Review
Pediatrics
Shao-Jia Mao, Jia Zhao, Zheng Shen, Chao-Chun Zou
Summary: Fucosidosis is a rare lysosomal storage disease caused by variants in the FUCA1 gene resulting in deficiency of alpha-L-fucosidase. Early diagnosis plays a crucial role in Fucosidosis.
Article
Biochemistry & Molecular Biology
Adam J. Kanack, Kazuhiro Aoki, Michael Tiemeyer, Nancy M. Dahms
Summary: Fabry disease is caused by a deficiency of the lysosomal enzyme alpha-Galactosidase-A, leading to the accumulation of alpha-Gal A substrates and increased risk of thrombotic events. Studies in a rat model found that alpha-Gal A-deficient rats accumulate myeloid-derived leukocytes and megakaryocytes, increased levels of pro-inflammatory cytokines, and platelets with elevated binding ability to fibrinogen.
Article
Cell Biology
Bokai Zhang, Xi Yang, Ming Li
Summary: Three recent studies have identified LYSET/TMEM251/GCAF as a key regulator of the M6P biosynthetic pathway. LYSET/TMEM251 interacts with GNPT, the enzyme responsible for M6P transfer, and is crucial for its activity and stability. Deletion of LYSET/TMEM251 impairs GNPT function and M6P modifications, resulting in mistargeting of lysosomal enzymes and the development of a lysosomal storage disease.
Article
Biochemistry & Molecular Biology
Frederick James Ashby, Evelyn J. Castillo, Yan Ludwig, Natalia K. Andraka, Cong Chen, Julia C. Jamieson, Nadia Kabbej, John D. Sommerville, Jose I. Aguirre, Coy D. Heldermon
Summary: This study identifies osteogenic manifestations in MPS IIIB mouse model, which could serve as potential biomarkers for preclinical treatment of MPS IIIB.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Developmental Biology
Elizabeth J. Meiman, Grace Robinson Kick, Cheryl A. Jensen, Joan R. Coates, Martin L. Katz
Summary: This study focuses on Golden Retriever dogs carrying a frameshift variant in the CLN5 gene, leading to a progressive neurodegenerative disorder similar to neuronal ceroid lipofuscinosis. The research describes the onset and progression of the disease, manifesting as restlessness, proprioceptive deficits, ataxia, cognitive decline, and ultimately euthanasia around 21-23 months of age. MRI revealed significant brain atrophy and accumulation of autofluorescent inclusions.
DEVELOPMENTAL NEUROBIOLOGY
(2022)
Review
Cell Biology
Myeong Uk Kuk, Yun Haeng Lee, Jae Won Kim, Su Young Hwang, Joon Tae Park, Sang Chul Park
Summary: Lysosomal storage disease (LSD) is a genetic metabolic disorder with no effective treatment to restore normal levels. The crosstalk between lysosomes and mitochondria is crucial for cellular homeostasis, and the deficiency of lysosome enzymes in LSD leads to deterioration of the mitochondrial respiratory chain.
Review
Biochemistry & Molecular Biology
Rebecca Maechtel, Fanni Annamaria Boros, Jan Philipp Dobert, Philipp Arnold, Friederike Zunke
Summary: Lysosomes are acidic organelles responsible for recycling cellular components and can cause lysosomal dysfunction and LSDs when there is reduced enzymatic activity. Neurons are particularly susceptible to lysosomal dysfunction, leading to neurological symptoms. There are genetic associations between LSDs and Parkinson's disease, indicating common cellular mechanisms.
JOURNAL OF MOLECULAR BIOLOGY
(2023)
Article
Veterinary Sciences
Shinji Tamura, Yumiko Tamura, Yuya Nakamoto, Daisuke Hasegawa, Masaya Tsuboi, Kazuyuki Uchida, Akira Yabuki, Osamu Yamato
Summary: Positioning head tilt is a common neurological sign observed in dogs, likely caused by inadequate inhibition of the vestibular nuclei by the cerebellar nodulus and ventral uvula. Various lysosomal storage diseases can lead to positioning head tilt, associated with dysfunction of the NU.
FRONTIERS IN VETERINARY SCIENCE
(2021)
Article
Multidisciplinary Sciences
Kristina Fredriksen, Stefanos Aivazidis, Karan Sharma, Kevin J. Burbidge, Caleb Pitcairn, Friederike Zunke, Eilrayna Gelyana, Joseph R. Mazzulli
Summary: GBA1 mutations that encode lysosomal beta-glucocerebrosidase (GCase) cause Gaucher disease and are risk factors for synucleinopathies. The study found that alpha-synuclein neuropathology induced by GCase depletion depends on neuronal maturity, alpha-synuclein physiology, and specific accumulation of long-chain glycosphingolipid substrates. Reduction of long-chain glycosphingolipids can ameliorate alpha-synuclein pathology.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Review
Biochemistry & Molecular Biology
Marc Borie-Guichot, My Lan Tran, Yves Genisson, Stephanie Ballereau, Cecile Dehoux
Summary: Pompe disease is a lysosomal storage disease caused by mutations of the GAA gene, and the primary treatment is enzyme replacement therapy. Research on new therapies is ongoing due to limitations of ERT.
Article
Medicine, Research & Experimental
Kalliopi Sofou, Kolja Meier, Leslie E. Sanderson, Debora Kaminski, Laia Montoliu-Gaya, Emma Samuelsson, Maria Blomqvist, Lotta Agholme, Jutta Gaertner, Chris Muehlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko van Ham, Jorge Asin Cayuela, Fredrik H. Sterky
Summary: Patients with lysosomal storage disease-like symptoms were found to have homozygous mutations in VPS16, resulting in impaired cellular functions such as transferrin uptake and lysosomal accumulation, which were rescued by re-expression of VPS16. Disrupted vps16 expression in zebrafish led to developmental defects and similar lysosomal and autophagosomal accumulation in the brain. This expands the understanding of diseases resulting from mutations in HOPS/CORVET subunits.
EMBO MOLECULAR MEDICINE
(2021)
Article
Genetics & Heredity
Annie Brown, Jiayi Zhang, Brendan Lawler, Biao Lu
Summary: Targeted gene disruption in human HAP1 cells using CRISPR-Cas9 technology allowed rapid establishment of the Gaucher disease model, demonstrating key pathological features and potential for evaluating replacement therapies. This approach may be applicable for generating disease models of other LSDs and testing specific treatments.
Article
Cell Biology
Alice Prieto Huarcaya, Susy Drobny, Andre R. A. Marques, Alessandro Di Spiezio, Jan Philipp Dobert, Denise Balta, Christian Werner, Tania Rizo, Lisa Gallwitz, Simon Bub, Iva Stojkovska, Nandkishore R. Belur, Jens Fogh, Joseph R. Mazzulli, Wei Xiang, Amitkumar Fulzele, Mario Dejung, Markus Sauer, Beate Winner, Stefan Rose-John, Philipp Arnold, Paul Saftig, Friederike Zunke
Summary: This study suggests that enhancing SNCA degradation through the application of rHsCTSD can reduce SNCA aggregates in the brains of PD patients and restore endo-lysosome and autophagy function.
Article
Chemistry, Multidisciplinary
Arnold E. Stuetz, Martin Thonhofer, Patrick Weber, Andreas Wolfsgruber, Tanja M. Wrodnigg
Summary: The article presents a brief survey on selected beta-galactosidase inhibitors as potential pharmacological chaperones for G(M1)-gangliosidosis and Morquio B associated mutants of human lysosomal beta-galactosidase, highlighting recent developments in this specific area of lysosomal storage disorders and orphan diseases.
Article
Cell Biology
Tejia Zhang, Ivy Alonzo, Chris Stubben, Yijie Geng, Chelsea Herdman, Nancy Chandler, Kim P. Doane, Brock R. Pluimer, Sunia A. Trauger, Randall T. Peterson
Summary: Sphingolipidoses, a type of lysosomal storage disease, cause early mortality and limited treatment options due to neurological involvement. Demyelination pathways were investigated in a zebrafish model with combined saposin deficiency, and severe myelin loss was observed. Dysregulated mTORC1 signaling and neuroinflammation were found, and the modulation of acid sphingomyelinase activity showed potential as a treatment approach.
DISEASE MODELS & MECHANISMS
(2023)
Article
Food Science & Technology
Zahra B. Naqvi, Peter C. Thomson, Minh Ha, Michael A. Campbell, David M. McGill, Michael A. Friend, Robyn D. Warner
Summary: The study found that meat from older animals required higher temperature and prolonged cooking to achieve equal tenderness compared to meat from younger animals. Cooking time, temperature, and their interaction significantly affected cooking loss in both muscles. In sous vide cooking, the solubilization of collagen contributed to the improved tenderness of the muscles.
Article
Neurosciences
Amanda L. Wright, Paul A. Della Gatta, Sheng Le, Britt A. Berning, Prachi Mehta, Kelly R. Jacobs, Hossai Gul, Rebecca San Gil, Thomas J. Hedl, Winonah R. Riddell, Owen Watson, Sean S. Keating, Juliana Venturato, Roger S. Chung, Julie D. Atkin, Albert Lee, Bingyang Shi, Catherine A. Blizzard, Marco Morsch, Adam K. Walker
Summary: Riluzole did not have a positive effect on disease-related phenotypes in female transgenic mice closely recapitulating TDP-43 pathology, suggesting the need to target pathways related to TDP-43 accumulation for developing better ALS treatments in the future.
EUROPEAN JOURNAL OF NEUROSCIENCE
(2021)
Article
Plant Sciences
Eisrat Jahan, Peter C. Thomson, David T. Tissue
Summary: Mesophyll conductance (g(m)) is a crucial factor in limiting photosynthesis, yet its response to long-term growth in variable [CO2] conditions depends on water stress, particularly in crop plants. Plants with higher g m may increase photosynthetic rates (A) without increasing stomatal conductance (g(sc), thereby improving water-use efficiency (WUE).
JOURNAL OF EXPERIMENTAL BOTANY
(2021)
Article
Clinical Neurology
Alison L. Hogan, Natalie Grima, Jennifer A. Fifita, Emily P. McCann, Benjamin Heng, Sandrine Chan Moi Fat, Sharlynn Wu, Ram Maharjan, Amy K. Cain, Lyndal Henden, Stephanie Rayner, Ingrid Tarr, Katharine Y. Zhang, Qiongyi Zhao, Zong-Hong Zhang, Amanda Wright, Albert Lee, Marco Morsch, Shu Yang, Kelly L. Williams, Ian P. Blair
Summary: Our study confirmed the dysregulation of SFPQ as a common feature in the central nervous system of ALS patients. Additionally, we found significantly reduced SFPQ RNA expression in the central nervous system of patients. Furthermore, while nuclear depletion of SFPQ was not observed at the protein level, SFPQ-positive ubiquitinated protein aggregates were identified in patients' spinal motor neurons.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2021)
Article
Multidisciplinary Sciences
N. Khalilisamani, P. C. Thomson, H. W. Raadsma, M. S. Khatkar
Summary: Genotypic errors can impact the accuracy of genomic predictions and genomic relationship matrix, but their influence may not be substantial across different datasets. Increasing SNP density from 3 to 20 K can marginally enhance the accuracy of genomic predictions using the current population and genomic parameters.
SCIENTIFIC REPORTS
(2021)
Article
Ecology
Nima Khalilisamani, Peter Campbell Thomson, Herman Willem Raadsma, Mehar Singh Khatkar
Summary: Estimating heritability based on individual phenotypic and genotypic measurements can be expensive and labour-intensive in commercial aquaculture breeding. This study investigated the feasibility of estimating heritability using within-family means of phenotypes and allelic frequencies. The results showed that at least 200 families of 60 progeny per family divided equally in two pools per family were required to effectively estimate the heritability of family means. Increasing the size of pools resulted in increasing the heritability of family means towards one.
Article
Agriculture, Dairy & Animal Science
M. Khatun, P. C. Thomson, S. C. Garcia, R. M. Bruckmaier
Summary: This study examined the correlation between lactate dehydrogenase (LDH) and serum albumin (SA) in milk and the transfer of IgG, as well as their ability to differentiate between gram-positive and gram-negative intramammary infections (IMI). The results showed that both LDH and SA could predict the transfer of IgG, and when combined with somatic cell count (SCC), they could accurately differentiate between the two types of IMI. The study also found that the measured factors had higher values in milk samples taken before milk ejection.
JOURNAL OF DAIRY SCIENCE
(2022)
Article
Neurosciences
Sarah J. Baracz, Katherine J. Robinson, Amanda L. Wright, Anita J. Turner, Iain S. McGregor, Jennifer L. Cornish, Nicholas A. Everett
Summary: Early life stress (ELS) is associated with disrupted neural development and increased vulnerability to mental health disorders, including addiction. ELS disrupts the oxytocin system, which modulates addiction susceptibility, and adolescent oxytocin treatment can reduce ELS-induced psychopathology and addiction vulnerability.
NEUROPSYCHOPHARMACOLOGY
(2022)
Article
Microbiology
Qurrat Ul Ain Farooq, Giles Edward St. John Hardy, Jen A. McComb, Peter Campbell Thomson, Treena Isobel Burgess
Summary: This study investigated the plant growth and responses of the microbial profile in the rhizosphere soil and root endosphere of avocado plants infested or not infested with Phytophthora cinnamomi. The findings showed that applying phosphite or mineral mulch to the soil can reduce root growth and visible root damage in infested plants. Bacterial abundance and diversity were reduced in the infested rhizosphere and root endosphere, but the presence or absence of mineral mulch resulted in greater diversity and larger differences in rhizosphere community composition. Actinobacteria and Proteobacteria had higher abundance in the presence of Phytophthora. The addition of silicate-based mineral mulch can protect against Phytophthora root rot through changes in rhizosphere bacterial community composition, while the changes induced by spraying plants with phosphite are different from those resulting from the application of mineral mulch to the soil.
FRONTIERS IN MICROBIOLOGY
(2022)
Article
Agriculture, Dairy & Animal Science
Santi Pangmao, Peter C. Thomson, Mehar S. Khatkar
Summary: This study analyzed the genetic parameters of milk yield, lactation curve traits, and milk composition of Thai dairy cattle from three government research farms. The heritability of most traits was higher in the first lactation, suggesting potential improvements through selection and mating programs for certain traits like milk yield, peak milk yield, and protein percentage.
Article
Food Science & Technology
Marefa Jahan, Peter C. Thomson, Peter C. Wynn, Bing Wang
Summary: Sialic acids (Sias) derived from red meat, including Neu5Ac and KDN, have various roles in immunity and brain cognition, while Neu5Gc may increase the risk of cancer and inflammation. A study using UHPLC determined the content of Neu5Ac and KDN in skeletal muscle and organs of different species, revealing that goat skeletal muscle had the highest Neu5Ac content, followed by kidney. This study provides guidance for consumers to choose red meat with lower Neu5Ac and Neu5Gc content.
Article
Agriculture, Dairy & Animal Science
Sajida Sabahat, Asif Nadeem, Rudiger Brauning, Peter C. Thomson, Mehar S. Khatkar
Summary: This genome-wide association study conducted on Pakistani dromedary camels aimed to identify SNPs associated with growth at different ages and study how their effects change over time. The study found several SNPs associated with growth traits, providing a basis for genetic selection of superior animals.
Article
Agriculture, Dairy & Animal Science
S. Talukder, D. Qiu, P. C. Thomson, L. Cheng, B. R. Cullen
Summary: This study aimed to evaluate the effect of temperature-humidity index (THI) on rumination time (RT), milk yield and quality, and milking frequency in a pasture-based voluntary-movement automatic milking system (AMS). The findings indicated that high THI resulted in a drop in milk yield, milking frequency, and RT.
ANIMAL PRODUCTION SCIENCE
(2023)
Article
Zoology
Muhammad Mansha, Sidra Yaqub, Asma Abdul Latif, Muhammad Wasim, Peter C. Thomson
Summary: This study found a potential association between premature termination of pregnancy/miscarriage and breast cancer, and concluded that HER2/neu is not a suitable diagnostic test.
PAKISTAN JOURNAL OF ZOOLOGY
(2022)
Article
Agriculture, Dairy & Animal Science
L. Olmo, J. R. Young, S. Nampanya, I. B. MacPhillamy, S. Khounsy, P. C. Thomson, P. A. Windsor, R. D. Bush
Summary: The study found that increasing land dedicated to forages and promoting farmer market-orientation can improve reproductive performance of cattle and buffalo. Additionally, having more female cows can enhance reproductive performance.
ANIMAL PRODUCTION SCIENCE
(2021)
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)