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Molecular Genetics and Metabolism最新文献

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Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis 从阿加西酶 beta 转为米格司他的患者的临床疗效：法布里注册分析
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107999
Antonio Pisani, Kathryn Wilson, Julie Batista, I. Kantola, A. O. Arduan, J. Politei, Laila Al-Shaar, M. Maski, Ana Crespo, Elvira Ponce, A. Linhart
{"title":"Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis","authors":"Antonio Pisani, Kathryn Wilson, Julie Batista, I. Kantola, A. O. Arduan, J. Politei, Laila Al-Shaar, M. Maski, Ana Crespo, Elvira Ponce, A. Linhart","doi":"10.1016/j.ymgme.2023.107999","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107999","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"13 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139813627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Losartan treatment in mucopolysaccharidosis type I mice: Beneficial effects on aortic structure and pathways insights 洛沙坦治疗I型粘多糖病小鼠：对主动脉结构和通路的有益影响启示
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107855
E. Gonzalez, Isabelle S. Viana, L. N. Pimentel-Vera, Giuseppe Á. Testa, Roberto Giugliani, Ursula Matte, G. Baldo
{"title":"Losartan treatment in mucopolysaccharidosis type I mice: Beneficial effects on aortic structure and pathways insights","authors":"E. Gonzalez, Isabelle S. Viana, L. N. Pimentel-Vera, Giuseppe Á. Testa, Roberto Giugliani, Ursula Matte, G. Baldo","doi":"10.1016/j.ymgme.2023.107855","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107855","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"53 19","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139813894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Severe form of Niemann-Pick disease type B in Iranian population: A review of the spectrum of disease in acid sphingomyelinase deficiency 伊朗人群中的严重尼曼-皮克病 B 型：回顾酸性鞘磷脂酶缺乏症的疾病谱
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.108056
Beena Thomas, Maryam Banikazemi
{"title":"Severe form of Niemann-Pick disease type B in Iranian population: A review of the spectrum of disease in acid sphingomyelinase deficiency","authors":"Beena Thomas, Maryam Banikazemi","doi":"10.1016/j.ymgme.2023.108056","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108056","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"6 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139814618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Measuring the intangible cost of lysosomal disorders: Fabry disease, Gaucher disease type 3, and GM2 gangliosidosis 衡量溶酶体疾病的无形成本：法布里病、戈谢病 3 型和 GM2 神经节苷脂病
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107944
N. Lyn, Sarah Ba, Christina A. Graham, France Sowell, Emily Ruzich, R. Krupnick, Ruth Pulikottil-Jacob
{"title":"Measuring the intangible cost of lysosomal disorders: Fabry disease, Gaucher disease type 3, and GM2 gangliosidosis","authors":"N. Lyn, Sarah Ba, Christina A. Graham, France Sowell, Emily Ruzich, R. Krupnick, Ruth Pulikottil-Jacob","doi":"10.1016/j.ymgme.2023.107944","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107944","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"30 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139816640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bone involvement in Gaucher disease: Can miRNAs determine or predict the severity degree? 戈谢病的骨骼受累：miRNA 能否确定或预测严重程度？
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.108038
I. Gonzalo, L. L. de Frutos, Ralf Köhler, Pilar Giraldo
{"title":"Bone involvement in Gaucher disease: Can miRNAs determine or predict the severity degree?","authors":"I. Gonzalo, L. L. de Frutos, Ralf Köhler, Pilar Giraldo","doi":"10.1016/j.ymgme.2023.108038","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108038","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"124 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139816951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nerve conduction velocity studies in infantile Krabbe disease demonstrate long term continued progression of peripheral demyelinating neuropathy after hematopoietic stem cell transplantation (HSCT) 婴儿克拉伯病的神经传导速度研究表明，造血干细胞移植（HSCT）后周围脱髓鞘神经病长期持续发展
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.108011
Deepa S Rajan, Hoda Abdel-Hamid, Maria L. Beltran-Quintero, Shilpa Haldal, M. Poe, M. Escolar
{"title":"Nerve conduction velocity studies in infantile Krabbe disease demonstrate long term continued progression of peripheral demyelinating neuropathy after hematopoietic stem cell transplantation (HSCT)","authors":"Deepa S Rajan, Hoda Abdel-Hamid, Maria L. Beltran-Quintero, Shilpa Haldal, M. Poe, M. Escolar","doi":"10.1016/j.ymgme.2023.108011","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108011","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"7 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139820191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CTSD integrity in the endoplasmic reticulum is required for CLN6's anti-aggregate activity CLN6的抗聚集活性需要内质网中CTSD的完整性
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.108044
Y. Shiro, Tetsuo Yamazaki
{"title":"CTSD integrity in the endoplasmic reticulum is required for CLN6's anti-aggregate activity","authors":"Y. Shiro, Tetsuo Yamazaki","doi":"10.1016/j.ymgme.2023.108044","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108044","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"139 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139821007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
ETV:SGSH, a brain-penetrant enzyme transport vehicle for SGSH, improves lysosomal and microglial morphology, degeneration and cognitive behavior in MPS IIIA mice ETV:SGSH 是 SGSH 的脑酶运输载体，可改善 MPS IIIA 小鼠的溶酶体和小胶质细胞形态、退化和认知行为
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107954
Shababa T. Masoud, Hoang Nguyen, Claire Discenza, David Joy, Jeffrey Simms, Iris Lo, You Young Chun, Julia Holtzman, Khishigjaw Tsogtbaatar, Amy Wing-Sze Leung, Isabel Becerra, Elliot Thomsen, Audrey Gill, Yashas Rajendra, Alexander Seay, Mohammad Jafarnejad, Anna I. Bakardjiev, M. E. Calvert, Cathal S. Mahon, Robert Thorne, Steven Chessler, Kirk Henne, Pascal Sanchez, A. Arguello
{"title":"ETV:SGSH, a brain-penetrant enzyme transport vehicle for SGSH, improves lysosomal and microglial morphology, degeneration and cognitive behavior in MPS IIIA mice","authors":"Shababa T. Masoud, Hoang Nguyen, Claire Discenza, David Joy, Jeffrey Simms, Iris Lo, You Young Chun, Julia Holtzman, Khishigjaw Tsogtbaatar, Amy Wing-Sze Leung, Isabel Becerra, Elliot Thomsen, Audrey Gill, Yashas Rajendra, Alexander Seay, Mohammad Jafarnejad, Anna I. Bakardjiev, M. E. Calvert, Cathal S. Mahon, Robert Thorne, Steven Chessler, Kirk Henne, Pascal Sanchez, A. Arguello","doi":"10.1016/j.ymgme.2023.107954","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107954","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"25 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139822386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A 3-month gene therapy single-dose IV administration pharmacology and safety study with ST-920 (isaralgagene civaparvovec) for Fabry disease in mice ST-920（isaralgagene civaparvovec）治疗小鼠法布里病的为期 3 个月的单剂量静脉注射基因治疗药理学和安全性研究
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107963
Kathleen Meyer, Florence Lorget, Gregg Prawdzik, Marina Falaleeva, L. Cao, L. Falese, Marshall W. Huston, Khaled Hettini, Yanmei Lu, Annemarie Ledeboer
{"title":"A 3-month gene therapy single-dose IV administration pharmacology and safety study with ST-920 (isaralgagene civaparvovec) for Fabry disease in mice","authors":"Kathleen Meyer, Florence Lorget, Gregg Prawdzik, Marina Falaleeva, L. Cao, L. Falese, Marshall W. Huston, Khaled Hettini, Yanmei Lu, Annemarie Ledeboer","doi":"10.1016/j.ymgme.2023.107963","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107963","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"203 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139823762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efficacy of miglustat treatment in a patient with associated action myoclonus renal failure syndrome 米格鲁司他治疗伴有肌阵挛肾衰综合征患者的疗效
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.108036
Annalisa Sechi, Fabiana Colucci, Andrea Dardis, E. Pavan, Maurizio Scarpa, Valeria Tugnoli
{"title":"Efficacy of miglustat treatment in a patient with associated action myoclonus renal failure syndrome","authors":"Annalisa Sechi, Fabiana Colucci, Andrea Dardis, E. Pavan, Maurizio Scarpa, Valeria Tugnoli","doi":"10.1016/j.ymgme.2023.108036","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108036","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"386 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139826764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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