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Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+overload

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Science China(Life Sciences) 2025年第2期68卷 484-501页

作者： Hongyu Li Qingwen Ma Yan Xue Linlin Cai Liwen Bao Lei Hong Yitao Zeng Shu-Zhen Huang Richard H.Finnell Fanyi Zeng Shanghai institute of Medical Genetics Shanghai Children’s HospitalShanghai Jiao Tong University School of MedicineShanghai 200040China Department of Histo-Embryology Genetics and Developmental BiologyShanghai Jiao Tong University School of MedicineShanghai 200025China NHC Key Laboratory of Medical Embryogenesis and Developmental molecular biology Shanghai Key Laboratory of Embryo and Reproduction EngineeringShanghai 200040China Center for Precision Environmental Health Baylor College of MedicineHouston 77030USA School of Pharmacy Macao University of Science and TechnologyMacao 999078China

Autosomal recessive spinocerebellar ataxias(SCARs)are one of the most common neurodegenerative diseases characterized by progressive *** SCARs are known to be caused by mutations in multiple genes,there are still many cases that go undiagnosed or are *** this study,we presented a SCAR patient,and identified a probable novel pathogenic mutation(c.1A>G,p.M1V)in the AFG3L2 start *** proband's genotype included heterozygous mutations of the compound AFG3L2(p.[M1V];[R632X](c.[1A>G];[1894.C>T])),which were inherited from the father(c.1A>G,p.M1V)and mother(c.1894C>T,p.R632X).Functional studies performed on hi PSCs(human induced pluripotent stem cells)generated from the patients and HEK293T cells showed that the mutations impair mitochondrial function and the unbalanced expression of AFG3L2 mRNA and protein ***,this novel mutation resulted in the degradation of the protein and the reduction of the stability of the AFG3L2 protein,and MCU(mitochondrial calcium uniporter)complex mediated Ca2+overload.

关键词： AFG3L2 gene autosomal recessive spinocerebellar ataxia mitochondrial impairment Ca2+overload

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Unlocking the power of tandem repeat variations to fine-tune rice phenotypes

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Science Bulletin 2025年第3期70卷 297-298页

作者： Kang Chong Key Laboratory of Plant molecular Physiology Institute of BotanyChinese Academy of SciencesBeijing 100093China University of Chinese Academy of Sciences Beijing 100049China

The diversity of crop phenotypes is shaped by numerous genomic *** staple cereals like rice,lots of functional variants,including quantitative trait locus(QTLs),have been identified and used to improve various crop traits(yield,quality,architecture,etc.).To breed ideal crop cultivars for agricultural production,we need more and more precise modulation of phenotypes to obtain desirable *** the past decade,genome editing techniques have enabled us to precisely change crop genome sequences,and also functional variants[1],[2],[3].

关键词： cultivar cereal precise

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Remaking a connection:molecular players involved in post-injury synapse formation

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Neural Regeneration Research 2025年第6期20卷 1719-1720页

作者： Diogo Tomé Ramiro D.Almeida iBiMED-institute of Biomedicine Department of Medical SciencesUniversity of AveiroAveiroPortugal CNC-Center for Neuroscience and Cell biology University of CoimbraCoimbraPortugal

Functional recovery from central nervous system(CNS)trauma depends not only on axon regeneration or compensatory sprouting of uninjured fibers but also on the ability of newly grown axons to establish functional synapses with appropriate *** several studies have successfully promoted long-distance axonal regeneration in distinct CNS injury models,none of them have resulted in a viable therapeutic approach for patient recovery.A possible reason may be the lack of new synaptogenesis for reestablishing the circuitry lost after ***,we discuss how our understanding of the mechanisms that instruct synapse formation in the injured nervous system may contribute to the design of new strategies to promote functional restoration in traumatic CNS disorders.

关键词： viable injury instru

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The miR3367–lncRNA67–GhCYP724B module regulates male sterility by modulating brassinosteroid biosynthesis and interacting with Aorf27 in Gossypium hirsutum

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Journal of Integrative Plant biology 2025年第1期67卷 169-190页

作者： Anhui Guo Hushuai Nie Huijing Li Bin Li Cheng Cheng Kaiyun Jiang Shengwei Zhu Nan Zhao Jinping Hua Laboratory of Cotton Genetics Genomics and Breeding/Joint Laboratory for International Cooperation in Crop Molecular BreedingMinistry of Education/Beijing Key Laboratory of Crop Genetic ImprovementCollege of Agronomy and BiotechnologyChina Agricultural UniversityBeijing 100193China Key Laboratory of Plant molecular Physiology Institute of BotanyChinese Academy of SciencesBeijing 100093China

Cytoplasmic male sterile(CMS)lines play a crucial role in utilization of heterosis in crop ***,the mechanism underlying the manipulation of male sterility in cotton by long non-coding RNA(lncRNA)and brassinosteroids(BRs)remains ***,using an integrative approach combining lncRNA transcriptomic profiles with virus-induced gene silencing experiments,we identify a flower budspecific lncRNA in the maintainer line 2074B,lncRNA67,negatively modulating with male sterility in upland cotton(Gossypium hirsutum).lncRNA67positively regulates cytochrome P274B(GhCYP724B),which acted as an eTM(endogenous target mimic)for *** suppression of GhCYP724B induced symptoms of BR deficiency and male semisterility in upland cotton as well as in tobacco,which resulted from a reduction in the endogenous BR ***724B regulates BRs synthesis by interacting with GhDIM and GhCYP90B,two BRs biosynthesis ***,GhCYP724B suppressed a unique chimeric open reading frame(Aorf27)in 2074A mitochondrial *** expression of Aorf27 in yeast inhibited cellular growth,and over expression of Aorf27 in tobacco showed male ***,the results proved that the miR3367–lncRNA67–GhCYP724B module positively regulates male sterility by modulating BRs *** findings uncovered the function of lncRNA67–GhCYP724B in male sterility,providing a new mechanism for understanding male sterility in upland cotton.

关键词： brassinosteroids GhCYP724B lncRNA67 male sterility mitochondrial Aorf27 upland cotton(G.hirsutum)

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Response surface optimization of preparation parameters and evaluation of the antioxidant and antihypertensive activities of Spirulina protein hydrolysates

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Journal of Oceanology and Limnology 2025年第1期43卷 196-209页

作者： Qishan SUO Zhenzhen DENG Yang YUE Jing WANG Ning WU Lihua GENG Quanbin ZHANG CAS and Shandong Province Key Laboratory of Experimental Marine biology Center for Ocean Mega-ScienceInstitute of OceanologyChinese Academy of SciencesQingdao 266071China Laboratory for Marine biology and Biotechnology Qingdao Marine Science and Technology CenterQingdao 266237China University of Chinese Academy of Sciences Beijing 101408China

Safety,high protein content,and the numerous health benefits make Spirulina an outstanding source of bioactive *** from Spirulina,which exhibit antioxidant,anti-inflammatory,and antihypertensive effects,may assist in the management of cardiovascular diseases(CVDs).Here,we present the optimization of enzyme-digested hydrolysates derived from Spirulina *** using response surface methodology(RSM).We also evaluated the biological activity of Spirulina protein hydrolysates(SPHs)in contributing to the amelioration of hypertension and associated cardiovascular *** findings suggest that Spirulina protein extracts contain a complex proteinaceous composition with phycocyanin being the dominant protein,as evidenced by both SDS-PAGE and LC-MS/MS *** protease,protease K,andα-chymotrypsin exhibited a substantial hydrolytic effect on Spirulina protein,taking into account their degree of hydrolysis(DH),peptide yield,and molecular weight ***-factor experiments identified pH,temperature,and enzyme/substrate ratio as the key factors influencing ***,optimal hydrolysis conditions for the proteases were determined via RSM,leading to a considerable enhancement of the actual *** showed that SPHs have strong antioxidant activity against various free radicals,with a higher ability to scavenge hydroxyl ***,SPHs inhibited macrophage nitric oxide secretion and significantly inhibited angiotensin I-converting enzyme in vitro at 400μg/*** is worth noting that SPHs prepared with protease K exhibited a potent anti-hypertensive effect in *** findings indicate the potential usefulness of including dietary SPHs in preventing hypertension and associated *** research could be valuable in guiding the development of health-promoting foods within the Spirulina industry.

关键词： antioxidant activity antihypertensive effect angiotensin converting enzyme inhibition response surface methodology Spirulina

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NECAB family of neuronal calcium-binding proteins in health and disease

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Neural Regeneration Research 2025年第5期20卷 1236-1243页

作者： Diones Bueno Michael K.E.Schafer Sudena Wang Michael J.Schmeisser Axel Methner institute for molecular Medicine University Medical Center of the Johannes Gutenberg-UniversityMainzGermany Department of Anesthesiology University Medical Center of the Johannes Gutenberg-UniversityMainzGermany institute of Anatomy University Medical Center of the Johannes Gutenberg-UniversityMainzGermany

The N-terminal EF-hand calcium-binding proteins 1–3(NECAB1–3) constitute a family of predominantly neuronal proteins characterized by the presence of at least one EF-hand calcium-binding domain and a functionally less well characterized C-terminal antibiotic biosynthesis monooxygenase domain. All three family members were initially discovered due to their interactions with other proteins. NECAB1 associates with synaptotagmin-1, a critical neuronal protein involved in membrane trafficking and synaptic vesicle exocytosis. NECAB2 interacts with predominantly striatal G-protein-coupled receptors, while NECAB3 partners with amyloid-β A4 precursor protein-binding family A members 2 and 3, key regulators of amyloid-β production. This demonstrates the capacity of the family for interactions with various classes of proteins. NECAB proteins exhibit distinct subcellular localizations: NECAB1 is found in the nucleus and cytosol, NECAB2 resides in endosomes and the plasma membrane, and NECAB3 is present in the endoplasmic reticulum and Golgi apparatus. The antibiotic biosynthesis monooxygenase domain, an evolutionarily ancient component, is akin to atypical heme oxygenases in prokaryotes but is not wellcharacterized in vertebrates. Prokaryotic antibiotic biosynthesis monooxygenase domains typically form dimers, suggesting that calcium-mediated conformational changes in NECAB proteins may induce antibiotic biosynthesis monooxygenase domain dimerization, potentially activating some enzymatic properties. However, the substrate for this enzymatic activity remains uncertain. Alternatively, calcium-mediated conformational changes might influence protein interactions or the subcellular localization of NECAB proteins by controlling the availability of protein–protein interaction domains situated between the EF hands and the antibiotic biosynthesis monooxygenase domain. This review summarizes what is known about genomic organization, tissue expression, intracellular localization, interac

关键词： calcium EF hand mitochondria nervous system signal transduction

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Single-cell and spatial omics:exploring hypothalamic heterogeneity

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Neural Regeneration Research 2025年第6期20卷 1525-1540页

作者： Muhammad Junaid Eun Jeong Lee Su Bin Lim Department of Biochemistry&molecular biology Ajou University School of MedicineSuwonSouth Korea Department of Biomedical Sciences Graduate School of Ajou UniversitySuwonSouth Korea Department of Brain Science Ajou University School of MedicineSuwonSouth Korea

Elucidating the complex dynamic cellular organization in the hypothalamus is critical for understanding its role in coordinating fundamental body functions. Over the past decade, single-cell and spatial omics technologies have significantly evolved, overcoming initial technical challenges in capturing and analyzing individual cells. These high-throughput omics technologies now offer a remarkable opportunity to comprehend the complex spatiotemporal patterns of transcriptional diversity and cell-type characteristics across the entire hypothalamus. Current single-cell and single-nucleus RNA sequencing methods comprehensively quantify gene expression by exploring distinct phenotypes across various subregions of the hypothalamus. However, single-cell/single-nucleus RNA sequencing requires isolating the cell/nuclei from the tissue, potentially resulting in the loss of spatial information concerning neuronal networks. Spatial transcriptomics methods, by bypassing the cell dissociation, can elucidate the intricate spatial organization of neural networks through their imaging and sequencing technologies. In this review, we highlight the applicative value of single-cell and spatial transcriptomics in exploring the complex molecular-genetic diversity of hypothalamic cell types, driven by recent high-throughput achievements.

关键词： cellular diversity hypothalamus multi-omics single-cell transcriptomics spatial transcriptomics

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Host cytoskeleton and membrane network remodeling in the regulation of viral replication

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Biophysics Reports 2025年第01期11卷 34-45页

作者： Xuedi Gao Xinming Chen Letian Yu Shuangshuang Zhao Yaming Jiu Unit of Cell biology and Imaging Study of Pathogen Host Interaction The Center for Microbes Development and Health Key Laboratory of Molecular Virology and Immunology Shanghai Institute of Immunity and InfectionChinese Academy of Sciences University of Chinese Academy of Sciences Key Laboratory of Virology and Biosafety Chinese Academy of Sciences

Viral epidemics pose major threats to global health and economies. A hallmark of viral infection is the reshaping of host cell membranes and cytoskeletons to form organelle-like structures, known as viral factories, which support viral genome replication. Viral infection in many cases induces the cytoskeletal network to form cage-like structures around viral factories, including actin rings, microtubule cages,and intermediate filament cages. Viruses hijack various organelles to create these replication factories,such as viroplasms, spherules, double-membrane vesicles, tubes, and nuclear viral factories. This review specifically examines the roles of cytoskeletal elements and the endomembrane system in material transport, structural support, and biochemical regulation during viral factory formation. Furthermore, we discuss the broader implications of these interactions for viral replication and highlight potential future research directions.

关键词： Viral replication factory Cytoskeleton Actin filaments Microtubules Intermediate filaments Rearrangement of cellular membranes

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Accurate measurements of the bond dissociation energies of^(14)N_(2),^(14N)^(15)N and^(15)N_(2)

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Fundamental Research 2025年第1期5卷 151-157页

作者： Liya Lu Pan Jiang Hong Gao Beijing National Laboratory for molecular Sciences(BNLMS) Institute of ChemistryChinese Academy of SciencesBeijing 100190China University of Chinese Academy of Sciences Beijing 100049China

Accurate determinations of bond dissociation energies(BDEs)and the corresponding enthalpies of formation derived from them are of fundamental importance,while on the other hand also very challenging in *** this study,we demonstrate a direct experimental scheme for measuring the BDEs of^(14)N_(2),^(14N)^(15)N and^(15)N_(2)to an accuracy of a few *** high-resolution quantum-state-selected velocity-mapped ion images for several rotational levels with accurately known spectroscopic term energies slightly above the dissociation limit N(^(2)D_(5/2,3/2))+N(^(2)D_(5/2,3/2))were obtained for each of the dinitrogen isotopologue molecules.A linear fit between squares of the radii of the quantum-state-selected images and the spectroscopic term energies gives out an accurate measurement of the threshold D0 for dissociating into the channel N(^(2)D_(5/2,3/2))+N(^(2)D_(5/2,3/2)).The BDEs of^(4)N_(2),^(14N)^(15)N and^(15)N_(2)into the lowest channel N(4S)+N(4S)are independently determined to be 78,688±3,78,705±4 and 78,728±4 cm^(−1),*** independently determined BDEs are found to give a consistent value of De after considering the zero-point energies for each of the isotopologues,implying the reliability of the present *** with several previous measurements and theoretical calculations are *** experimental scheme demonstrated in this study should be generally applicable for precisely determining the BDEs of many other diatomic molecules.

关键词： N_(2) Bond dissociation energy Photodissociation Vacuum ultraviolet Velocity-mapped imaging

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Efficient photocatalytic reduction of CO_(2)to formate by a molecular noble metal-free system

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Science China Chemistry 2025年第1期68卷 152-156页

作者： Lihua Zhang Lingjing Chen Huatian Shi Yue Wei Gui Chen Tai-Chu Lau School of Environment and Civil Engineering Research Center for Eco-environmental EngineeringDongguan University of TechnologyDongguan 523808China Department of Chemistry and institute of molecular Functional Materials City University of Hong KongHong Kong 999077China

Reducing CO_(2)to carbon-neutral solar fuels can not only alleviate the energy demand but also mitigate the greenhouse *** present,developing an efficient non-noble metal photo/electrocatalytic system for converting CO_(2)to a specific product beyond CO is still a big ***,we report a new cobalt complex bearing 2,2′-bi-1,10-phenanthroline ligand that can photocatalytically reduce CO_(2)to formate(HCOO^(-)).Turnover number(TON)for HCOO^(-)up to 677 with 99%selectivity can be achieved using organic dyes purpurin as photosensitizer and 1,3-dimethyl-2-phenyl-2,3-dihydro-1H-benzo[d]imidazole(BIH)as sacrificial reductant in a CO_(2)-saturated NMP/TEA(v/v,3:1)solution under visible light *** potential electrolysis at-1.41 V(***/Ag Cl)in the presence of 12 mM Et_(3)NHBF_(4)also produced HCOO^(-)with Faradaic efficiency of 39%.Spectroscopic and electrochemical studies suggest that a[CoI-H]species is the key intermediate for CO_(2)reduction.

关键词： photocatalysis noble metal-free CO_(2)reduction formate cobalt hydride

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