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Biallelic variants in RBM42 cause a multisystem disorder with neurological,facial,cardiac,and musculoskeletal involvement

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Protein & Cell 2024年第1期15卷 52-68页

作者： Yiyao Chen Bingxin Yang Xiaoyu Merlin Zhang Songchang Chen Minhui Wang Liya Hu Nina Pan Shuyuan Li Weihui Shi Zhenhua Yang Li Wang Yajing Tan Jian Wang Yanlin Wang Qinghe Xing Zhonghua Ma Jinsong Li He-Feng Huang Jinglan Zhang Chenming Xu Institutes of Biomedical Sciences Fudan UniversityShanghai 200032China bstetrics and Gynecology Hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200011China Intermational Peace Matermity and Child Health Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200030China Shanghai Key Laboratory of Embryo Original Diseases Shanghai 200030China State Key Laboratory of Cell biology Shanghai Key Laboratory of Molecular AndrologyShanghai Institute of Biochemistry and Cell BiologyCAS Center for Excellence in Molecular Cell ScienceUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghai 200031China State Key Laboratory of Rice biology the Key Laboratory of Molecular Biology of Crop Pathogens and InsectsInstitute of BiotechnologyZhejiang UniversityHangzhou 310058China Verna and Marrs McLean department of biochemistry and molecular biology Baylor College of MedicineHoustonTX 77030USA Children's hospital of Fudan University Shanghai 201102China School of Life Science and Technology Shanghai Tech UniversityShanghai 201210China School of Life Science Hangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhou 310024ZhejiangChina Research Units of Embryo Original Diseases Chinese Academy of Medical Sciences(No.2019RU056)Shanghai 200011China

Here,we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 *** patient is a 2-year-old female with severe central nervous system(CNs)abnormalities,hypotonia,hearing loss,congenital heart defects,and dysmorphic facial *** whole-exome sequencing(WEs)reveals that the patient has two compound heterozygous variants,c.304C>T(p.R102*)and c.1312G>A(p.A438T),in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein *** p.A438T variant is in the RRM domain which impairs RBM42 pro-tein stability in ***,p.A438T disrupts the interaction of RBM42 with hnRNP K,which is the causa-tive gene for Au-Kline syndrome with overlapping disease characteristics seen in the index *** human R102*or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout△FgRbp1 in Fusarium while it was rescued by the wild-type(WT)human RBM42.A mouse model carying Rbm42 compound heterozygous variants,c.280C>T(p.Q94*)and c.1306_1308delinsACA(p.A436T),demonstrated gross fetal develop-mental defects and most of the double mutant animals died by ***-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing(As).Overall,we present clinical,genetic,and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.

关键词： RBM42 gene RNA-binding protein neurodevelopmental disorder Au-Kline syndrome alternative splicing

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Is the speed of adjusting to environmental change condition dependent?An experiment with house mice(Mus musculus)

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Current Zoology 2024年第3期70卷 350-360页

作者： Karem Lopez-Hervas Neelam Porwal Mathilde Delacoux Alexandros Vezyrakis Anja Guenther RG Behavioural Ecology of Individual Differences Max Planck Institute for Evolutionary Biology24306 PlönGermany department of Evolutionary biology Faculty of BiologyAdam Mickiewicz UniversityWieniawskiego 161-712 PoznańPoland department for Collective Behaviour Max Planck Institute of Animal Behaviour78464 ConstanceGermany Centre for the Advanced Study of Collective Behaviour University of Konstanz78464 ConstanceGermany Animal Ecology Institute for Biochemistry and BiologyUniversity of Potsdam14469 PotsdamGermany

Environmental conditions change constantly either by anthropogenic perturbation or naturally across space and ***,a change in behavior is the frst response to changing *** fexibility can potentially improve an organism’s chances to survive and ***,we lack an understanding on the time-scale such behavioral adjustments need,how they actually affect reproduction and survival and whether behavioral adjustments are suffcient in keeping up with changing *** used house mice(Mus musculus)to test whether personality and life-history traits can adjust to an experimentally induced food-switch fexibly in adulthood or by intergenerational plasticity,that is,adjustments only becoming visible in the offspring *** lived in 6 experimental populations of semi-natural environments either on high or standard quality food for 4 *** showed previously that high-quality food induced better conditions and a less risk-prone ***,we tested whether the speed and/or magnitude of adjustment shows condition-dependency and whether adjustments incur ftness ***-history but not personality traits reacted fexibly to a food-switch,primarily by a direct reduction of reproduction and sloweddown *** whose parents received a food-switch developed a more active stress-coping personality and gained weight at a slower rate compared with their respective ***,the modulation of most traits was condition-dependent,with animals previously fed with high-quality food showing stronger *** study highlights that life-history and personality traits adjust at different speed toward environmental change,thus,highlighting the importance of the environment and the mode of response for evolutionary models.

关键词： animal personality context dependence environmental change Match-mismatch non-genetic inheritance phenotypic flexibility phenotypic plasticity.

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The gasdermin family:emerging therapeutic targets in diseases

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Signal Transduction and Targeted Therapy 2024年第5期9卷 1905-1937页

作者： Chenglong Zhu Sheng Xu Ruoyu Jiang Yizhi Yu Jinjun Bian Zui Zou Faculty of Anesthesiology Changhai HospitalNaval Medical UniversityShanghai 200433China School of Anesthesiology Naval Medical UniversityShanghai 200433China National Key Laboratory of Immunity&Inflammation Naval Medical UniversityShanghai 200433China d 4 department of biochemistry and molecular biology College of Basic Medical SciencesNaval Medical UniversityShanghai 200433China

The gasdermin(GSDM)family has garnered significant attention for its pivotal role in immunity and disease as a key player in *** recently characterized class of pore-forming effector proteins is pivotal in orchestrating processes such as membrane permeabilization,pyroptosis,and the follow-up inflammatory response,which are crucial self-defense mechanisms against irritants and *** have been implicated in a range of diseases including,but not limited to,sepsis,viral infections,and cancer,either through involvement in pyroptosis or independently of this *** regulation of GSDM-mediated pyroptosis is gaining recognition as a promising therapeutic strategy for the treatment of various *** strategies for inhibiting GSDMD primarily involve binding to GSDMD,blocking GSDMD cleavage or inhibiting GSDMD-N-terminal(NT)oligomerization,albeit with some off-target *** this review,we delve into the cutting-edge understanding of the interplay between GSDMs and pyroptosis,elucidate the activation mechanisms of GSDMs,explore their associations with a range of diseases,and discuss recent advancements and potential strategies for developing GSDMD inhibitors.

关键词： diseases therapeutic immunity

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Expanding through the Emerald Isle:exploration and spatial orientation of non-native bank voles in Ireland

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Current Zoology 2024年第3期70卷 320-331页

作者： Valeria Mazza Jana AEccard Animal Ecology Institute for Biochemistry and BiologyUniversity of PotsdamMaulbeerallee 114469PotsdamGermany and department of Ecological and Biological Sciences University of TusciaLargo dell'Università10100 ViterboItaly

Whether introduced into a completely novel habitat or slowly expanding their current range,the degree to which animals can effciently explore and navigate new environments can be key to survival,ultimately determining population establishment and colonization *** tested whether spatial orientation and exploratory behavior are associated with non-native spread in free-living bank voles(Myodes glareolus,N=43)from a population accidentally introduced to Ireland a century *** measured spatial orientation and navigation in a radial arm maze,and behaviors associated to exploratory tendencies and risk-taking in repeated open-feld tests,at the expansion edge and in the source *** voles at the expansion edge re-visited unrewarded arms of the maze more,waited longer before leaving it,took longer to start exploring both the radial arm maze and the open feld,and were more risk-averse compared to conspecifcs in the source *** together,results suggest that for this small mammal under heavy predation pressure,a careful and thorough exploration strategy might be favored when expanding into novel environments.

关键词： animal personality biological invasions exploration behavior Myodes glareolus range expansion spatial orientation.

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Making topological protein links using enzymatic reactions

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National Science Review 2024年第3期11卷 50-51页

作者： Roger Castells-Graells Todd O.Yeates department of Chemistry and biochemistry University of California UCLA-DOE Institute for Genomics and Proteomics

Proteins are exceedingly complex molecules though, at their heart, they are essentially linear polymers. Pull at their ends and one obtains an extended backbone. While that is true in most cases, some natural proteins... 详细信息

关键词： DESIGN

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Role of fullerenols derivative 3HFWC in the treatment of Alzheimer's disease

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Neural Regeneration Research 2024年第8期19卷 1641-1642页

作者： Sanja Ivkovic Djuro Koruga department of molecular biology and Endocrinology “VINCA”Institute of Nuclear Sciences-National Institute of Republic of SerbiaUniversity of BelgradeBeogradSrbija TFT Nano Center BelgradeSerbia

Fullerenes:The extensive development of nanoscience that has marked this century continues to evolve,producing new materials,structures,and devices for the treatments of diverse *** are a family of nanoparticles with great applicative promise due to their small size(approximately 1 nm in diameter),structure,and capacity to cross biological barriers.

关键词： treatment evolve size

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Aldo-keto reductases:Role in cancer development and theranostics

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Oncology Research 2024年第8期32卷 1287-1308页

作者： SIDDAVARAM NAGINI PRATHAP REDDY KALLAMADI KRANTHI KIRAN KISHORE TANAGALA GEEREDDY BHANUPRAKASH REDDY World Neem Organization Mumbai400101India department of biochemistry ICMR-National Institute of NutritionHyderabad500007India department of Pathology and Cell biology Columbia University Irving Medical CenterNew York10032USA

Aldo-keto reductases(AKRs)are a superfamily of enzymes that play crucial roles in various cellular processes,including the metabolism of xenobiotics,steroids,and carbohydrates.A growing body of evidence has unveiled the involvement of AKRs in the development and progression of various *** are aberrantly expressed in a wide range of malignant *** expression of AKRs enables the acquisition of hallmark traits of cancer by activating oncogenic signaling pathways and contributing to *** have emerged as promising oncotherapeutic targets given their pivotal role in cancer development and *** of aldose reductase(AR),either alone or in combination with chemotherapeutic drugs,has evolved as a pragmatic therapeutic option for *** classes of synthetic aldo-keto reductase(AKR)inhibitors have been developed as potential anticancer agents,some of which have shown promise in clinical *** AKR inhibitors from natural sources also exhibit anticancer *** molecule inhibitors targeting speciﬁc AKR isoforms have shown promise in preclinical *** inhibitors disrupt the activation of oncogenic signaling by modulating transcription factors and kinases and sensitizing cancer cells to *** this review,we discuss the physiological functions of human AKRs,the aberrant expression of AKRs in malignancies,the involvement of AKRs in the acquisition of cancer hallmarks,and the role of AKRs in oncogenic signaling,and drug ***,the potential of aldose reductase inhibitors(ARIs)as anticancer drugs is summarized.

关键词： Aldo-keto reductases(AKRs) Aldo-keto reductase(AKR)inhibitors Cancer Drug-resistance Xenobiotics

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Exploring unconventional attributes of red blood cells and their potential applications in biomedicine

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Protein & Cell 2024年第5期15卷 315-330页

作者： Alkmini T.Anastasiadi Vasiliki-Zoi Arvaniti Krystalyn E.Hudson Anastasios G.Kriebardis Constantinos Stathopoulos Angelo D’Alessandro Steven L.Spitalnik Vassilis L.Tzounakas department of biochemistry School of MedicineUniversity of Patras26504 PatrasGreece department of Pathology and Cell biology Columbia University Irving Medical CenterNew York CityNY 10032USA Laboratory of Reliability and Quality Control in Laboratory Hematology(HemQcR) Department of Biomedical SciencesSchool of Health&Caring SciencesUniversity of West Attica(UniWA)12243 EgaleoGreece department of biochemistry and molecular Genetics University of Colorado Anschutz Medical Campus13001 AuroraCOUSA Present address:Institute for Fundamental Biomedical Research(IFBR) Biomedical Sciences Research Center“Alexander Fleming”Vari11527 AthensGreece

We need to talk about red blood *** cells are defined as cells containing distinct nuclei and other membranous ***,red blood cells(RBCs)lack a nucleus and organelles—perhaps to limit the generation of reactive oxygen species(Zhang et al.,2011)—and are filled with hemoglobin(Hb).This oxygen carrier is limited to the cytosol by the cell membrane and cytoskeleton,which maintain cellular integrity and deformability as RBCs pass through narrow capillaries(Gratzer,1994)to perform their primary function of gas exchange.

关键词： membranous maintain

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Systematic pan-cancer analysis reveals OGT and OGA as potential biomarkers for tumor microenvironment and therapeutic responses

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Genes & Diseases 2024年第4期11卷 1-4页

作者： Chunyan Hou Ci Wu Wenge Zhu Huadong Pei Junfeng Ma department of Oncology Lombardi Comprehensive Cancer CenterGeorgetown UniversityWashingtonDC 20007USA department of biochemistry and molecular Medicine School of Medicine and Health ScienceGeorge Washington UniversityWashingtonDC20052USA

Protein O-linkedβ-N-acetylglucosamine(O-GlcNAc)modification(O-GlcNAcylation)is a unique monosaccharide modification of essential importance in physiology and pathology.1,2 As a highly dynamic process,O-GlcNAcylation is mediated by two paired enzymes:O-GlcNAc transferase(OGT)and O-GlcNAcase(OGA),which add or remove the modification from proteins,*** evidence demonstrates that the aberrant O-GlcNAcylation underlies the initiation,progression,and metastasis of cancer.

关键词： metastasis pathology therapeutic

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Electrobiocorrosion by microbes without outer-surface cytochromes

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mLife 2024年第1期3卷 110-118页

作者： Dawn E.Holmes Trevor L.Woodard Jessica A.Smith Florin Musat Derek R.Lovley department of Microbiology University of Massachusetts AmherstAmherstMassachusettsUSA department of Physical and Biological Science Western New England UniversitySpringfieldMassachusettsUSA department of Biomolecular Sciences Central Connecticut State UniversityNew BritainConnecticutUSA department of biology Section for MicrobiologyAarhus UniversityAarhusDenmark department of molecular biology and Biotechnology Facuity of Biology and GeologyBabes-Bolyai UniversityCluj-NapocaRomania

Anaerobic microbial corrosion of iron-containing metals causes extensive economic *** microbes are capable of direct metal-to-microbe electron transfer(electrobiocorrosion),but the prevalence of electrobiocorrosion among diverse methanogens and acetogens is poorly understood because of a lack of tools for their genetic *** studies have suggested that respiration with 316L stainless steel as the electron donor is indicative of electrobiocorrosion,because,unlike pure Fe^(0),316L stainless steel does not abiotically generate H_(2) as an intermediary electron ***,we report that all of the methanogens(Methanosarcina vacuolata,Methanothrix soehngenii,and Methanobacterium strain IM1)and acetogens(Sporomusa ovata and Clostridium ljungdahli)evaluated respired with pure Fe^(0)as the electron donor,but only ***,***,and *** were capable of stainless steel *** electrobiocorrosive methanogens re-quired acetate as an additional energy source in order to produce methane from stainless *** of *** and *** demonstrated how acetogens can provide acetate to methanogens during *** only was Meth-anobacterium strain IM1 not capable of electrobiocorrosion,but it also did not accept electrons from Geobacter metal-lireducens,an effective electron-donating partner for direct interspecies electron transfer to all methanogens that can directly accept electrons from Fe^(0).The finding that ***,***,and *** are capable of electrobiocorrosion,despite a lack of the outer-surface c-type cytochromes previously found to be important in other electrobiocorrosive microbes,demonstrates that there are multiple microbial strategies for making electrical contact with Fe^(0).

关键词： acetogen corrosion Fe^(0) methanogen stainless steel

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