the treatment of Alzheimer's disease through the development of anti-A beta therapeutics, which have shown modest efficacy in slowing the progression of the disease. However, the puzzling issue remains as to why completely removing A beta does not fully stop the disease.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Review
Biochemistry & Molecular Biology
Yang Zhang, Mengqiu Hao, Xuyang Yang, Su Zhang, Junhong Han, Ziqiang Wang, Hai-Ning Chen
Summary: Colorectal cancer often requires adjuvant therapies to reduce tumor burden, and the efficacy of these therapies is significantly influenced by reactive oxygen species (ROS). ROS-mediated colorectal cancer adjuvant therapies involve multiple mechanisms, and preliminary clinical trials have shown the potential of ROS-manipulating therapy in enhancing treatment outcomes.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Article
Biochemistry & Molecular Biology
Mengxin Li, Xuanzhong Wang, Xuyang Chen, Jinghui Hong, Ye Du, Dong Song
Summary: Pancreatic adenocarcinoma (PAAD) is a common digestive malignant tumor with limited treatment options. This study demonstrates that TGM2 may serve as a marker for treatment and prognosis in pancreatic cancer patients. Co-treatment of low dose cisplatin (DDP) and the TGM2 inhibitor GK921 effectively inhibits PAAD cell viability and proliferation in vitro and in vivo, by inhibiting epithelial-to-mesenchymal transition (EMT) induced by TGM2 and enhancing cell cycle arrest and apoptosis caused by DDP. These findings suggest that the combination of GK921 and DDP holds promise as a treatment for PAAD patients.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Article
Biochemistry & Molecular Biology
Liaoran Niu, Qi Wang, Fan Feng, Wanli Yang, Zhenyu Xie, Gaozan Zheng, Wei Zhou, Lili Duan, Kunli Du, Yiding Li, Ye Tian, Junfeng Chen, Qibin Xie, Aqiang Fan, Hanjun Dan, Jinqiang Liu, Daiming Fan, Liu Hong, Jian Zhang, Jianyong Zheng
Summary: This review provides a comprehensive summary of the interaction between cancer cells and macrophages in the tumor microenvironment, and discusses the role of small extracellular vesicles (sEVs) in this process. It also explores the various effects of macrophage-secreted sEVs on tumor malignant transformation, and addresses the therapeutic advancements and challenges associated with these vesicles.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Article
Biochemistry & Molecular Biology
Neha Sawant, Sudhir Kshirsagar, P. Hemachandra Reddy, Arubala P. Reddy
Summary: Depression is a common neuropsychiatric comorbidity in Alzheimer's disease (AD) and other Tauopathies. Selective serotonin reuptake inhibitor (SSRI) treatment, such as Citalopram, not only has anti-depressive and anxiolytic effects, but also helps improve neurogenesis, reduce amyloid burden & Tau pathologies, and neuroinflammation in AD. In this study, Citalopram was found to reduce pathologically pTau level, increase synaptic gene expression and cytoskeletal structure, as well as improve cell survival, mitochondrial respiration, and mitochondrial morphology in cells expressing mutant APP and Tau. These findings suggest that Citalopram could be a promising therapeutic drug for treating depression and AD.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Article
Biochemistry & Molecular Biology
Yueqi Chen, Jiulin Tan, Chuan Yang, Zhiguo Ling, Jianzhong Xu, Dong Sun, Fei Luo
Summary: Bone is a self-healing organ that undergoes continuous regeneration through the cooperation of osteoclasts and osteoblasts. This study used ATAC-seq and RNA-Seq techniques to investigate the chromatin accessibility and transcriptomic landscape of osteoblast differentiation and mineralization. The results showed that global chromatin accessibility was extensively improved during osteoblastogenesis. Additionally, several transcription factors including MEF2A, PRRX1, Shox2, and HOXB13 were found to modulate the promoter accessibility of target genes during osteoblast differentiation.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Article
Biochemistry & Molecular Biology
Zi-Ran Kang, Shanshan Jiang, Ji-Xuan Han, Yaqi Gao, Yile Xie, Jinxian Chen, Qiang Liu, Jun Yu, Xin Zhao, Jie Hong, Haoyan Chen, Ying-Xuan Chen, Huimin Chen, Jing-Yuan Fang
Summary: The study demonstrates that BCAA metabolism is involved in the development of colorectal cancer (CRC). BCAT2 deficiency promotes CRC progression by inhibiting BCAA metabolism and chronically activating the mTORC1 pathway.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Article
Biochemistry & Molecular Biology
Chao Zheng, Lingling Liu, Caiyun Liu, Fengna Chu, Yue Lang, Shan Liu, Yan Mi, Jie Zhu, Tao Jin
Summary: Inducing tolerogenic dendritic cells (tDCs) with low RelB expression could effectively alleviate symptoms and reduce immune cell infiltration and demyelination in experimental autoimmune encephalomyelitis (EAE) mouse model.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Article
Biochemistry & Molecular Biology
Hang Lam Li, Simei Go, Jung-Chin Chang, Arthur Verhoeven, Ronald Oude Elferink
Summary: This review highlights the distinct characteristics and crucial role of soluble adenylyl cyclase (sAC) in cellular processes, as well as recent significant advancements in the field of sAC research.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Article
Biochemistry & Molecular Biology
M. Seco-Cervera, D. Ortiz-Masia, D. C. Macias-Ceja, S. Coll, L. Gisbert-Ferrandiz, J. Cosin-Roger, C. Bauset, M. Ortega, B. Heras-Moran, F. Navarro-Vicente, M. Millan, J. V. Esplugues, S. Calatayud, M. D. Barrachina
Summary: The study revealed the presence of resistance to apoptosis in complicated ileal Crohn's disease, with PDGFB inducing an ETS1-mediated resistance to apoptosis associated with an inflammatory and fibrogenic pattern of expression in intestinal fibroblasts. Potential targets against ileal fibrosis include PDGFRB, IL1R1, or MCL1.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Review
Biochemistry & Molecular Biology
Yunmeng Wang, Ping Cheng
Summary: Oncolytic viruses (OVs) are emerging as therapeutically relevant anticancer agents, especially when combined with genetically modified bispecific T cell engagers (BiTEs). This combination strategy can overcome the limitations of BiTEs alone and provide targeted cytotoxicity to solid tumors.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Article
Biochemistry & Molecular Biology
Stephanie Tannous, Hassan Y. Naim
Summary: Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disorder caused by variants in the SI gene. A frameshift mutation called c.273_274delAG (p.Gly92Leufs*8) has been identified in CSID patients in Greenlandic population, which leads to loss of digestive function of SI. Surprisingly, the truncated mutant can still be located on the cell surface and interacts with wild type SI, negatively affecting its enzymatic function. Furthermore, heterozygote carriers of this mutation may also exhibit CSID symptoms.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)