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A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

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Genes & Diseases 2021年第1期8卷 73-78页

作者： Daniela Tavian Lorenzo Maggi Marina Mora Lucia Morandi Cinzia Bragato Sara Missaglia Laboratory of Cellular Biochemistry and Molecular Biology CRIBENSUniversita`Cattolica del Sacro Cuorepz Buonarroti 30Milan20145Italy Department of Psychology Universita`Cattolica del Sacro CuoreLargo Gemelli 1Milan20123Italy Neuromuscular Diseases and Neuroimmunology Unit Fondazione IRCCS Istituto Neurologico“Carlo Besta”MilanItaly PhD program in Neuroscience University of Milano-BicoccaVia Cadore 48Monza20900Italy

Neutral lipid storage disease with myopathy(NLSDM)is a rare autosomal recessive disorder,due to an enzymatic error of lipid *** present always with skeletal muscle myopathy and variable cardiac and hepatic *** is caused by mutations in the PNPLA2 gene,which encodes the adipose triglyceride lipase(ATGL).Here we report the molecular characterization and clinical findings of two NLSDM siblings carrying the novel c.187t1G>C homozygous PNPLA2 mutation,localized in the splice site of intron *** analyses revealed that neither aberrant PNPLA2 mRNA isoforms,nor ATGL mutated protein were detectable in patient’s ***,both patients presented early onset muscle weakness,in particular of proximal upper limb *** almost 15 years,muscle damage affected also distal upper *** is a NLSDM family,displaying a severe PNPLA2 mutation in two siblings with clinical presentation characterized by an early onset,but a slowly evolution of severe myopathy.

关键词： Cardiomyopathy Lipid metabolism Neutral lipid storage disease with myopathy PNPLA2 Splicing mutation Triglyceride lipase

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BPS2025 - Analysis of the steady states of systems of dynamic microtubules: Polymer length distribution steady state

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Biophysical Journal 2025年第3期124卷 139a-139a页

作者： Alexander W. Simmons Sayandeepa Raha Theodore N. Berente Holly V. Goodson Department of Chemistry and Biochemistry University of Notre Dame Notre Dame IN USA Biophysics PhD Program University of Notre Dame Notre Dame IN USA Integrated Biomedical Sciences PhD Program University of Notre Dame Notre Dame IN USA QuarkNet University of Notre Dame Notre Dame IN USA St. Joseph High School South Bend IN USA

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The mystery of phospho-Drp1 with four adaptors in cell cycle: when mitochondrial fission couples to cell fate decisions

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Cell Cycle 2023年第21-22期22卷 2485-2503页

作者： Wu, Nian-Siou Ma, I-Chu Lin, Yi-Fan Ko, Huey-Jiun Loh, Joon-Khim Hong, Yi-Ren Department of Education Hsin-Chu Branch National Taiwan University Hospital Hsinchu Taiwan PhD Program in Molecular Medicine National Tsing Hua University Hsinchu Taiwan Division of Neurology China Medical University Hospital Taichung Taiwan Department of Education National Taiwan University Hospital Taipei Taiwan Department of Biochemistry College of Medicine Kaohsiung Medical University Kaohsiung Taiwan Department of Neurosurgery Kaohsiung Medical University Hospital Kaohsiung Taiwan Graduate Institutes of Medicine College of Medicine Kaohsiung Medical University Kaohsiung Taiwan Department of Biological Sciences National Sun Yat-Sen University Kaohsiung Taiwan Department of Medical Research Kaohsiung Medical University Hospital Kaohsiung Taiwan Center for Cancer Research Kaohsiung Medical University Kaohsiung Taiwan Neuroscience Research Center Kaohsiung Medical University Kaohsiung Taiwan

Recent study had deepened our knowledge of the mitochondrial dynamics to classify mitochondrial fission into two types. To further clarify the relationship between the two distinct fission machinery and the four major adaptors of Drp1, we propose a model of mechanism elucidating the multiple functions of phospho-Drp1 with its adaptors during cell cycle and providing in-depth insights into the molecular basis and evolutionary implications in depth. The model highlights not only the clustering characteristics of different phospho-Drp1 with respective subsets of mitochondrial pro-fission adaptors but also the correlation, crosstalk and shifting between different clustering of phosphorylated Drp1-adaptors during different key fission situations. Particularly, phospho-Drp1 (Ser616) couples with Mff/MiD51 to exert mitochondrial division and phospho-Drp1 (Ser637) couples with MiD49/Fis1 to execute mitophagy in M-phase. We then apply the model to address the relationship of mitochondrial dynamics to Parkinson’s disease (PD) and carcinogenesis. Our proposed model is indeed compatible with current research results and pathological observations, providing promising directions for future treatment design. © 2023 Informa UK Limited, trading as Taylor & Francis Group.

关键词： cell cycle Drp1 Mitochondrial Adaptors mitophagy phosphorylation

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biochemistry Tau fibrils evade autophagy by excessive p62 coating and TAX1BP1 exclusion

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Science Advances 2024年第24期10卷

作者： Ferrari, Luca Bauer, Bernd Qiu, Yue Schuschnig, Martina Klotz, Sigrid Anrather, Dorothea Juretschke, Thomas Beli, Petra Gelpi, Ellen Martens, Sascha Dr.-Bohr- Gasse 9 Vienna1030 Austria University of Vienna Max Perutz Labs Department of Biochemistry and Cell Biology Dr.-Bohr- Gasse 9 Vienna1030 Austria Vienna BioCenter PhD Program Doctoral School of the University of Vienna Medical University of Vienna Campus-Vienna- Biocenter 1 Vienna1030 Austria Division of Neuropathology and Neurochemistry Department of Neurology Medical University of Vienna Vienna1090 Austria Dr.-Bohr- Gasse 9 Vienna1030 Austria Institute of Molecular Biology Mainz55128 Germany Johannes Gutenberg-Universität Mainz55128 Germany

The accumulation of protein aggregates is a hallmark of many diseases, including Alzheimer’s disease. As a major pillar of the proteostasis network, autophagy mediates the degradation of protein aggregates. The autophagy cargo receptor p62 recognizes ubiquitin on proteins and cooperates with TAX1BP1 to recruit the autophagy machinery. Paradoxically, protein aggregates are not degraded in various diseases despite p62 association. Here, we reconstituted the recognition by the autophagy receptors of physiological and pathological Tau forms. Monomeric Tau recruits p62 and TAX1BP1 via the sequential actions of the chaperone and ubiquitylation machineries. In contrast, Tau fibrils from Alzheimer’s disease brains are recognized by p62 but fail to recruit TAX1BP1. This failure is due to the masking of fibrils ubiquitin moieties by p62. Tau fibrils are resistant to deubiquitylation, and, thus, this nonproductive interaction of p62 with the fibrils is irreversible. Our results shed light on the mechanism underlying autophagy evasion by protein aggregates and their consequent accumulation in disease. © 2024 the Authors, some rights reserved

关键词： Proteins

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SKA2/FAM33A:A novel gene implicated in cell cycle,tumorigenesis,and psychiatric disorders

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Genes & Diseases 2019年第1期6卷 25-30页

作者： Mengyu Xie Youquan Bu Department of Biochemistry and Molecular Biology College of Basic Medical SciencesChongQing Medical UniversityChongqing400016China Cancer Biology PhD Program University of South FloridaTampaFL33612USA

SKA2(spindle and KT associated 2),also referred to as FAM33A(family with sequence similarity 33,member A),is a recently identified gene involved in cell cycle regulation,and growing evidence is implicating its roles in tumorigenesis and psychiatric *** has been demonstrated that SKA2,along with its coworkers SKA1 and SKA3,constitutes the SKA complex which plays a critical role in the maintenance of the metaphase plate and/or spindle checkpoint silencing during ***2 is over-expressed both in cancer cell lines and clinical samples including small cell lung cancer and breast cancer,whereas downregulation of SKA2 is associated with depression and suicidal *** expression of SKA2 is regulated by transcription factors including NF-kB and CREB,miRNAs as well as DNA *** this review,we provide an overview of studies that reveal SKA2 gene and protein characteristics as well as physiological function,with a special focus on its transcription regulatory mechanisms,and also provide a summary regarding the translational opportunity of the SKA2 gene as a clinical biomarker for cancers and psychiatric disorders.

关键词： SKA2 FAM33A Cell cycle Tumor Gene expression regulation DNA methylation

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Circular RNA in liquid biopsy as biomarkers toward precision medicine

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Molecular therapy. Nucleic acids 2023年 31卷 689-690页

作者： Yueh-Chun Lee Huey-En Tzeng Hui-Hsuan Lin Kuei-Yang Hsiao Department of Radiation Oncology Chung Shan Medical University Hospital Taichung 40201 Taiwan. School of Medicine Chung Shan Medical University Taichung 40201 Taiwan. Division of Hematology and Medical Oncology Taichung Veterans General Hospital Taichung 40705 Taiwan. Department of Medicine Taichung Veterans General Hospital Taichung 40705 Taiwan. Precision Medicine Center Taichung Veterans General Hospital Taichung 40705 Taiwan. PhD Program in Tissue Engineering and Regenerative Medicine National Chung Hsing University Taichung 40227 Taiwan. Institute of Biochemistry College of Life Sciences National Chung Hsing University Taichung 40227 Taiwan. PhD Program in Translational Medicine College of Life Sciences National Chung Hsing University Taichung 40227 Taiwan. Rong Hsing Research Center for Translational Medicine College of Life Sciences National Chung Hsing University Taichung 40227 Taiwan.

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Entschlüsselung des Fucose-Migrationsproduktes bei der Massenspektrometrischen Analyse von Blutgruppenepitopen

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Angewandte Chemie 2023年第24期135卷

作者： Maike Lettow Kim Greis Eike Mucha Tyler R. Lambeth Murat Yaman Vasilis Kontodimas Christian Manz Waldemar Hoffmann Gerard Meijer Ryan R. Julian Gert von Helden Mateusz Marianski Kevin Pagel Fritz-Haber-Intitut der Max-Planck-Gesellschaft Deutschland Institute of Chemistry and Biochemistry Freie Universität Berlin Deutschland Department of Chemistry University of California Riverside USA Department of Chemistry and Biochemistry Hunter College The City University of New York USA The PhD Program in Chemistry and Biochemistry The Graduate Center The City University of New York USA

Fucose ist ein signalgebendes Kohlenhydrat, das am Ende der Glykosylierung angehängt wird. Es ist an einer Reihe von Prozessen beteiligt, z. B. an der Selectin-abhängigen Leukozytenadhäsion oder an Pathogen-Rezeptor-Interaktionen. Massenspektrometrische Verfahren, die üblicherweise zur Bestimmung der Struktur von Glykanen eingesetzt werden, zeigen häufig Fucose-haltige, chimäre Fragmente, die die Analyse verzerren. Die Umlagerung, die zu diesen Fragmenten führt – oft als Fucose-Migration bezeichnet – ist seit mehr als 25 Jahren bekannt, aber die chemische Identität des Umlagerungsproduktes bleibt unklar. In dieser Arbeit kombinieren wir Ionenmobilitätsspektrometrie, Massenspektrometrie mit radikalinduzierter Dissoziation, kryogene IR-Spektroskopie und Computersimulationen mittels Dichtefunktionaltheorie, um das Produkt der Umlagerung der prototypischen Trisaccharide Lewis x und Blutgruppe H2 zu bestimmen. Die Struktursuche ergibt, dass die Fucose, die mit einer α (1→6)-glykosidischen Bindung an die Galaktose gebunden ist, das wahrscheinlichste Produkt ist.

关键词： Dichtefunktionatheorie IR-Spektroskopie Ionen in Der Gasphase Kohlenhydrate Massenspektrometrie

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Animal Models of Malaria-Associated Acute Kidney Injury

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Seminars in Nephrology 2025年 151616页

作者： Mamudu, Collins Ojonugwa Polidoro, Rafael Gallego-Delgado, Julio Department of Biological Sciences Lehman College City University of New York Bronx New York NY United States PhD Program in Biochemistry The Graduate Center City University of New York New York NY United States Department of Pediatrics Ryan White Center for Pediatric Infectious Diseases and Global Health Herman B Wells Center for Pediatric Research Indiana University School of Medicine Indianapolis IN United States PhD Program in Biology The Graduate Center City University of New York New York NY United States

Malaria-associated acute kidney injury (MAKI) is a critical complication of severe malaria, particularly in infections caused by Plasmodium falciparum, which is responsible for most malaria-related deaths. MAKI affects 40-60% ofs severe malaria cases, significantly increasing mortality, especially in pediatric patients. Its pathogenesis remains unclear, though mechanisms such as hemodynamic disturbances, oxidative stress, and immune responses are implicated. Animal models, particularly murine and nonhuman primates, provide valuable insights into MAKI's underlying processes. Murine models, though not fully replicative of human malaria, allow for the exploration of immune responses, kidney injury biomarkers, and therapeutic approaches. Nonhuman primate models, closer to human physiology, offer additional complexity for studying malaria's renal manifestations. This review critically examines the existing animal models, addressing their strengths and limitations in replicating human MAKI and highlighting the importance of advancing research in this field to develop targeted treatments. Semin Nephrol 36:x-xx © 20XX Elsevier Inc. All rights reserved. © 2025

关键词： acute kidney injury Malaria malaria animal models murine nonhuman primate

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An atlas of single-cell eQTLs dissects autoimmune disease genes and identifies novel drug classes for treatment

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Cell Genomics 2025年第4期5卷 100820-100820页

作者： Wang, Lida Markus, Havell Chen, Dieyi Chen, Siyuan Zhang, Fan Gao, Shuang Khunsriraksakul, Chachrit Chen, Fang Olsen, Nancy Foulke, Galen Jiang, Bibo Carrel, Laura Liu, Dajiang J. Department of Public Health Sciences Pennsylvania State University College of Medicine Hershey 17033 PA United States Bioinformatics and Genomics PhD Program Pennsylvania State University College of Medicine Hershey 17033 PA United States Institute for Personalized Medicine Pennsylvania State University College of Medicine Hershey 17033 PA United States Department of Biochemistry and Molecular Biology Pennsylvania State University College of Medicine Hershey 17033 PA United States Department of Medicine Penn State University College of Medicine Hershey 17033 PA United States Department of Dermatology Penn State University College of Medicine Hershey 17033 PA United States

Most variants identified from genome-wide association studies (GWASs) are non-coding and regulate gene expression. However, many risk loci fail to colocalize with expression quantitative trait loci (eQTLs), potentially due to limited GWAS and eQTL analysis power or cellular heterogeneity. Population-scale single-cell RNA-sequencing (scRNA-seq) datasets are emerging, enabling mapping of eQTLs in different cell types (sc-eQTLs). Compared to eQTL data from bulk tissues (bk-eQTLs), sc-eQTL datasets are smaller. We propose a joint model of bk-eQTLs as a weighted sum of sc-eQTLs (JOBS) from constituent cell types to improve power. Applying JOBS to One1K1K and eQTLGen data, we identify 586% more eQTLs, matching the power of 4× the sample sizes of OneK1K. Integrating sc-eQTLs with GWAS data creates an atlas for 14 immune-mediated disorders, colocalizing 29.9% or 32.2% more loci than using sc-eQTL or bk-eQTL alone. Extending JOBS, we develop a drug-repurposing pipeline and identify novel drugs validated by real-world data. © 2025 The Author(s)

关键词： autoimmune disease bulk eQTL colocalization drug repurposing GWAS scRNAseq sequencing design single cell eQTL transcriptome

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Enhanced IGF-IIRα Expression Exacerbates Lipopolysaccharide-Induced Cardiac Inflammation, Hypertrophy, and Apoptosis Through Calcineurin Activation

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Environmental Toxicology 2024年第11期39卷 5173-5186页

作者： Boonha, Khwanchit Kuo, Wei-Wen Tsai, Bruce Chi-Kang Hsieh, Dennis Jine-Yuan Lin, Kuan-Ho Lu, Shang-Yeh Kuo, Chia-Hua Yang, Liang-Yo Huang, Chih-Yang Graduate Institute of Biomedical Sciences China Medical University Taichung Taiwan Cardiovascular and Mitochondrial Related Disease Research Center Hualien Tzu Chi Hospital Buddhist Tzu Chi Medical Foundation Hualien Taiwan Faculty of Tropical Medicine Mahidol University Bangkok Thailand Department of Biological Science and Technology College of Life Sciences China Medical University Taichung Taiwan PhD Program for Biotechnology Industry China Medical University Taichung Taiwan School of Pharmacy China Medical University Taichung Taiwan Department of Medical Laboratory and Biotechnology Chung Shan Medical University Taichung Taiwan Clinical Laboratory Chung Shan Medical University Hospital Taichung Taiwan Department of Emergency Medicine China Medical University Hospital Taichung Taiwan College of Medicine China Medical University Taichung Taiwan Division of Cardiovascular Medicine Department of Internal Medicine China Medical University Hospital Taichung Taiwan Laboratory of Exercise Biochemistry University of Taipei Taipei Taiwan Institute of Sports Sciences University of Taipei Taipei Taiwan Department of Kinesiology and Health Science College of William and Mary WilliamsburgVA United States School of Physical Education and Sports Science Soochow University Suzhou China Department of Physiology School of Medicine College of Medicine China Medical University Taichung Taiwan Laboratory for Neural Repair China Medical University Hospital Taichung Taiwan Department of Medical Research China Medical University Hospital China Medical University Taichung Taiwan Department of Medical Laboratory Science and Biotechnology Asia University Taichung Taiwan Center of General Education Buddhist Tzu Chi Medical Foundation Tzu Chi University of Science and Technology Hualien Taiwan

Cardiovascular disease is one of the leading causes of death worldwide and has a high prevalence. Insulin-like growth factor-II receptor α (IGF-IIRα) acts as a stress-inducible negative regulator. This study focused on the substantial impact of heightened expression of IGF-IIRα in cardiac myoblasts and its association with the exacerbation of cardiac dysfunction. Using lipopolysaccharide (LPS)-induced H9c2 cardiac myoblasts as a model for sepsis, we aimed to elucidate the molecular interactions between IGF-IIRα and LPS in exacerbating cardiac injury. Our findings demonstrated a synergistic induction of cardiac inflammation and hypertrophy by LPS stimulation and IGF-IIRα overexpression, leading to decreased cell survival. Excessive calcineurin activity, triggered by this combined condition, was identified as a key factor exacerbating the negative effects on cell survival. Cellular changes such as cell enlargement, disrupted actin filaments, and upregulation of hypertrophy-related and inflammation-related proteins contributed to the overall hypertrophic and inflammatory responses. Overexpression of IGF-IIRα also exacerbated apoptosis induced by LPS in H9c2 cardiac myoblasts. Inhibiting calcineurin in LPS-treated H9c2 cardiac myoblasts with IGF-IIRα overexpression effectively reversed the detrimental effects, reducing cell damage and mitigating apoptosis-related cardiac mechanisms. Our study suggests that under sepsis-like conditions in the heart with IGF-IIRα overexpression, hyperactivation of calcineurin worsens cardiac damage. Suppressing IGF-IIRα and calcineurin expression could be a potential intervention to alleviate the impact of the illness and improve cardiac function. © 2024 Wiley Periodicals LLC.

关键词： Heart

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