Editorial Material
Cell Biology
Yalan Wang, Hongyan Wang, Chenji Wang
Summary: In neuronal ceroid lipofuscinoses (NCLs), mutations in the KCTD7 gene lead to lysosomal dysfunction and macroautophagic/autophagic defects, resulting in the accumulation of lysosomal storage deposits. Our study demonstrates that KCTD7 is a key player in maintaining lysosomal and autophagic homeostasis, and it is biochemically linked with CLN5, another NCL causative gene, in a common neurodegenerative pathway.
Article
Biotechnology & Applied Microbiology
Rebecca C. Ahrens-Nicklas, Luis Tecedor, Arron F. Hall, Owen Kane, Richard J. Chung, Elena Lysenko, Eric D. Marsh, Colleen S. Stein, Beverly L. Davidson
Summary: Neurologic symptoms in lysosomal storage disorders are often caused by neuronal dysfunction rather than storage accumulation, highlighting the importance of understanding the underlying mechanisms for therapy development in these disorders such as CLN3 disease.
Article
Cell Biology
Shyong Quan Yap, William D. Kim, Robert J. Huber
Summary: The transmembrane protein MFSD8 plays a crucial role in transporting chloride ions across the lysosomal membrane and is associated with CLN7 disease. The ortholog of human MFSD8 in D. discoideum, called mfsd8, is involved in endocytosis, protein secretion, and growth and early development processes. Loss of mfsd8 in D. discoideum leads to increased proliferation, pinocytosis, and cell size, as well as inhibition of cytokinesis and altered enzyme activity.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Genetics & Heredity
Yimeng Qiao, Yang Gu, Ye Cheng, Yu Su, Nan Lv, Qing Shang, Qinghe Xing
Summary: This article reports a Chinese patient with CLN7 who carries compound heterozygous mutations in the MFSD8 gene, including a novel two-nucleotide deletion and a whole gene deletion. The results suggest that whole gene deletion of MFSD8 may be one of the genetic mutation types in CLN7 patients. Therefore, genetic counseling staff should consider the possibility of whole gene deletion in CLN7 patients with biallelic mutations in the MFSD8 gene.
FRONTIERS IN GENETICS
(2022)
Review
Biochemistry & Molecular Biology
I. Basak, H. E. Wicky, K. O. McDonald, J. B. Xu, J. E. Palmer, H. L. Best, S. Lefrancois, S. Y. Lee, L. Schoderboeck, S. M. Hughes
Summary: Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease caused by mutations in thirteen CLN genes. Mutations in the CLN5 gene lead to a form of variant late-infantile NCL, with widespread protein expression in various tissues. Research on CLN5 helps to understand lysosomal biology and develop efficient therapies for CLN5 Batten disease.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Review
Clinical Neurology
Guillermo Guelbert, Ana Clara Venier, Ines Adriana Cismondi, Adriana Becerra, Juan Carlos Vazquez, Elmer Andres Fernandez, Ana Lucia De Paul, Norberto Guelbert, Ines Noher, Favio Pesaola
Summary: This study reviewed the characteristics and data of neuronal ceroid lipofuscinoses (NCLs) in the South American and Caribbean region. CLN2, CLN6, and CLN3 were found to be the most common diseases in this region. The symptoms include seizures, language impairments, motor impairments, and visual impairments, with onset age usually below 10 years old.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Pimchanok Kulsirichawaroj, Surachai Likasitwattanakul, Ponghatai Boonsimma, Kanjana Prangphan, Mongkol Chanvanichtrakool
Summary: This study reported two cases of CLN disease with clinical features similar to Rett syndrome in children, emphasizing the importance of considering CLN disease in patients with a Rett-like phenotype when MECP2 mutation is negative.
PEDIATRIC NEUROLOGY
(2022)
Review
Cell Biology
William D. Kim, Morgan L. D. M. Wilson-Smillie, Aruban Thanabalasingam, Stephane Lefrancois, Susan L. Cotman, Robert J. Huber
Summary: This review summarizes the research linking the autophagy pathway to neuronal ceroid lipofuscinoses (NCLs) and provides guidance for future studies on the contribution of altered autophagy to NCL pathology.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Clinical Neurology
Marina Trivisano, Alessandro Ferretti, Costanza Calabrese, Nicola Pietrafusa, Ludovica Piscitello, Giusy Carfi' Pavia, Federico Vigevano, Nicola Specchio
Summary: Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative diseases characterized by progressive cerebral atrophy due to lysosomal storage disorder. Early diagnosis is crucial and neurophysiological features can be helpful for this purpose. Electroencephalogram (EEG), visual evoked potentials (VEPs), and electroretinogram (ERG) are essential tools for early diagnosis of NCLs.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Melis Kose, Engin Kose, Aycan Unalp, Unsal Yilmaz, Selvinaz Edizer, Hande Gazeteci Tekin, Pakize Karaoglu, Taha Resid Ozdemir, Esra Er, Huseyin Onay, Eser Sozmen Yildirim
Summary: This study discusses the clinical and molecular characteristics of 14 patients diagnosed with different types of NCL, including NCL7, NCL1, NCL2, and others. The results revealed 11 pathogenic variants, 5 of which are novel.
NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
John R. Ostergaard, Hemanth R. Nelvagal, Jonathan D. Cooper
Summary: This study compares the symptomatology and pathology of CLN1 and CLN3 phenotypes, indicating that despite similar pathological endpoints, their disease propagation pathways differ significantly. CLN1 disease represents a Body-first propagation model while CLN3 disease follows a Brain-first propagation model.
FRONTIERS IN NEUROLOGY
(2022)
Review
Clinical Neurology
Udo Bartsch, Stephan Storch
Summary: This review discusses the key findings of different experimental approaches in NCL animal models aimed at attenuating progressive retinal degeneration and the decline in retinal function. Experimental enzyme replacement therapy, gene therapy, cell-based therapy, and immunomodulation therapy were evaluated and showed encouraging therapeutic benefits. Gene-based approaches, in particular, have shown strong potential in treating retinal dystrophies in NCLs.
FRONTIERS IN NEUROLOGY
(2022)
Review
Clinical Neurology
John R. Ostergaard
Summary: This study discusses a rational approach to prevent and/or treat non-epileptic episodes in patients with juvenile neuronal ceroid lipofuscinosis (JNCL, CLN3 disease). Based on the knowledge of triggering factors and the impact of CLN3 disease on neural anxiety/fear circuit, the study suggests increasing the threshold of discomfort impact, modulating the imbalance of central network inhibition and excitation, and restoring the balance between sympathetic and parasympathetic neural systems.
FRONTIERS IN NEUROLOGY
(2023)
Article
Neurosciences
Tao Guo, Jing Xiong, Hongyan Feng, Lihong Bu, Tingting Xiao, Lingyan Zhou, Juanfeng He, Min Deng, Yan Liu, Zhaohui Zhang, Zhentao Zhang
Summary: Parkinsonism is a clinical syndrome caused by Parkinson's disease (PD) and other neurodegenerative diseases. In this study, we report a patient with adult-onset neuronal ceroid lipofuscinoses (ANCLs) who exhibited progressive parkinsonism, epilepsy, and cognitive impairment. The patient carried a mutation in the DNAJC5 gene that encodes cysteine string protein (CSPa). Our results show that the L116del mutation in CSPa promotes α-syn pathology and neurotoxicity, suggesting that boosting CSPa may have therapeutic potential for treating synucleinopathies.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Multidisciplinary Sciences
Katharina N. Russell, Nadia L. Mitchell, Martin P. Wellby, Graham K. Barrell, David N. Palmer
Summary: This article discusses datasets related to intravitreal gene therapy in sheep with CLN5 Batten disease, using electroretinography to assess retinal degeneration. The study provides insights into the disease process and optimal therapeutic windows for future research on NCL.
Letter
Clinical Neurology
Felix Kleefeld, Anja von Renesse, Carsten Dittmayer, Lutz Harms, Josefine Radke, Helena Radbruch, Hans-Hilmar Goebel, Florence Pache, Udo Schneider, Markus Schuelke, Akinori Uruha, Werner Stenzel
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2022)
Letter
Clinical Neurology
David Wasilewski, Martin Janz, Arend Koch, Andreas Rosenwald, Ulrich Keller, Peter Vajkoczy, Katharina Faust, Ioannis Anagnostopoulos, Josefine Radke
ACTA NEUROLOGICA BELGICA
(2023)
Article
Clinical Neurology
Ignacio Javier Acosta, Werner Stenzel, Monika Hofer, Stefen Brady
Summary: The pattern of p62 IHC is helpful for the pathological differential diagnosis of non-immune-mediated rhabdomyolysis, but lacks specificity. This suggests that the p62 staining pattern cannot distinguish non-immune-mediated rhabdomyolysis from histopathologically similar IMNM.
Article
Rheumatology
Debora Pehl, Corinna Preusse, Yves Allenbach, Olivier Benveniste, Philipp Dittert, Rieke Alten, Andreas Krause, Norman Goerl, Michael Zaenker, Hans-Hilmar Goebel, Udo Schneider, Werner Stenzel
Summary: The study provides insights into the pathological features of EF, showing inflammation at the muscle-fascia interface and involvement of CD206(+) macrophages and eosinophils. The immune phenotype of EF is similar to DM, but not associated with hypoxia-mediated processes. These findings offer new clues for further investigating the etiology and pathogenesis of EF.
Article
Multidisciplinary Sciences
Niamh B. B. McNamara, David A. D. Munro, Nadine Bestard-Cuche, Akiko Uyeda, Jeroen F. J. Bogie, Alana Hoffmann, Rebecca K. K. Holloway, Irene Molina-Gonzalez, Katharine E. E. Askew, Stephen Mitchell, William Mungall, Michael Dodds, Carsten Dittmayer, Jonathan Moss, Jamie Rose, Stefan Szymkowiak, Lukas Amann, Barry W. W. McColl, Marco Prinz, Tara L. L. Spires-Jones, Werner Stenzel, Karen Horsburgh, Jerome J. A. Hendriks, Clare Pridans, Rieko Muramatsu, Anna Williams, Josef Priller, Veronique E. E. Miron
Summary: This study reveals the crucial role of resident microglia in maintaining myelin health in the central nervous system. Microglia are involved in regulating myelin growth, preserving myelin integrity, and influencing cognitive function. Disruption of the TGF beta 1-TGF beta R1 axis is implicated in the mechanism underlying the loss of myelin health. The findings suggest that targeting microglia could be a potential therapeutic approach for conditions with dysregulated myelin growth and integrity.
Article
Clinical Neurology
Sarah Hoffmann, Patrick Waters, Leslie Jacobson, Markus Schuelke, Werner Stenzel, Tobias Ruck, Sophie Lehnerer, Frauke Stascheit, Corinna Preusse, Andreas Meisel
Summary: Autoantibody testing is essential for autoimmune myasthenia gravis diagnosis, but about 15% of patients still show negative results (seronegative MG). This study examined the prevalence of clustered AChR, MuSK, and LRP4 autoantibodies in a large German cohort of seronegative MG patients using a live cell-based assay. Out of 67 SNMG patients, 4.5% had clustered AChR autoantibodies, with two patients showing binding to both adult and fetal AChR. None of the patients tested positive for MuSK or LRP4 autoantibodies. Clinical characteristics were similar between patients with and without clustered AChR autoantibodies. Comparisons with a national MG registry showed broad similarities among seronegative MG patients in both cohorts.
NEUROMUSCULAR DISORDERS
(2023)
Article
Clinical Neurology
Felix Ehret, Alexander Hansch, Jenny Meinhardt, Elisabeth Gertrud Hain, Martin Misch, Julia Onken, Siyer Roohani, Arend Koch, Leonille Schweizer, Josefine Radke, David Kaul
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Clinical Neurology
Leonille Schweizer, Philipp Seegerer, Hee-yeong Kim, Rene Saitenmacher, Amos Muench, Liane Barnick, Anja Osterloh, Carsten Dittmayer, Ruben Jodicke, Debora Pehl, Annekathrin Reinhardt, Klemens Ruprecht, Werner Stenzel, Annika K. Wefers, Patrick N. Harter, Ulrich Schueller, Frank L. Heppner, Maximilian Alber, Klaus-Robert Mueller, Frederick Klauschen
Summary: The researchers developed an image analysis approach using a convolutional neural network to classify cerebrospinal fluid, providing a more efficient and accurate alternative to the current manual examination method.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Clinical Neurology
Sinja Vogt, Felix Kleefeld, Corinna Preusse, Gabriele Arendt, Stefan Bieneck, Anna Brunn, Martina Deckert, Benjamin Englert, Hans-Hilmar Goebel, Anja Masuhr, Eva Neuen-Jacob, Cornelia Kornblum, Jens Reimann, Federica Montagnese, Benedikt Schoser, Werner Stenzel, Katrin Hahn
Summary: This study compared the clinical, histopathological, and transcriptomic characteristics of sporadic inclusion body myositis (sIBM) and HIV-associated IBM (HIV-IBM). The presence of KLRG1(+) cells was found to differentiate sIBM from HIV-IBM, suggesting a longer disease duration and T-cell stimulation in sIBM.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Chi D. L. Nguyen, Aura Cecilia Jimenez-Moreno, Monika Merker, Charles Joseph Bowers, Nikoletta Nikolenko, Andreas Hentschel, Thomas Muentefering, Angus Isham, Tobias Ruck, Matthias Vorgerd, Vera Dobelmann, Genevieve Gourdon, Ulrike Schara-Schmidt, Andrea Gangfuss, Charlotte Schroeder, Albert Sickmann, Claudia Gross, Grainne Gorman, Werner Stenzel, Laxmikanth Kollipara, Denisa Hathazi, Sally Spendiff, Cynthia Gagnon, Corinna Preusse, Elise Duchesne, Hanns Lochmueller, Andreas Roos
Summary: This study aimed to identify a blood biomarker for patients with myotonic dystrophy type 1 (DM1). The results showed that Periostin may serve as a novel biomarker for DM1, correlating with disease severity, cardiac dysfunction, and fibrosis.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Felix Kleefeld, Andreas Hentschel, Arpad von Moers, Katrin Hahn, Rita Horvath, Hans-Hilmar Goebel, Corinna Preusse, Jens Schallner, Markus Schuelke, Andreas Roos, Werner Stenzel
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Immunology
Leonie Mueller-Jensen, Samuel Knauss, Lorena Ginesta Roque, Christian Schinke, Smilla K. Maierhof, Frederik Bartels, Carsten Finke, Kristin Rentzsch, Claas Ulrich, Raphael Mohr, Werner Stenzel, Matthias Endres, Wolfgang Boehmerle, Petra Huehnchen
Summary: In this study, the characteristics and clinical significance of neuronal autoantibodies in patients treated with immune checkpoint inhibitors (ICI) were investigated. It was found that the prevalence of neuromuscular autoantibodies was higher in patients with irAE-n compared to those without irAE-n. However, the pathogenic significance of brain-reactive autoantibodies in ICI-treated patients remains unclear.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Pathology
Anne Schaenzer, Carsten Dittmayer, Stefan Porubsky, Joachim Weis, Hans-Hilmar Goebel, Werner Stenzel
Summary: Muscle diseases can occur in both childhood and adulthood and can be hereditary or acquired. Ultrastructural alterations in these diseases help in understanding the pathology. Specific changes in sarcomere structure aid in the classification of congenital myopathies, while the detection of cellular aggregates supports the diagnosis of myositis. Pathologically altered mitochondria are seen in both genetic mitochondriopathies and acquired muscle diseases. Ultrastructural analysis of the myocardium is also useful in diagnosing hereditary cardiomyopathies in childhood. This review article focuses on the ultrastructural features of different muscle diseases and pathognomonic findings in specific disease groups.
Article
Clinical Neurology
Felix Kleefeld, Andreas Hentschel, Arpad von Moers, Katrin Hahn, Rita Horvath, Hans-Hilmar Goebel, Corinna Preusse, Jens Schallner, Markus Schuelke, Andreas Roos, Werner Stenzel
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Pathology
Anne Schaenzer, Carsten Dittmayer, Joachim Weis, Werner Stenzel, Hans-Hilmar Goebel
Summary: Although electron microscopic analyses are now rare in diagnosing diseases of the central and peripheral nervous systems, they still have value in confirming the etiopathogenesis of certain diseases. Hereditary neurodegenerative and metabolic diseases, such as neuronal ceroid lipofuscinosis, are characterized by specific storage products in both the central nervous system and extracerebral tissues. These accessible tissues can serve as windows to the central nervous system. Additionally, new methods that overcome the limitations of conventional electron microscopy may improve ultrastructural diagnostics, especially for the classification of viral particles like SARS-CoV-2 and the understanding of COVID19-associated diseases in the central nervous system and peripheral nervous system.
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)