Article
Biochemistry & Molecular Biology
Gabriela Antonio-Andres, Gustavo U. Martinez-Ruiz, Mario Morales-Martinez, Elva Jimenez-Hernandez, Estefany Martinez-Torres, Tania V. Lopez-Perez, Laura A. Estrada-Abreo, Genaro Patino-Lopez, Sergio Juarez-Mendez, Victor M. Davila-Borja, Sara Huerta-Yepez
Summary: This study reveals that HIF-1 alpha can transcriptionally regulate YY1, and the expression of HIF-1 alpha positively correlates with YY1 in leukemia patients, suggesting that they may serve as therapeutic targets or biomarkers for ALL.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Oncology
Tina B. S. Miholjcic, Heloise Halse, Melodie Bonvalet, Amelie Bigorgne, Mathieu Rouanne, Laurent Dercle, Vishnu Shankar, Aurelien Marabelle
Summary: Immunotherapies have improved cancer patients' survival, but many encounter primary and secondary resistances. Investigating resistance mechanisms to cancer immunotherapies is an active area of research. Recent evidence suggests that elevated levels of LDH may have negative predictive value independent of tumor burden and guide treatment strategies in immuno-oncology. This review explores the potential of LDH-targeted therapeutic strategies to overcome the immunosuppressive effects of LDH and enhance patient survival with cancer immunotherapies.
EUROPEAN JOURNAL OF CANCER
(2023)
Review
Cell Biology
Nasim Kheshtchin, Jamshid Hadjati
Summary: Hypoxia, a common characteristic of solid tumors, contributes to different aspects of tumor progression and limits the efficacy of immunotherapies. Developing new immunotherapy strategies involving therapeutic targeting of HIF-1 molecules associated with hypoxia may enhance the clinical effectiveness of immunotherapy. Targeting hypoxia presents a potential opportunity to improve the clinical benefit of cancer immunotherapy.
JOURNAL OF CELLULAR PHYSIOLOGY
(2022)
Review
Gastroenterology & Hepatology
Zi-Niu Ding, Zhao-Ru Dong, Zhi-Qiang Chen, Ya-Fei Yang, Lun-Jie Yan, Hai-Chao Li, Kai-Xuan Liu, Cheng-Yu Yao, Yu-Chuan Yan, Chun-Cheng Yang, Tao Li
Summary: The study revealed that overexpression of HIF-1 alpha in hepatocellular carcinoma is associated with poorer prognosis and clinicopathological features, while HIF-2 alpha overexpression does not show the same associations. This suggests different roles of HIF-1 alpha and HIF-2 alpha in the progression and prognosis of hepatocellular carcinoma.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Article
Genetics & Heredity
Pablo Serrano-Lorenzo, Maria Rabasa, Jesus Esteban, Irene Hidalgo Mayoral, Cristina Dominguez-Gonzalez, Agustin Blanco-Echevarria, Rocio Garrido-Moraga, Alejandro Lucia, Alberto Blazquez, Juan C. Rubio, Carmen Palma-Milla, Joaquin Arenas, Miguel A. Martin
Summary: The article presents two young adult female patients who showed intolerance to anaerobic exercise, episodes of rhabdomyolysis, and, in one patient, psoriasis-like dermatitis. Through genetic mutation testing and lactate curve analysis, LDH-A deficiency was diagnosed.
Article
Microbiology
Adam Lynch, Patrick Pearson, Sergey N. Savinov, Andrew Y. Li, Stephen M. Rich
Summary: Borrelia burgdorferi is the cause of Lyme disease and heavily relies on glycolysis for carbon metabolism. In this study, lactate dehydrogenase (LDH) inhibitors were evaluated for their effects on B. burgdorferi growth in culture, and it was found that racemic and enantiopure gossypol, as well as oxamate, galloflavin, and stiripentol, suppressed the growth of B. burgdorferi in a dose-dependent manner. Racemic gossypol and AT-101 fully inhibited spirochetal growth at concentrations of 70.5 and 187.5 μM, respectively. The differences in efficacy between racemic gossypol and AT-101 suggest that the dextrorotatory enantiomer of gossypol may be a more effective inhibitor of B. burgdorferi growth. Overall, LDH inhibition shows promise as a mechanism for suppressing Borrelia growth, especially with bulky LDH inhibitors like gossypol.
Review
Cell Biology
Mykyta Malkov, Chee Teik Lee, Cormac T. Taylor
Summary: Hypoxia and inflammation frequently co-occur in inflammatory diseases, with pro-inflammatory cytokines such as TNF-alpha and IL-1 beta directly impacting HIF signaling pathways. Multi-level crosstalk between inflammatory and hypoxic signaling pathways plays a crucial role in shaping the degree of inflammation at hypoxic sites.
Article
Oncology
Angelina Tjokrowidjaja, Sarah J. Lord, Thomas John, Craig R. Lewis, Peey-Sei Kok, Ian C. Marschner, Chee K. Lee
Summary: This study explores the prognostic and predictive value of lactate dehydrogenase (LDH) in advanced non-small cell lung cancer (NSCLC) patients treated with immune checkpoint inhibitors (ICIs). The findings suggest that elevated pretreatment LDH is associated with worse prognosis, regardless of treatment. Persistently elevated on-treatment LDH is also associated with decreased overall survival (OS) rates.
Review
Oncology
Zhi Zeng, Qiliang Lu, Yang Liu, Junjun Zhao, Qian Zhang, Linjun Hu, Zhan Shi, Yifeng Tu, Zunqiang Xiao, Qiuran Xu, Dongsheng Huang
Summary: Sorafenib is a first-line drug for treating advanced hepatocellular carcinoma, but its efficacy is limited by drug resistance in some patients. Combinatorial therapy with HIFs-targeted therapy or HIFs inhibitors can overcome sorafenib resistance in HCC patients.
FRONTIERS IN ONCOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Thuy-Hang Nguyen, Stephanie Conotte, Alexandra Belayew, Anne-Emilie Decleves, Alexandre Legrand, Alexandra Tassin
Summary: Muscular dystrophies are genetic degenerative muscle disorders characterized by muscle wasting, often accompanied by respiratory impairments and hypoxemia. Hypoxic stress activates compensatory mechanisms, with HIF-1α playing a key role. Alterations in HIF-1α in muscle may impact the pathophysiology of muscular dystrophies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Multidisciplinary Sciences
Bingquan Qiu, Piaoliu Yuan, Xiaojuan Du, Hongfang Jin, Junbao Du, Yaqian Huang
Summary: HIF-1 alpha is a heterodimeric transcription factor that regulates cellular adaptive responses to hypoxia. It attenuates excessive pro-inflammatory responses, modulates macrophage migration, promotes M1 polarization, and influences macrophage apoptosis and autophagy.
Article
Cell Biology
Qin Lin, Zheng Chen, Wei Shi, Zeheng Lv, Xiaoping Wan, Kun Gao
Summary: In this study, we found that JAK1 was frequently mutated and downregulated in EC. Knockdown of JAK1 promoted EC cell proliferation and migration, while overexpression of JAK1 reduced EC cell proliferation and migration. Unexpectedly, the hypoxia inducible factor (HIF) pathway was activated in JAK1-depleted EC cells. Mechanistically, JAK1 interacted with HIF-1/2 alpha and reduced their protein expression under hypoxia. Knockdown of HIF-1/2 alpha reversed the growth and migration induced by JAK1 knockdown in EC cells under hypoxia. JAK1 knockdown or pharmacological inhibition of JAK1 kinase activity upregulated transcription of HIF target genes under hypoxia, while JAK1 overexpression downregulated transcription of HIF target genes under hypoxia.
CELL COMMUNICATION AND SIGNALING
(2022)
Article
Biotechnology & Applied Microbiology
Xiao-Yi Chen, Qian-Long Wang, Wei-Xue Huang, Long-Wei Li, Lan-Cong Liu, Yi Yang, You-Jiao Wu, Shan-Shan Song, Hao Ma, Hua Zhou, Pei Luo
Summary: This study aimed to analyze and evaluate the dynamic changes in HIF-1 alpha concentration in serum exosomes during bacterial peritonitis. A new colorimetric method to quantitate these changes was established. The results showed that the serum exosomal HIF-1 alpha levels increased in the early stage of bacterial peritonitis, reached a peak at 24-48 hours, and then gradually decreased. Intervention treatment reduced the abdominal infection extent, HIF-1 alpha concentration in serum exosomes, and the serum pro-inflammatory factors levels. These findings suggest that serum exosomal HIF-1 alpha can be used as a biomarker for predicting and monitoring the pathological process of bacterial peritonitis.
Review
Medicine, General & Internal
Xunyi Lin, Hang Su, Jiaxing Huo, Fenghua Zhang
Summary: This meta-analysis investigated the correlation between hypoxia-inducible factor-1a (HIF-1a) and hypoxia-inducible factor-2a (HIF-2a) protein expression and clinicopathologic characteristics in patients with papillary thyroid carcinoma (PTC). The results showed that HIF-1a and HIF-2a proteins were highly expressed in PTC tumor tissues. High expression of HIF-1a and HIF-2a proteins was associated with various clinicopathological parameters of PTC, suggesting their potential as biological indicators for the diagnosis and prognosis of PTC.
Article
Environmental Sciences
Chingju Lin, Sheng-Wei Lai, Ching-Kai Shen, Chao-Wei Chen, Cheng-Fang Tsai, Yu-Shu Liu, Dah-Yuu Lu, Bor-Ren Huang
Summary: The study demonstrates that fenofibrate is a potent compound that inhibits hypoxia-induced HIF-1 alpha and CA9 expression in GBM through multiple cellular pathways, including HO-1 activation via AMPK pathway and subsequent SIRT1-mediated HIF-1 alpha deacetylation to inhibit CA9 expression. Fenofibrate also inhibits HIF-1 alpha protein synthesis and promotes its degradation through proteasome inhibition, suggesting it as a useful anti-GBM agent.
ENVIRONMENTAL TOXICOLOGY
(2021)
Article
Cell Biology
Meng-Wan Zhang, Guang Yang, Yu-Fu Zhou, Christopher Qian, Ming-Dao Mu, Ya Ke, Zhong-Ming Qian
JOURNAL OF CELLULAR PHYSIOLOGY
(2019)
Article
Neurosciences
Chunyue Li, Danny C. W. Chan, Xiaofeng Yang, Ya Ke, Wing-Ho Yung
FRONTIERS IN CELLULAR NEUROSCIENCE
(2019)
Article
Biology
Zhong-Ming Qian, Ya Ke
BIOLOGICAL REVIEWS
(2019)
Review
Chemistry, Medicinal
Zhong-Ming Qian, Ya Ke
MEDICINAL RESEARCH REVIEWS
(2020)
Article
Multidisciplinary Sciences
Ming-Dao Mu, Hong-Yan Geng, Kang-Lin Rong, Rong-Chao Peng, Shu-Ting Wang, Lin-Ting Geng, Zhong-Ming Qian, Wing-Ho Yung, Ya Ke
NATURE COMMUNICATIONS
(2020)
Article
Multidisciplinary Sciences
Tuo Liang, Zhong-Ming Qian, Ming-Dao Mu, Wing-Ho Yung, Ya Ke
Article
Neurosciences
Chunyue Li, Xiaofeng Yang, Ya Ke, Wing-Ho Yung
Article
Medical Laboratory Technology
Guang Yang, Christopher Qian, Chao Zhang, Yong Bao, MENG-YUE LIU, Fei Jiang, Wei Li, Yong Liu, Ya Ke, ZHONG-MING QIAN
Summary: The study demonstrated that hepcidin could significantly suppress the ICH-induced increase in iron and ferritin in brain tissues and CSF by inhibiting expression of iron transport proteins, increase neuronal survival by attenuating ICH-induced apoptosis, reactive oxygen species, neurodegeneration and brain edema, as well as effectively improve ICH-induced behavioral and cognitive deficit in rats. The findings collectively showed that hepcidin could effectively attenuate iron-mediated secondary neuronal injury after ICH in rats, indicating its potential as a therapeutic drug for the treatment of ICH patients.
TRANSLATIONAL RESEARCH
(2021)
Article
Cell Biology
Xiao-Mei Wu, Christopher Qian, Fei Jiang, Yu-Xin Bao, Zhong-Ming Qian, Ya Ke
Summary: The study demonstrates that ischemic preconditioned neurons protect astrocytes against ischemia/reperfusion-induced injury by upregulating NF-kappa B activation and antioxidant enzyme activity, leading to reduced reactive oxygen species and improved cell viability. Erythropoietin and tumor necrosis factor alpha may play essential roles in mediating this astroprotection mechanism induced by ischemic preconditioning neurons under conditions of ischemia/reperfusion.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Article
Cell Biology
Yong Bao, Christopher Qian, Meng-Yue Liu, Fei Jiang, Xiaoxiao Jiang, Huijuan Liu, Zhuqing Zhang, Fanghui Sun, Ningwei Fu, Zhaoyuan Hou, Ya Ke, Yan Li, Zhong-Ming Qian
Summary: The study revealed that RASAL2 can regulate cancer cell growth by affecting autophagy process, and the phosphorylation status of its S351 site can serve as a molecular switch to control AMPK-mediated autophagy, which may be a potential therapeutic strategy for treating resistant cancers.
Article
Biochemistry & Molecular Biology
Juan Ma, Christopher Qian, Yong Bao, Meng-Yue Liu, Hui-Min Ma, Meng-Qi Shen, Wei Li, Jiao-Jiao Wang, Yu-Xin Bao, Yong Liu, Ya Ke, Zhong-Ming Qian
Summary: The study found that ApoE knockout leads to the accumulation of iron in the liver and spleen of mice, which is due to the up-regulation of transferrin receptor 1 and down-regulation of ferroportin 1. Replenishment of ApoE can partially reverse the iron-related phenotype.
Article
Cell Biology
Ming-Dao Mu, Zhong-Ming Qian, Sheng-Xi Yang, Kang-Lin Rong, Wing-Ho Yung, Ya Ke
CELL DEATH & DISEASE
(2020)
Article
Radiology, Nuclear Medicine & Medical Imaging
Rong-Chao Peng, Xiu-Xiu Liu, Ya Ke, Wing-Ho Yung
BIOMEDICAL PHYSICS & ENGINEERING EXPRESS
(2020)
Article
Medicine, General & Internal
Xuan Wang, Christopher Qian, Yinlong Yang, Meng-Yue Liu, Ya Ke, Zhong-Ming Qian
Article
Multidisciplinary Sciences
Raozhou Lin, Zhigang Duan, Haitao Sun, Man-Lung Fung, Hansen Chen, Jing Wang, Chi-Fai Lau, Di Yang, Yu Liu, Yanxiang Ni, Zai Wang, Ju Cui, Wutian Wu, Wing-Ho Yung, Ying-Shing Chan, Amy C. Y. Lo, Jun Xia, Jiangang Shen, Jian-Dong Huang
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)