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Evolving therapies: From current treatments to emerging innovations in lysosomal disorders 不断发展的疗法：从目前的治疗方法到溶酶体疾病的新兴创新
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109914
Irene Chang
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引用次数: 0
Moderately high-fat diet exacerbates some but not all phenotypes in a murine LCHADD model 在小鼠LCHADD模型中，适度高脂肪饮食加剧了一些但不是所有的表型
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109960
Ayah Asal, Gabriela Elizondo, Garen Gaston, Lea Chung, Lauren Ahmann, Melanie Gillingham
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引用次数: 0
Development of an algorithm to assess the risk–benefit ratio of the use of pegvaliase during pregnancy 开发一种算法来评估妊娠期间使用pegvaliase的风险-收益比
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.110001
Cary Harding , Takashi Hamazaki , Alvaro Hermida , Suzanne Hollander , Tetsuya Ito , Ania C. Muntau , Júlio César Rocha , Valentina Rovelli , Stephanie Sacharow , Janet A. Thomas , Erika Vucko , Francjan J. van Spronsen , Abigail Hunt , Kristin Lindstrom , Melissa Lah
{"title":"Development of an algorithm to assess the risk–benefit ratio of the use of pegvaliase during pregnancy","authors":"Cary Harding , Takashi Hamazaki , Alvaro Hermida , Suzanne Hollander , Tetsuya Ito , Ania C. Muntau , Júlio César Rocha , Valentina Rovelli , Stephanie Sacharow , Janet A. Thomas , Erika Vucko , Francjan J. van Spronsen , Abigail Hunt , Kristin Lindstrom , Melissa Lah","doi":"10.1016/j.ymgme.2026.110001","DOIUrl":"10.1016/j.ymgme.2026.110001","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 110001"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Functional characterization of ALDH7A1 variants in late-onset pyridoxine-dependent epilepsy 迟发型吡哆醇依赖性癫痫ALDH7A1变异的功能特征
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109993
Nicole García Tubéns , Kristine Pauly , Michael F. Wempe , Michael Woontner , Curtis Coughlin
{"title":"Functional characterization of ALDH7A1 variants in late-onset pyridoxine-dependent epilepsy","authors":"Nicole García Tubéns , Kristine Pauly , Michael F. Wempe , Michael Woontner , Curtis Coughlin","doi":"10.1016/j.ymgme.2026.109993","DOIUrl":"10.1016/j.ymgme.2026.109993","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109993"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical factors associated with neurodevelopmental testing in children with mitochondrial disease 与线粒体疾病儿童神经发育测试相关的临床因素
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109996
Eliza Gordon-Lipkin , Maegan Wood , Madeleine Hesselgesser , Cristan Farmer , Shannon Kruk , Peter McGuire , Audrey Thurm
{"title":"Clinical factors associated with neurodevelopmental testing in children with mitochondrial disease","authors":"Eliza Gordon-Lipkin , Maegan Wood , Madeleine Hesselgesser , Cristan Farmer , Shannon Kruk , Peter McGuire , Audrey Thurm","doi":"10.1016/j.ymgme.2026.109996","DOIUrl":"10.1016/j.ymgme.2026.109996","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109996"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Interim results of phase 2 trial of ARCT-810 MRNA therapy in patients with ornithine transcarbamylase deficiency ARCT-810 MRNA治疗鸟氨酸转氨基甲酰基酶缺乏症患者的2期试验中期结果
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109998
Ben Greener , Rachael Batabyal , Juergen Froehlich , Constance Crowley , David Geller , Laura Reck Cechinel , Laura Allan , Kerri Gallagher , Pad Chivukula , Tamanna Roshan Lal , Martin Poms , Johannes Häberle , Marshall Summar
{"title":"Interim results of phase 2 trial of ARCT-810 MRNA therapy in patients with ornithine transcarbamylase deficiency","authors":"Ben Greener , Rachael Batabyal , Juergen Froehlich , Constance Crowley , David Geller , Laura Reck Cechinel , Laura Allan , Kerri Gallagher , Pad Chivukula , Tamanna Roshan Lal , Martin Poms , Johannes Häberle , Marshall Summar","doi":"10.1016/j.ymgme.2026.109998","DOIUrl":"10.1016/j.ymgme.2026.109998","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109998"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Navigating challenges in newborn screening for lysosomal diseases 新生儿溶酶体疾病筛查面临的挑战
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109922
Christina Grant, KeriAnn Kuperman
{"title":"Navigating challenges in newborn screening for lysosomal diseases","authors":"Christina Grant, KeriAnn Kuperman","doi":"10.1016/j.ymgme.2026.109922","DOIUrl":"10.1016/j.ymgme.2026.109922","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109922"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mitochondrial-targeted reactive oxygen species scavenger JP4–039 mitigates glucose metabolism alterations in the brain of glutaryl-coa dehydrogenase-deficient mice 线粒体靶向活性氧清除剂JP4-039减轻了戊二酰辅酶脱氢酶缺陷小鼠大脑中葡萄糖代谢的改变
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109966
Manuela Bianchin Marcuzzo , Renata de Brito , Leonardo de Moura Alvorcem , Rafael T. Ribeiro , Carolina Soares , Eduardo Rigon Zimmer , Larissa D. Bobermin , Andre Quincozes-Santos , Adriana K. Vizuete , Carlos-Alberto Gonçalves , Peter Wipf , Bianca Seminotti , Jerry Vockley , Moacir Wajner , Guilhian Leipnitz
{"title":"Mitochondrial-targeted reactive oxygen species scavenger JP4–039 mitigates glucose metabolism alterations in the brain of glutaryl-coa dehydrogenase-deficient mice","authors":"Manuela Bianchin Marcuzzo , Renata de Brito , Leonardo de Moura Alvorcem , Rafael T. Ribeiro , Carolina Soares , Eduardo Rigon Zimmer , Larissa D. Bobermin , Andre Quincozes-Santos , Adriana K. Vizuete , Carlos-Alberto Gonçalves , Peter Wipf , Bianca Seminotti , Jerry Vockley , Moacir Wajner , Guilhian Leipnitz","doi":"10.1016/j.ymgme.2026.109966","DOIUrl":"10.1016/j.ymgme.2026.109966","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109966"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Conference SIMD Title Page 会议SIMD标题页
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/S1096-7192(26)00411-7
{"title":"Conference SIMD Title Page","authors":"","doi":"10.1016/S1096-7192(26)00411-7","DOIUrl":"10.1016/S1096-7192(26)00411-7","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 110128"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
SIMD 2026 Program Committee SIMD 2026计划委员会
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109899
{"title":"SIMD 2026 Program Committee","authors":"","doi":"10.1016/j.ymgme.2026.109899","DOIUrl":"10.1016/j.ymgme.2026.109899","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109899"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","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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