Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107980
Pooja Nandi, Robert Ellis, Biliana Veleva-Rotse, Jennifer Hiros, Paul Howard
{"title":"Cardiac biomarkers in Fabry disease","authors":"Pooja Nandi, Robert Ellis, Biliana Veleva-Rotse, Jennifer Hiros, Paul Howard","doi":"10.1016/j.ymgme.2023.107980","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107980","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139883795","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}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.108048
R. Starosta, S. Le, Xiaoxia Cui, Robert E. Schmidt, Xuntian Jiang, Mark Sands, Patricia I. Dickson
{"title":"Decrease in psychosine in response to a ceramide galactosyltransferase inhibitor in a novel human cell model of Krabbe disease","authors":"R. Starosta, S. Le, Xiaoxia Cui, Robert E. Schmidt, Xuntian Jiang, Mark Sands, Patricia I. Dickson","doi":"10.1016/j.ymgme.2023.108048","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108048","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"22 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139885697","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}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107838
Dominique P. Germain, Fathiya Al Murshedi, Fatma Al Jasmi, G. Altarescu, Olga Azevedo, Fellype C. Barreto, Fatih Ezgu, Dawn A. Laney, Sergey Moiseev, Kotaro Nochioka, Ouyang Yan, Huseyin Onay, Mary Pavlou, Nicholas Pachter, J. Politei, Rawda Sunbul, Rick Steeds, Wen-Chung Yu, Michael L. West, M. Maski, Irina Maksimova
{"title":"Facilitating intrafamily communication to enable earlier diagnosis of Fabry disease in relatives: Expert opinion","authors":"Dominique P. Germain, Fathiya Al Murshedi, Fatma Al Jasmi, G. Altarescu, Olga Azevedo, Fellype C. Barreto, Fatih Ezgu, Dawn A. Laney, Sergey Moiseev, Kotaro Nochioka, Ouyang Yan, Huseyin Onay, Mary Pavlou, Nicholas Pachter, J. Politei, Rawda Sunbul, Rick Steeds, Wen-Chung Yu, Michael L. West, M. Maski, Irina Maksimova","doi":"10.1016/j.ymgme.2023.107838","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107838","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"32 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139888352","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}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107870
S. Gwak, J. Seo, Yoo Jin Hong, C. Shim, G. Hong
{"title":"Impact of enzyme replacement therapy on cardiac function in patients with Fabry disease cardiomyopathy: A prospective multimodality imaging study using diastolic stress echocardiography and cardiac MRI","authors":"S. Gwak, J. Seo, Yoo Jin Hong, C. Shim, G. Hong","doi":"10.1016/j.ymgme.2023.107870","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107870","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"26 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139888428","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}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107876
Andrew Hedman, Steven B. Ortmeier, Shou-nian Liu, Jennifer Srnak, Yicheng Zhao, Katherine White, Russell Gotshall, Lin Liu, Hung Do
{"title":"Optimized dual promoter AAV gene therapy for lysosomal β-glucocerebrosidase with high M6P content for treatment of neuronopathic Gaucher disease","authors":"Andrew Hedman, Steven B. Ortmeier, Shou-nian Liu, Jennifer Srnak, Yicheng Zhao, Katherine White, Russell Gotshall, Lin Liu, Hung Do","doi":"10.1016/j.ymgme.2023.107876","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107876","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139888630","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}
Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
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