文献库，生知库 | 链接生命科学的每一步

Nicoli, Elena-Raluca; Huebecker, Mylene; Han, Sangwoo T; Garcia, Karolyn; Munasinghe, Jeeva; Lizak, Martin; Latour, Yvonne; Yoon, Robin; Glase, Brianna; Tyrlik, Michal; Peiravi, Morteza; Springer, Danielle; Baker, Eva H; Priestman, David; Sidhu, Rohini; Kell, Pamela; Jiang, Xuntian; Kolstad, Josephine; Kuhn, Anna Luisa; Shazeeb, Mohammed Salman; Acosta, Maria T; Proia, Richard L; Platt, Frances M; Tifft, Cynthia J

发表日期：2023

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Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity

在啮齿动物中上调β-己糖胺酶活性可阻止α-突触核蛋白与脂质的结合，并保护多巴胺能神经元免受α-突触核蛋白介导的神经毒性损害。

期刊:Acta Neuropathologica Communications

影响因子:6.2

doi:10.1186/s40478-020-01004-6

Oeystein R Brekk ,Joanna A Korecka ,Cecile C Crapart ,Mylene Huebecker ,Zachary K MacBain ,Sara Ann Rosenthal ,Miguel Sena-Esteves ,David A Priestman ,Frances M Platt ,Ole Isacson ,Penelope J Hallett

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

遗传背景改变了 C1 型尼曼匹克病小鼠模型的表型严重程度和寿命

期刊:Disease Models & Mechanisms

影响因子:4

doi:10.1242/dmm.042614

Jorge L Rodriguez-Gil, Dawn E Watkins-Chow, Laura L Baxter, Gene Elliot, Ursula L Harper, Stephen M Wincovitch, Julia C Wedel, Arturo A Incao, Mylene Huebecker, Frederick J Boehm, William S Garver, Forbes D Porter, Karl W Broman, Frances M Platt, William J Pavan

Fetal gene therapy for neurodegenerative disease of infants

婴儿神经退行性疾病的胎儿基因治疗

期刊:Nature Medicine

影响因子:58.7

doi:10.1038/s41591-018-0106-7

Giulia Massaro, Citra N Z Mattar, Andrew M S Wong, Ernestas Sirka, Suzanne M K Buckley, Bronwen R Herbert, Stefan Karlsson, Dany P Perocheau, Derek Burke, Simon Heales, Angela Richard-Londt, Sebastian Brandner, Mylene Huebecker, David A Priestman, Frances M Platt, Kevin Mills, Arijit Biswas, Jonatha

神经

发表日期：2018

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Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain

小鼠大脑正常衰老过程中糖鞘脂水平和葡萄糖脑苷脂酶活性发生改变

期刊:Neurobiology of Aging

影响因子:3.7

doi:10.1016/j.neurobiolaging.2018.02.028

Penelope J Hallett, Mylene Huebecker, Oeystein R Brekk, Elizabeth B Moloney, Emily M Rocha, David A Priestman, Frances M Platt, Ole Isacson

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease

AAV9 脑室内基因治疗可改善尼曼匹克 C1 型疾病小鼠模型的寿命、运动功能和病理

期刊:Human Molecular Genetics

影响因子:3.1

doi:10.1093/hmg/ddy212

Michael P Hughes, Dave A Smith, Lauren Morris, Claire Fletcher, Alexandria Colaco, Mylene Huebecker, Julie Tordo, Nuria Palomar, Giulia Massaro, Els Henckaerts, Simon N Waddington, Frances M Platt, Ahad A Rahim

Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis

神经节苷脂代谢酶表达改变导致 GM3 神经节苷脂在幼年神经元蜡样脂褐素沉积症小鼠模型的小脑细胞中积累

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms19020625

Aleksandra Somogyi, Anton Petcherski, Benedikt Beckert, Mylene Huebecker, David A Priestman, Antje Banning, Susan L Cotman, Frances M Platt, Mika O Ruonala, Ritva Tikkanen

Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis

抑制 β-葡萄糖脑苷脂酶活性可保持肌萎缩侧索硬化症小鼠模型中的运动单位完整性

期刊:Scientific Reports

影响因子:3.8

doi:10.1038/s41598-017-05313-0

Alexandre Henriques, Mylene Huebecker, Hélène Blasco, Céline Keime, Christian R Andres, Philippe Corcia, David A Priestman, Frances M Platt, Michael Spedding, Jean-Philippe Loeffler0

Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C

C型尼曼-匹克病小鼠模型中肝脏对胆汁酸治疗的不同反应

期刊:Wellcome Open Research

影响因子:

doi:10.12688/wellcomeopenres.12431.2

Nicoli, Elena-Raluca; Huebecker, Mylene; Smith, David; Morris, Lauren; Platt, Frances M

发表日期：2017

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Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase

肌萎缩侧索硬化症和失神经支配改变鞘脂并上调葡萄糖神经酰胺合酶

期刊:Human Molecular Genetics

影响因子:3.1

doi:10.1093/hmg/ddv439

Alexandre Henriques, Vincent Croixmarie, David A Priestman, Angela Rosenbohm, Sylvie Dirrig-Grosch, Eleonora D'Ambra, Mylene Huebecker, Ghulam Hussain, Claire Boursier-Neyret, Andoni Echaniz-Laguna, Albert C Ludolph, Frances M Platt, Bernard Walther, Michael Spedding, Jean-Philippe Loeffler, Jose-Lu

Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients

Glb1基因敲除小鼠模型与II型GM1神经节苷脂病患者具有相似的自然病程

Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity

在啮齿动物中上调β-己糖胺酶活性可阻止α-突触核蛋白与脂质的结合，并保护多巴胺能神经元免受α-突触核蛋白介导的神经毒性损害。

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

遗传背景改变了 C1 型尼曼匹克病小鼠模型的表型严重程度和寿命

Fetal gene therapy for neurodegenerative disease of infants

婴儿神经退行性疾病的胎儿基因治疗

Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain

小鼠大脑正常衰老过程中糖鞘脂水平和葡萄糖脑苷脂酶活性发生改变

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease

AAV9 脑室内基因治疗可改善尼曼匹克 C1 型疾病小鼠模型的寿命、运动功能和病理

Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis

神经节苷脂代谢酶表达改变导致 GM3 神经节苷脂在幼年神经元蜡样脂褐素沉积症小鼠模型的小脑细胞中积累

Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis

抑制 β-葡萄糖脑苷脂酶活性可保持肌萎缩侧索硬化症小鼠模型中的运动单位完整性

Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C

C型尼曼-匹克病小鼠模型中肝脏对胆汁酸治疗的不同反应

Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase

肌萎缩侧索硬化症和失神经支配改变鞘脂并上调葡萄糖神经酰胺合酶