Review
Hematology
Thomas W. King, Blake J. Cochran, Kerry-Anne Rye
Summary: ApoA-I, the main component of HDL, has multiple cardioprotective and antidiabetic functions. This review summarizes the current knowledge of apoA-I's antidiabetic effects, the mechanism behind these effects, and the potential of small peptides that mimic apoA-I to be used as innovative treatments for diabetes.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2023)
Article
Endocrinology & Metabolism
Nathaniel L. Baker, Samar M. Hammad, Kelly J. Hunt, Andrea Semler, Richard L. Klein, Maria F. Lopes-Virella
Summary: This study found that plasma apoM levels are associated with the development of diabetic kidney disease. Higher apoM levels are associated with increased risk of progression to macroalbuminuria and chronic kidney disease in patients with type 1 diabetes, suggesting that alterations in apoM may play a role in the development of nephropathy.
Review
Cell Biology
Blake J. Cochran, Kwok-Leung Ong, Bikash Manandhar, Kerry-Anne Rye
Summary: Epidemiological studies have shown a link between high plasma high density lipoprotein cholesterol (HDL-C) levels and reduced cardiovascular risk, but recent clinical trials of interventions to increase HDL-C levels have not established a causal basis for this relationship. This has shifted research towards enhancing the cardioprotective functions of HDLs, with a focus on discovering novel functions like the antidiabetic properties of HDLs. There is a growing need to explore the potential role of HDLs in diabetes and develop new approaches to complement existing therapies.
Article
Nutrition & Dietetics
Christian Caceres, Mi-Bo Kim, Minkyung Bae, Tho X. Pham, Yoojin Lee, Siqi Hu, Edward N. O'Neill, Bohkyung Kim, Young-Ki Park, Ji-Young Lee
Summary: Consumption of cranberries had minor effects on HDL metabolism but reduced inflammation in white adipose tissue and altered gene expression related to lipid metabolism in the liver, leading to improved energy metabolism in muscle tissues.
BRITISH JOURNAL OF NUTRITION
(2021)
Article
Biochemistry & Molecular Biology
Jacek Jasiecki, Anna Szczoczarz, Dominik Cysewski, Krzysztof Lewandowski, Piotr Skowron, Krzysztof Waleron, Bartosz Wasag
Summary: The serum protein BChE interacts with various other proteins in human blood, particularly those related to lipid metabolism such as high-density lipoprotein. A two-step strategy involving size-exclusion and affinity chromatography, as well as mass spectrometry, is effective in identifying and isolating these complexes for further analysis. Reduced BChE plasma activity is observed in individuals with severely reduced HDL levels, indicating a potential link between BChE interactions and lipid metabolism disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Medicine, General & Internal
Isabella Bonilha, Francesca Zimetti, Ilaria Zanotti, Bianca Papotti, Andrei C. Sposito
Summary: Chronic inflammatory diseases like type 2 diabetes mellitus result in significant changes in the structure and composition of high density lipoproteins (HDL), leading to an increased risk of cardiovascular disease.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Endocrinology & Metabolism
Yuetao Zhang, Yue Wang
Summary: The study found that the HDL-C/ApoA-I ratio can more stably predict fasting glucose levels, guiding better in predicting blood sugar levels, and the negative correlation between HDL-C/ApoA-I ratio and FBG levels gradually strengthens as blood glucose levels increase.
DIABETES RESEARCH AND CLINICAL PRACTICE
(2022)
Article
Biochemistry & Molecular Biology
Christina Gkolfinopoulou, Faye Soukou, Ioannis Dafnis, Tahsin F. Kellici, Despina Sanoudou, Thomas Mavromoustakos, Efstratios Stratikos, Angeliki Chroni
Summary: Our study showed that mutations in apoA-I can lead to structural and thermodynamic aberrations, as well as functional defects that impair cholesterol efflux capacity and endothelial cell functions. Mutants in reconstituted HDL were more thermodynamically destabilized and exhibited reduced cholesterol efflux capacity, as well as defects in promoting endothelial cell migration and Akt kinase activation. These findings provide insights into how these mutations affect HDL-cholesterol levels and cardiovascular risk.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Kyung-Hyun Cho
Summary: This article summarizes the changes in the quantity, quality, and functionality of high-density lipoproteins (HDL) in the context of health and disease, and discusses their potential role in the diagnosis and treatment of diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Chemistry, Analytical
Priyanka Negi, Taina Heikkila, Terhi Tallgren, Paivi Malmi, Juha Lund, Juha Sinisalo, Jari Metso, Matti Jauhiainen, Kim Pettersson, Urpo Lamminmaki, Janita Lovgren
Summary: The study focused on designing and optimizing apo A-I tests, finding that certain antibody combinations show promising outcomes to improve diagnosis and prediction of future cardiac events in cardiac patients, but further validation is needed.
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS
(2021)
Review
Cardiac & Cardiovascular Systems
Eduardo Z. Romo, Angela M. Zivkovic
Summary: Recent studies have found that high-density lipoprotein (HDL) particles carry a wide array of glycosylated proteins, which play an important role in the structure, function, and metabolism of HDL. Differential glycosylation of HDL-associated proteins may be key to understanding their role in diseases and diagnostic development. To date, no large studies have examined the relationship between HDL glycosylation profiles and cardiovascular outcomes, but small pilot studies provide promising evidence of such a relationship. Research on HDL-associated glycosylation has the potential to uncover novel mechanisms and biomarkers of CVD.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Hitomi Ohinata, Takashi Obama, Tomohiko Makiyama, Yuichi Watanabe, Hiroyuki Itabe
Summary: This study found that high-density lipoproteins (HDL) partially decreased neutrophil extracellular trap (NET) formation induced by copper-oxidized low-density lipoprotein (oxLDL). It was also discovered that oxidized phosphatidylcholines and lysophosphatidylcholine in oxLDL promoted NET formation, which could be completely blocked by native HDL. Furthermore, an electronegative subfraction of LDL, LDL(-), was found to promote NET formation. These findings suggest that plasma lipoproteins and their oxidative modifications play multiple roles in promoting NET formation, and HDL acts as a suppressor of this response.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Beata Franczyk, Jacek Rysz, Janusz Lawinski, Magdalena Rysz-Gorzynska, Anna Gluba-Brzozka
Summary: The interest in HDL cholesterol (HDL-C) lies in its role in preventing cardiovascular diseases by transporting surplus cholesterol from peripheral tissues back to the liver. However, high levels of HDL-C may not necessarily be protective against cardiovascular diseases and can even be harmful in extreme quantities.
Article
Endocrinology & Metabolism
Shane R. Thomas, Yunjia Zhang, Kerry-Anne Rye
Summary: The high density lipoprotein (HDL) fraction of human plasma is composed of spherical particles that are structurally uniform but heterogeneous in size, composition, and function. While numerous studies have shown that high levels of HDL cholesterol (HDL-C) are associated with decreased cardiovascular risk, recent clinical trials of HDL-C raising agents have failed to reduce cardiovascular events. Therefore, current research is focusing on the cardioprotective functions of HDLs and their potential use in treating other diseases.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medicine, General & Internal
Hongyan Jiang, Pengcheng Chen, Chihong Zhu, Xiaoqian Qian, Danying Wan, Jianguo Feng
Summary: This study found that serum HDL levels are associated with the prognosis of patients with ovarian cancer, with patients having higher HDL levels experiencing longer survival.
Article
Medicine, General & Internal
J. O. Lagerstedt, J. Dalla-Riva, G. Marinkovic, R. Del Giudice, D. Engelbertsen, J. Burlin, J. Petrlova, M. Lindahl, K. Bernfur, O. Melander, J. Nilsson, A. Schiopu
JOURNAL OF INTERNAL MEDICINE
(2019)
Article
Endocrinology & Metabolism
Shelley J. Edmunds, Rebeca Liebana-Garcia, Oktawia Nilsson, Joan Domingo-Espin, Caitriona Groenberg, Karin G. Stenkula, Jens O. Lagerstedt
Article
Biochemistry & Molecular Biology
Oktawia Nilsson, Rita Del Giudice, Mototsugu Nagao, Caitriona Groenberg, Lena Eliasson, Jens O. Lagerstedt
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2020)
Article
Biochemistry & Molecular Biology
Ganna Petruk, Jitka Petrlova, Firdaus Samsudin, Rita Del Giudice, Peter J. Bond, Artur Schmidtchen
Article
Multidisciplinary Sciences
Simon Bo Jensen, Sara Thodberg, Shaheena Parween, Matias E. Moses, Cecilie C. Hansen, Johannes Thomsen, Magnus B. Sletfjerding, Camilla Knudsen, Rita Del Giudice, Philip M. Lund, Patricia R. Castano, Yanet G. Bustamante, Maria Natalia Rojas Velazquez, Flemming Steen Jorgensen, Amit Pandey, Tomas Laursen, Birger Lindberg Moller, Nikos S. Hatzakis
Summary: This study identifies ligands that bind to P450 oxidoreductase (POR) and bias its specificity towards cytochromes P450 (CYP) redox partners, activating distinct metabolic cascades in cells. Single molecule FRET studies reveal that ligand binding alters the conformational sampling of POR, leading to biased activation of metabolic pathways in whole cells. This biased metabolism model may hold potential for designing pathway-specific therapeutics or personalized food to suppress unwanted, disease-related metabolic pathways.
NATURE COMMUNICATIONS
(2021)
Article
Chemistry, Multidisciplinary
Sarah Waldie, Federica Sebastiani, Martine Moulin, Rita Del Giudice, Nicolo Paracini, Felix Roosen-Runge, Yuri Gerelli, Sylvain Prevost, John C. Voss, Tamim A. Darwish, Nageshwar Yepuri, Harald Pichler, Selma Maric, V. Trevor Forsyth, Michael Haertlein, Marite Cardenas
Summary: The study investigated the interaction between ApoE variants and model membranes, the formation and structural characteristics of rHDL, and their lipid exchange ability. The results showed that different ApoE structures are sensitive to lipid unsaturation, and ApoE-rHDL mainly exchange saturated lipids.
FRONTIERS IN CHEMISTRY
(2021)
Article
Biochemistry & Molecular Biology
Rita Del Giudice, Paola Imbimbo, Federico Pietrocola, Isabelle Martins, Fatima Domenica Elisa De Palma, Jose Manuel Bravo-San Pedro, Guido Kroemer, Maria Chiara Maiuri, Daria Maria Monti
Summary: Amyloidoses are characterized by the accumulation and aggregation of misfolded proteins. In this study, a specific variant of Apolipoprotein A-I protein sequence, L75P-ApoA-I, was found to inhibit autophagy and induce excessive mitochondrial stress and cell death. Induction of autophagy or overexpression of the pro-autophagic transcription factor (TFEB) can alleviate the amyloidosis and reduce oxidative stress.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Plant Sciences
Rita Del Giudice, Natalia Putkaradze, Bruna Marques dos Santos, Cecilie Cetti Hansen, Christoph Crocoll, Mohammed Saddik Motawia, Folmer Fredslund, Tomas Laursen, Ditte Hededam Welner
Summary: This study reports the substrate-bound crystal structures and rational engineering of UGT85B1 from Sorghum bicolor involved in the biosynthesis of cyanogenic glucoside dhurrin. By combining mutations and substitution of specific residues, the researchers successfully shifted the substrate and stereo-specificities of the enzyme. The findings improve our understanding of UGTs involved in the biosynthesis of cyanogenic glucosides and have potential applications in biotechnology.
Article
Biochemistry & Molecular Biology
Rita Del Giudice, Mikaela Lindvall, Oktawia Nilsson, Daria Maria Monti, Jens O. Lagerstedt
Summary: ApoA-I amyloidosis is a rare disease where misfolded ApoA-I protein accumulates in various organs, causing organ failure. The factors leading to tissue damage and the mechanisms behind organ specificity are mostly unknown. In this study, the impact of ApoA-I variants on cell physiology and tissue specificity was investigated. The variants showed cytotoxic effects in a time and cell-type-specific manner, possibly due to protein accumulation in lysosomes. The variants also exhibited preferential binding to extracellular matrix components, reflecting their tissue accumulation pattern in vivo.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Rita Del Giudice, Nicolo Paracini, Tomas Laursen, Clement Blanchet, Felix Roosen-Runge, Marite Cardenas
Summary: This study expands the toolkit of lipid and detergent combinations that allow the formation of stable bicelles. Systematic sample characterization using various techniques provides a set of conditions under which bicelles can be successfully formed.
Article
Chemistry, Physical
Yubexi Correa, Rita Del Giudice, Sarah Waldie, Michel Thepaut, Samantha Micciula, Yuri Gerelli, Martine Moulin, Clara Delaunay, Franck Fieschi, Harald Pichler, Michael Haertlein, V. Trevor Forsyth, Anton Le Brun, Michael Moir, Robert A. Russell, Tamim Darwish, Jonas Brinck, Tigist Wodaje, Martin Jansen, Cesar Martin, Felix Roosen-Runge, Marite Cardenas
Summary: There is a close relationship between the SARS-CoV-2 virus and lipoproteins, especially high-density lipoprotein (HDL). The severity of COVID-19 is inversely correlated with HDL plasma levels. The SARS-CoV-2 spike protein binds to HDL particles, depleting them of lipids and altering HDL function.
JOURNAL OF COLLOID AND INTERFACE SCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Oktawia Nilsson, Mikaela Lindvall, Laura Obici, Simon Ekstrom, Jens O. Lagerstedt, Rita Del Giudice
Summary: Patients carrying ApoA-I amyloidogenic variants have a higher proportion of small, dense HDL particles, and enhanced cholesterol efflux capabilities due to altered protein structure dynamics.
JOURNAL OF LIPID RESEARCH
(2021)
Meeting Abstract
Biophysics
Jens O. Lagerstedt, Oktawia Nilsson, Mikaela Lindvall, Laura Obici, Simon Ekstrom, Rita Del Giudice
BIOPHYSICAL JOURNAL
(2020)
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)