EMBO Molecular Medicine最新文献_第2页

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome. WDR47的双等位基因变异导致复杂的神经发育综合征。

IF 9 1区医学

EMBO Molecular Medicine Pub Date : 2025-01-01 Epub Date: 2024-11-28 DOI: 10.1038/s44321-024-00178-z

Efil Bayam, Peggy Tilly, Stephan C Collins, José Rivera Alvarez, Meghna Kannan, Lucile Tonneau, Elena Brivio, Bruno Rinaldi, Romain Lecat, Noémie Schwaller, Ludovica Cotellessa, Sateesh Maddirevula, Fabiola Monteiro, Carlos M Guardia, João Paulo Kitajima, Fernando Kok, Mitsuhiro Kato, Ahlam A A Hamed, Mustafa A Salih, Saeed Al Tala, Mais O Hashem, Hiroko Tada, Hirotomo Saitsu, Mariano Stabile, Paolo Giacobini, Sylvie Friant, Zafer Yüksel, Mitsuko Nakashima, Fowzan S Alkuraya, Binnaz Yalcin, Juliette D Godin

{"title":"Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.","authors":"Efil Bayam, Peggy Tilly, Stephan C Collins, José Rivera Alvarez, Meghna Kannan, Lucile Tonneau, Elena Brivio, Bruno Rinaldi, Romain Lecat, Noémie Schwaller, Ludovica Cotellessa, Sateesh Maddirevula, Fabiola Monteiro, Carlos M Guardia, João Paulo Kitajima, Fernando Kok, Mitsuhiro Kato, Ahlam A A Hamed, Mustafa A Salih, Saeed Al Tala, Mais O Hashem, Hiroko Tada, Hirotomo Saitsu, Mariano Stabile, Paolo Giacobini, Sylvie Friant, Zafer Yüksel, Mitsuko Nakashima, Fowzan S Alkuraya, Binnaz Yalcin, Juliette D Godin","doi":"10.1038/s44321-024-00178-z","DOIUrl":"10.1038/s44321-024-00178-z","url":null,"abstract":"Brain development requires the coordinated growth of structures and cues that are essential for forming neural circuits and cognitive functions. The corpus callosum, the largest interhemispheric connection, is formed by the axons of callosal projection neurons through a series of tightly regulated cellular events, including neuronal specification, migration, axon extension and branching. Defects in any of those steps can lead to a range of disorders known as syndromic corpus callosum dysgenesis (CCD). We report five unrelated families carrying bi-allelic variants in WDR47 presenting with CCD together with other neuroanatomical phenotypes such as microcephaly and enlarged ventricles. Using in vitro and in vivo mouse models and complementation assays, we show that WDR47 is required for survival of callosal neurons by contributing to the maintenance of mitochondrial and microtubule homeostasis. We further propose that severity of the CCD phenotype is determined by the degree of the loss of function caused by the human variants. Taken together, we identify WDR47 as a causative gene of a new neurodevelopmental syndrome characterized by corpus callosum abnormalities and other neuroanatomical malformations.","PeriodicalId":11597,"journal":{"name":"EMBO Molecular Medicine","volume":" ","pages":"129-168"},"PeriodicalIF":9.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730659/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142749651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A novel anti-epileptogenesis strategy of temporal lobe epilepsy based on nitric oxide donor. 一种新的基于一氧化氮供体的颞叶癫痫抗癫痫策略。

IF 9 1区医学

EMBO Molecular Medicine Pub Date : 2025-01-01 Epub Date: 2024-12-09 DOI: 10.1038/s44321-024-00168-1

Xian-Hui Zhu, Ya-Ping Zhou, Qiao Zhang, Ming-Yi Zhu, Xiao-Wei Song, Jun Li, Jiang Chen, Yun Shi, Kang-Jian Sun, Yong-Jie Zhang, Jing Zhang, Tian Xia, Bao-Sheng Huang, Fan Meng, Qi-Gang Zhou

{"title":"A novel anti-epileptogenesis strategy of temporal lobe epilepsy based on nitric oxide donor.","authors":"Xian-Hui Zhu, Ya-Ping Zhou, Qiao Zhang, Ming-Yi Zhu, Xiao-Wei Song, Jun Li, Jiang Chen, Yun Shi, Kang-Jian Sun, Yong-Jie Zhang, Jing Zhang, Tian Xia, Bao-Sheng Huang, Fan Meng, Qi-Gang Zhou","doi":"10.1038/s44321-024-00168-1","DOIUrl":"10.1038/s44321-024-00168-1","url":null,"abstract":"The molecular mechanism underlying the role of hippocampal hilar interneuron degeneration in temporal lobe epilepsy (TLE) remains unclear. Especially, very few studies have focused on the role of neuronal nitric oxide synthase (nNOS, encoded by Nos1) containing hilar interneurons in TLE. In the present study, Nos1 conditional knockout mice were constructed, and we found that selective deletion of Nos1 in hilar interneurons rather than dentate granular cells (DGCs) triggered epileptogenesis. The level of nNOS was downregulated in patients and mice with TLE. Nos1 deletion led to excessive epilepsy-like excitatory input circuit formation and hyperexcitation of DGCs. Replenishment of hilar nNOS protein blocked epileptogenic development and memory impairment in pilocarpine-induced TLE mice. Moreover, chronic treatment with DETA/NONOate, a slowly released exogenous nitric oxide (NO) donor, prevented aberrant neural circuits of DGCs and the consequent epileptogenesis without acute antiseizure effects. Therefore, we concluded that NO donor therapy may be a novel anti-epileptogenesis strategy, different from existing antiseizure medications (ASMs), for curing TLE.","PeriodicalId":11597,"journal":{"name":"EMBO Molecular Medicine","volume":" ","pages":"85-111"},"PeriodicalIF":9.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Melanin-like nanoparticles slow cyst growth in ADPKD by dual inhibition of oxidative stress and CREB. 类黑色素纳米粒子通过氧化应激和 CREB 的双重抑制作用减缓 ADPKD 囊肿的生长。

IF 9 1区医学

EMBO Molecular Medicine Pub Date : 2025-01-01 Epub Date: 2024-11-20 DOI: 10.1038/s44321-024-00167-2

Yongzhan Sun, Quan Zou, Huizheng Yu, Xiaoping Yi, Xudan Dou, Yu Yang, Zhiheng Liu, Hong Yang, Junya Jia, Yupeng Chen, Shao-Kai Sun, Lirong Zhang

{"title":"Melanin-like nanoparticles slow cyst growth in ADPKD by dual inhibition of oxidative stress and CREB.","authors":"Yongzhan Sun, Quan Zou, Huizheng Yu, Xiaoping Yi, Xudan Dou, Yu Yang, Zhiheng Liu, Hong Yang, Junya Jia, Yupeng Chen, Shao-Kai Sun, Lirong Zhang","doi":"10.1038/s44321-024-00167-2","DOIUrl":"10.1038/s44321-024-00167-2","url":null,"abstract":"Melanin-like nanoparticles (MNPs) have recently emerged as valuable agents in antioxidant therapy due to their excellent biocompatibility and potent capacity to scavenge various reactive oxygen species (ROS). However, previous studies have mainly focused on acute ROS-related diseases, leaving a knowledge gap regarding their potential in chronic conditions. Furthermore, apart from their well-established antioxidant effects, it remains unclear whether MNPs target other intracellular molecular pathways. In this study, we synthesized ultra-small polyethylene glycol-incorporated Mn2+-chelated MNP (MMPP). We found that MMPP traversed the glomerular filtration barrier and specifically accumulated in renal tubules. Autosomal dominant polycystic kidney disease (ADPKD) is a chronic genetic disorder closely associated with increased oxidative stress and featured by the progressive enlargement of cysts originating from various segments of the renal tubules. Treatment with MMPP markedly attenuated oxidative stress levels, inhibited cyst growth, thereby improving renal function. Interestingly, we found that MMPP effectively inhibits a cyst-promoting gene program downstream of the cAMP-CREB pathway, a crucial signaling pathway implicated in ADPKD progression. Mechanistically, we observed that MMPP directly binds to the bZIP DNA-binding domain of CREB, leading to competitive inhibition of CREB's DNA binding ability and subsequent reduction in CREB target gene expression. In summary, our findings identify an intracellular target of MMPP and demonstrate its potential for treating ADPKD by simultaneously targeting oxidative stress and CREB transcriptional activity.","PeriodicalId":11597,"journal":{"name":"EMBO Molecular Medicine","volume":" ","pages":"169-192"},"PeriodicalIF":9.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730739/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Beneficial microbiome and diet interplay in early-onset colorectal cancer. 有益微生物群与饮食在早期结直肠癌中的相互作用

IF 9 1区医学

EMBO Molecular Medicine Pub Date : 2025-01-01 Epub Date: 2024-12-09 DOI: 10.1038/s44321-024-00177-0

Zhengyuan Zhou, Linda Kleis, Ana Depetris-Chauvin, Stefanie Jaskulski, Victoria Damerell, Karin B Michels, Biljana Gigic, Ute Nöthlings, Gianni Panagiotou

{"title":"Beneficial microbiome and diet interplay in early-onset colorectal cancer.","authors":"Zhengyuan Zhou, Linda Kleis, Ana Depetris-Chauvin, Stefanie Jaskulski, Victoria Damerell, Karin B Michels, Biljana Gigic, Ute Nöthlings, Gianni Panagiotou","doi":"10.1038/s44321-024-00177-0","DOIUrl":"10.1038/s44321-024-00177-0","url":null,"abstract":"Colorectal cancer (CRC) is the third most commonly diagnosed cancer and the second leading cause of cancer-related deaths worldwide. Although the risk of developing CRC increases with age, approximately 10% of newly diagnosed cases occur in individuals under the age of 50. Significant changes in dietary habits in young adults since industrialization create a favorable microenvironment for colorectal carcinogenesis. We aim here to shed light on the complex interplay between diet and gut microbiome in the pathogenesis and prevention of early-onset CRC (EO-CRC). We provide an overview of dietary risk factors associated with EO-CRC and contrast them with the general trends for CRC. We delve into gut bacteria, fungi, and phages with potential benefits against CRC and discuss the underlying molecular mechanisms. Furthermore, based on recent findings from human studies, we offer insights into how dietary modifications could potentially enhance gut microbiome composition to mitigate CRC risk. All together, we outline the current research landscape in this area and propose directions for future investigations that could pave the way for novel preventive and therapeutic strategies.","PeriodicalId":11597,"journal":{"name":"EMBO Molecular Medicine","volume":" ","pages":"9-30"},"PeriodicalIF":9.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730345/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

PDE12 mediated pruning of the poly-A tail of mitochondrial DNA-encoded tRNAs is essential for survival. PDE12 介导的线粒体 DNA 编码的 tRNA 的 poly-A 尾部修剪对生存至关重要。

IF 9 1区医学

EMBO Molecular Medicine Pub Date : 2025-01-01 Epub Date: 2024-11-20 DOI: 10.1038/s44321-024-00171-6

Chenxiao Yu, Marco Tigano, Erin L Seifert

引用次数: 0

The role of PM2.5 exposure in lung cancer: mechanisms, genetic factors, and clinical implications. PM2.5 暴露在肺癌中的作用：机制、遗传因素和临床意义。

IF 9 1区医学

EMBO Molecular Medicine Pub Date : 2025-01-01 Epub Date: 2024-11-22 DOI: 10.1038/s44321-024-00175-2

Chi-Yuan Chen, Kuo-Yen Huang, Chin-Chuan Chen, Ya-Hsuan Chang, Hsin-Jung Li, Tong-Hong Wang, Pan-Chyr Yang

{"title":"The role of PM2.5 exposure in lung cancer: mechanisms, genetic factors, and clinical implications.","authors":"Chi-Yuan Chen, Kuo-Yen Huang, Chin-Chuan Chen, Ya-Hsuan Chang, Hsin-Jung Li, Tong-Hong Wang, Pan-Chyr Yang","doi":"10.1038/s44321-024-00175-2","DOIUrl":"10.1038/s44321-024-00175-2","url":null,"abstract":"Lung cancer is one of the most critical global health threats, as the second most common cancer and leading cause of cancer deaths globally. While smoking is the primary risk factor, an increasing number of cases occur in nonsmokers, with lung cancer in nonsmokers (LCNS) now recognized as the fifth leading cause of cancer mortality worldwide. Recent evidence identifies air pollution, particularly fine particulate matter (PM2.5), as a significant risk factor in LCNS. PM2.5 can increase oxidative stress and inflammation, induce genetic alterations and activation of oncogenes (including the epidermal growth factor receptor, EGFR), and contribute to lung cancer progression. This review summarizes the current understanding of how exposure to PM2.5 induces lung carcinogenesis and accelerates lung cancer development. It underscores the importance of prevention and early detection while calling for targeted therapies to combat the detrimental effects of air pollution. An integrated approach that combines research, public health policy, and clinical practice is essential to reduce the lung cancer burden and improve outcomes for those affected by PM2.5 exposurrre.","PeriodicalId":11597,"journal":{"name":"EMBO Molecular Medicine","volume":" ","pages":"31-40"},"PeriodicalIF":9.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729863/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142692810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease. 致病性 PDE12 变体会损害线粒体 RNA 处理，导致新生儿线粒体疾病。

IF 9 1区医学

EMBO Molecular Medicine Pub Date : 2025-01-01 Epub Date: 2024-11-20 DOI: 10.1038/s44321-024-00172-5

Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk

{"title":"Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.","authors":"Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk","doi":"10.1038/s44321-024-00172-5","DOIUrl":"10.1038/s44321-024-00172-5","url":null,"abstract":"Pathogenic variants in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial function. Within this group, an increasing number of families have been identified, where Mendelian genetic disorders implicate defective mitochondrial RNA biology. The PDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Here, we report that disease-causing PDE12 variants in three unrelated families are associated with mitochondrial respiratory chain deficiencies and wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis. Whole exome sequencing of affected probands revealed novel, segregating bi-allelic missense PDE12 variants affecting conserved residues. Patient-derived primary fibroblasts demonstrate diminished steady-state levels of PDE12 protein, whilst mitochondrial poly(A)-tail RNA sequencing (MPAT-Seq) revealed an accumulation of spuriously polyadenylated mitochondrial RNA, consistent with perturbed function of PDE12 protein. Our data suggest that PDE12 regulates mitochondrial RNA processing and its loss results in neurological and muscular phenotypes.","PeriodicalId":11597,"journal":{"name":"EMBO Molecular Medicine","volume":" ","pages":"193-210"},"PeriodicalIF":9.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Navigating from cellular phenotypic screen to clinical candidate: selective targeting of the NLRP3 inflammasome. 从细胞表型筛选到临床候选：NLRP3炎性小体的选择性靶向。

IF 9 1区医学

EMBO Molecular Medicine Pub Date : 2025-01-01 Epub Date: 2024-12-09 DOI: 10.1038/s44321-024-00181-4

Rosalie Matico, Karolien Grauwen, Dhruv Chauhan, Xiaodi Yu, Irini Abdiaj, Suraj Adhikary, Ine Adriaensen, Garcia Molina Aranzazu, Jesus Alcázar, Michela Bassi, Ellen Brisse, Santiago Cañellas, Shubhra Chaudhuri, Francisca Delgado, Alejandro Diéguez-Vázquez, Marc Du Jardin, Victoria Eastham, Michael Finley, Tom Jacobs, Ken Keustermans, Robert Kuhn, Josep Llaveria, Jos Leenaerts, Maria Lourdes Linares, Maria Luz Martín, Rosa Martín-Pérez, Carlos Martínez, Robyn Miller, Frances M Muñoz, Michael E Muratore, Amber Nooyens, Laura Perez-Benito, Mathieu Perrier, Beth Pietrak, Jef Serré, Sujata Sharma, Marijke Somers, Javier Suarez, Gary Tresadern, Andres A Trabanco, Dries Van den Bulck, Michiel Van Gool, Filip Van Hauwermeiren, Teena Varghese, Juan Antonio Vega, Sameh A Youssef, Matthew J Edwards, Daniel Oehlrich, Nina Van Opdenbosch

{"title":"Navigating from cellular phenotypic screen to clinical candidate: selective targeting of the NLRP3 inflammasome.","authors":"Rosalie Matico, Karolien Grauwen, Dhruv Chauhan, Xiaodi Yu, Irini Abdiaj, Suraj Adhikary, Ine Adriaensen, Garcia Molina Aranzazu, Jesus Alcázar, Michela Bassi, Ellen Brisse, Santiago Cañellas, Shubhra Chaudhuri, Francisca Delgado, Alejandro Diéguez-Vázquez, Marc Du Jardin, Victoria Eastham, Michael Finley, Tom Jacobs, Ken Keustermans, Robert Kuhn, Josep Llaveria, Jos Leenaerts, Maria Lourdes Linares, Maria Luz Martín, Rosa Martín-Pérez, Carlos Martínez, Robyn Miller, Frances M Muñoz, Michael E Muratore, Amber Nooyens, Laura Perez-Benito, Mathieu Perrier, Beth Pietrak, Jef Serré, Sujata Sharma, Marijke Somers, Javier Suarez, Gary Tresadern, Andres A Trabanco, Dries Van den Bulck, Michiel Van Gool, Filip Van Hauwermeiren, Teena Varghese, Juan Antonio Vega, Sameh A Youssef, Matthew J Edwards, Daniel Oehlrich, Nina Van Opdenbosch","doi":"10.1038/s44321-024-00181-4","DOIUrl":"10.1038/s44321-024-00181-4","url":null,"abstract":"The NLRP3 inflammasome plays a pivotal role in host defense and drives inflammation against microbial threats, crystals, and danger-associated molecular patterns (DAMPs). Dysregulation of NLRP3 activity is associated with various human diseases, making it an attractive therapeutic target. Patients with NLRP3 mutations suffer from Cryopyrin-Associated Periodic Syndrome (CAPS) emphasizing the clinical significance of modulating NLRP3. In this study, we present the identification of a novel chemical class exhibiting selective and potent inhibition of the NLRP3 inflammasome. Through a comprehensive structure-activity relationship (SAR) campaign, we optimized the lead molecule, compound A, for in vivo applications. Extensive in vitro and in vivo characterization of compound A confirmed the high selectivity and potency positioning compound A as a promising clinical candidate for diseases associated with aberrant NLRP3 activity. This research contributes to the ongoing efforts in developing targeted therapies for conditions involving NLRP3-mediated inflammation, opening avenues for further preclinical and clinical investigations.","PeriodicalId":11597,"journal":{"name":"EMBO Molecular Medicine","volume":" ","pages":"54-84"},"PeriodicalIF":9.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Targeting to BMP9 to restrain flare-up of fibrodysplasia ossificans progressiva. 靶向BMP9抑制进行性骨化纤维发育不良发作。

IF 9 1区医学

EMBO Molecular Medicine Pub Date : 2025-01-01 Epub Date: 2024-12-03 DOI: 10.1038/s44321-024-00180-5

Qiwen Li, Quan Yuan

引用次数: 0

The inflammasome adaptor protein ASC promotes amyloid deposition in cryopyrin-associated periodic syndromes. 在低温蛋白相关的周期性综合征中，炎性体接头蛋白ASC促进淀粉样蛋白沉积。

IF 9 1区医学

EMBO Molecular Medicine Pub Date : 2025-01-01 Epub Date: 2024-12-05 DOI: 10.1038/s44321-024-00176-1

Cristina Alarcón-Vila, Laura Hurtado-Navarro, Sandra V Mateo, Alejandro Peñín-Franch, Carlos M Martínez, Cristina Molina-López, María C Baños, Ana I Gómez, Javier Gómez-Román, Alberto Baroja-Mazo, Juan I Arostegui, Natalia Palmou-Fontana, Juan J Martínez-García, Pablo Pelegrin

引用次数: 0