Letter
Medicine, General & Internal
Ellen De Langhe, Sien Van Loo, Bert Malengier-Devlies, Mieke Metzemaekers, Frederik Staels, Jessica Vandenhaute, Nathalie Berghen, Raf Sciot, Anniek Corveleyn, Olga Tsuiko, Mieke Gouwy, Jan Lenaerts, Patrick Verschueren, Carine H. Wouters, Paul Proost, Patrick Matthys, Eric Legius, Rik Schrijvers
Summary: The article reports a case of adult-onset inflammatory disease. It is revealed that two somatic genetic events are responsible for the disease and its onset in adulthood.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Vandana Sharma, Joshua Letson, Saori Furuta
Summary: Fibrogenic stroma and cellular transformation are closely related and play crucial roles in tumor initiation. Environmental fibrogenic agents and chronic conditions may contribute to increased cancer risk by inducing fibrous stroma. Understanding the causes and consequences of fibrogenic stroma is important for studying the mechanisms of tumor initiation.
Article
Biochemical Research Methods
Xianghua Peng, Fang Liu, Ping Liu, Xing Li, Xinguo Lu
Summary: This study introduced a metabolic pathway based driver gene identification method (pathDriver) to distinguish different cancer types/subtypes. By using a protein-protein interaction network combined with metabolic pathways to construct a pathway network, the collaborative impact factor of genes in the pathway network was evaluated using Interaction Frequency (IF) and Inverse Pathway Frequency (IPF) to identify cancer-specific driver genes. The application of this method to 16 types of TCGA cancers for pan-cancer analysis successfully identified biologically significant known cancer genes and potential new candidate genes.
CURRENT BIOINFORMATICS
(2021)
Review
Gastroenterology & Hepatology
Marion Avril, R. William DePaolo
Summary: Colorectal cancer (CRC) is a significant public health problem globally, with gut microbiota playing an important role in the disease's etiology. Further research is needed to clarify the specific roles of bacteria in CRC development.
Article
Biochemical Research Methods
Zhenyu Yue, Xinlu Chu, Junfeng Xia
Summary: The study introduced a computational model called PredCID for accurately predicting cancer driver frameshift indels by combining gene, DNA, transcript, and protein level features and utilizing an eXtreme Gradient Boosting classifier. Benchmarking results demonstrated that PredCID outperformed existing methods in distinguishing cancer driver frameshift indels from passengers, making it a valuable tool for deeper understanding of frameshift indels in human cancer.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Oncology
Sundaramoorthy Revathidevi, Avaniyapuram Kannan Murugan, Hirofumi Nakaoka, Ituro Inoue, Arasambattu Kannan Munirajan
Summary: Cervical cancer, a common cancer in women, is primarily caused by HPV infection. Apart from genetic and epigenetic factors, the APOBEC3 family plays a crucial role in the molecular pathogenesis of cancer, including inducing tumor mutations through DNA editing mechanisms.
Article
Oncology
Jakob Landau, Linoy Tsaban, Adar Yaacov, Gil Ben Cohen, Shai Rosenberg
Summary: Driver mutations provide tumors with selective advantages and cause various pathogenic effects. Understanding the function of somatic variants is crucial in cancer biology and treatment selection. In this study, a shared dataset from multiple cancer genomic databases was compiled, and two measures were used to analyze 535 cancer genes. The tumor variant amplitude (TVA) outperformed other computational tools in predicting functional scores of cancer mutations, drug response, overall survival, and clinical implications in relevant cancer genes. This study highlights the importance of a large cancer dataset in understanding the impact of driver variants and their clinical implications.
Article
Hematology
Haomin Yan, Tsutomu Sasaki, Yasufumi Gon, Kumiko Nishiyama, Hideaki Kanki, Hideki Mochizuki
Summary: The incidence of cancer-associated stroke has increased with the prolonged survival times of cancer patients. In this study, the researchers focused on the driver gene KRAS and found that KRAS mutations exacerbated neurological deficits after stroke and promoted tumor growth. They also identified the upregulation of pro-inflammatory responses and the promotion of STAT3 phosphorylation in mice with KRAS mutations. Additionally, the researchers found that colorectal cancer patients with stroke onset within 3 months after cancer diagnosis had a worse prognosis.
THROMBOSIS RESEARCH
(2024)
Article
Biochemistry & Molecular Biology
Mayao Luo, Yifan Zhang, Zhuofan Xu, Shidong Lv, Qiang Wei, Qiang Dang
Summary: The EP300-R1627W mutation plays a driver role in the development and progression of bladder cancer.
MOLECULAR MEDICINE
(2023)
Article
Oncology
Yuanqiang Dong, Ning Song, Jun Wang, Liubin Shi, Ziqiang Zhang, Jianjun Du
Summary: Identifying driver genes is crucial in modern medical research, contributing to individualization and understanding the causes of cancer. This study used comprehensive gene expression and copy number analysis to identify mutation-based driver genes in gastric cancer (GC), finding prominent variations and candidate driver oncogenes associated with immune infiltration levels.
FRONTIERS IN ONCOLOGY
(2022)
Article
Medicine, Research & Experimental
Jian Shi, Li Wang, Xiangzhe Yin, Lixia Wang, Lin Bo, Kailai Liu, Ke Feng, Shihua Lin, Yanjun Xu, Shangwei Ning, Hongying Zhao
Summary: Genomic studies of colorectal cancer have found that driver gene clonality can act as prognostic markers and potential therapeutic targets in the disease. This study systematically characterized the clonal architecture of 97 driver genes in colorectal cancer patients and found that a high proportion of clonal mutations were observed in these genes. Specific gene mutations were associated with clinicopathological factors and had a significant impact on patient outcomes. Subclonal ANK1 mutations were associated with poor prognosis possibly due to upregulation of genes involved in tumor immune evasion.
JOURNAL OF TRANSLATIONAL MEDICINE
(2022)
Review
Cell Biology
Yelda Pakize Kina, Ali Khadim, Werner Seeger, Elie El Agha
Summary: Multiple factors converge to coordinate organogenesis, particularly in the context of lung development where airway branching is considered a rate-limiting step. The reciprocal interaction between the vascular network and airway tree plays a critical role in their patterning, branching, and alignment.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Oncology
Julia Matas, Brendan Kohrn, Jeanne Fredrickson, Kelly Carter, Ming Yu, Ting Wang, Xianyong Gui, Thierry Soussi, Victor Moreno, William M. Grady, Miguel A. Peinado, Rosa Ana Risques
Summary: This study reveals that mutations in common colorectal cancer genes can be detected in the normal colon, highlighting the prevalent somatic evolution in patients with colorectal cancer. Somatic evolution contributes to clonal expansions in the normal colon, especially in individuals with early-onset colorectal cancer.
Article
Oncology
Kazutaka Fujita, Masayuki Nakayama, Masafumi Sata, Yoshiaki Nagai, Shu Hisata, Naoko Mato, Takuji Suzuki, Masashi Bando, Nobuyuki Hizawa, Koichi Hagiwara
Summary: The PNA-LNA dual-PCR exhibited excellent performance in detecting mutant sequences with high sensitivity even using cytological samples. PLDP detected mutations from cfDNA in approximately 70% of lung cancer patients, and the accuracy was confirmed by clinical response and sequencing results.
Review
Cell Biology
Xiurong Cai, Adrien Guillot, Hanyang Liu
Summary: With high morbidity and mortality, hepatocellular carcinoma (HCC) is a significant and increasing burden globally. The relapse-prone nature and drug resistance of HCC are attributed to various intracellular processes and extracellular interplay, which actively participate in tumor microenvironment remodeling. Cellular senescence, considered as a fail-safe program, plays a crucial role in the progression of chronic inflammatory liver diseases and carcinogenesis. The potential of senescence in affecting anti-cancer strategies is gaining attention in recent studies.
Correction
Biochemical Research Methods
R. Prabakaran, Puneet Rawat, Sandeep Kumar, M. Michael Gromiha
BRIEFINGS IN BIOINFORMATICS
(2022)
Article
Biochemistry & Molecular Biology
R. Prabakaran, Puneet Rawat, Nobuaki Yasuo, Masakazu Sekijima, Sandeep Kumar, M. Michael Gromiha
Summary: The study investigated the aggregation of an APR (VLVIY) found in lambda light chains of human antibodies and its single point mutant KLVIY, showing that the Val->Lys mutation can resist aggregation and improve solubility by disrupting the APR. This mutation alters the solvation shell around the peptide, favoring solute-solvent interactions and increasing solubility.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS
(2022)
Letter
Biochemical Research Methods
M. Michael Gromiha, Christine A. Orengo, Ramanathan Sowdhamini, Janet M. Thornton
Article
Biochemistry & Molecular Biology
Kannan Harini, Ambuj Srivastava, Arulsamy Kulandaisamy, M. Michael Gromiha
Summary: ProNAB is a database containing over 20,000 experimental data for the binding affinities of protein-DNA and protein-RNA complexes, with detailed information and a user-friendly interface. The database facilitates the study of protein-nucleic acid interactions, development of prediction tools, and design of complexes with specific affinities.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Divya Sharma, Puneet Rawat, Vani Janakiraman, M. Michael Gromiha
Summary: Antibodies against SARS-CoV-2 isolated from vaccinated and convalescent individuals showed potential binding affinity, offering opportunities for designing more effective antibodies against current and emerging variants. A regression model was developed to predict antibody binding affinity using structural features, with a high correlation coefficient of 0.93. The study also identified mutations at the spike protein-antibody interface that may affect immune escape and enhance affinity in current or future variants.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS
(2022)
Article
Genetics & Heredity
Dhanusha Yesudhas, S. Akila Parvathy Dharshini, Y-H Taguchi, M. Michael Gromiha
Summary: This study analyzed single-cell transcriptome data of glioblastoma patients to understand the heterogeneity and prognosis mechanism of GBM, and identified potential disease-specific biomarkers.
Article
Biochemical Research Methods
Puneet Rawat, Divya Sharma, R. Prabakaran, Fathima Ridha, Mugdha Mohkhedkar, Vani Janakiraman, M. Michael Gromiha
Summary: Ab-CoV is a database containing manually curated experimental interaction profiles of 1780 coronavirus-related neutralizing antibodies. It provides comprehensive data including IC50, EC50, and K-D, as well as predicted changes in stability and affinity of point mutations of interface residues.
Review
Chemistry, Medicinal
Arulsang Kulandaisamy, Fathima Ridha, Dmitrij Frishman, M. Michael Gromiha
Summary: Membrane proteins play crucial roles in cellular functions, including serving as drug targets and mutations in these proteins can lead to diseases. Databases such as MutHTP and TMSNP provide data on disease-causing and neutral mutations in membrane proteins.
CURRENT TOPICS IN MEDICINAL CHEMISTRY
(2022)
Article
Biochemical Research Methods
Medha Pandey, P. Anoosha, Dhanusha Yesudhas, M. Michael Gromiha
Summary: Glioblastoma is an aggressive brain and spinal cord tumor, and mutations in specific amino acid residues are associated with the disease. This study identified driver mutations preferredly containing Arg and passenger mutations preferredly containing Met and Ile. The study also revealed different motifs and neighboring residues preferences between driver and passenger mutations. By utilizing sequence-based features and machine learning, a method called GBMDriver was developed to distinguish between driver and passenger mutations with high accuracy. This method has great potential in prioritizing driver mutations and identifying therapeutic targets in glioblastoma.
BRIEFINGS IN BIOINFORMATICS
(2022)
Letter
Biotechnology & Applied Microbiology
M. Michael Gromiha, Kannan Harini
Summary: Mei and colleagues introduced PNATDB, a thermodynamic database for protein-nucleic acid interactions with 12,635 experimentally determined parameters. They claimed that extracting data from existing databases is challenging. However, they did not discuss ProNAB, which contains over 20,000 experimental data points for binding affinities of protein-nucleic acid complexes and other information.
TRENDS IN BIOTECHNOLOGY
(2023)
Article
Genetics & Heredity
Sankaran Venkatachalam, Nisha Murlidharan, Sowmya R. Krishnan, C. Ramakrishnan, Mpho Setshedi, Ramesh Pandian, Debmalya Barh, Sandeep Tiwari, Vasco Azevedo, Yasien Sayed, M. Michael Gromiha
Summary: AIDS is a challenging infectious disease with a need for understanding drug resistance mechanisms. A new double-insertion mutation (L38HL) in HIV subtype C protease was investigated for its potential in inducing drug resistance towards the protease inhibitor Saquinavir (SQV). Computational techniques revealed that the L38HL mutation increased flexibility in certain regions and decreased binding affinity of SQV compared to wild-type. The mutation also resulted in a wide opening at the binding site and altered flap dynamics, leading to decreased interactions with the binding site and a potential drug resistance phenotype.
Article
Chemistry, Medicinal
Sowmya Ramaswamy Krishnan, Ruben R. G. Soares, Narayanan Madaboosi, M. Michael Gromiha
Summary: The emergence of new zoonotic infections among humans has increased the burden on global healthcare systems to control their spread. To address this, a novel and integrated PLP design pipeline called AutoPLP has been developed, which can automate the probe design process for a diverse pathogen panel of interest.
ACS INFECTIOUS DISEASES
(2023)
Article
Biochemical Research Methods
Jianfeng Sun, Arulsamy Kulandaisamy, Jinlong Ru, M. Michael Gromiha, Adam P. Cribbs
Summary: TMKit is an open-source Python programming interface specifically designed for processing transmembrane protein data. It includes tools for database wrangling, feature engineering, and protein-protein interaction visualization. Additionally, it offers the high-performance computing library seqNetRR for fast construction of residue connections and allocation of correlation matrix-based features. TMKit serves as a useful tool for researchers studying transmembrane protein sequences and structures.
BRIEFINGS IN BIOINFORMATICS
(2023)
Article
Genetics & Heredity
Nela Pragathi Sneha, S. Akila Parvathy Dharshini, Y. -H Taguchi, M. Michael Gromiha
Summary: In this study, the relationship between genetic variants and differentially expressed genes/transcripts in the BA4 region of Huntington's disease patients was investigated. The study identified variants that regulate gene expression and highlighted variants affecting miRNA and its targets. Co-expression network analysis revealed the role of novel genes, while function interaction network analysis showed the importance of genes involved in vesicle-mediated transport. The study also emphasized the crucial role of genes expressed in immune cells in reducing neuron death in Huntington's disease.
Article
Biochemistry & Molecular Biology
Fathima Ridha, M. Michael Gromiha
Summary: Membrane protein-protein interactions are crucial for cellular functions. This study collected experimental data of membrane protein-protein complexes and derived features to understand the factors influencing binding affinity. A machine learning method, MPA-Pred, was developed to predict the binding affinity and showed high accuracy in the prediction.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS
(2023)
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)