日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

常染色体隐性小脑共济失调:将基因转化为疗法

Fogel, Brent L; Klopstock, Thomas; Lynch, David R; Maltecca, Francesca; Verma, Mayank; Minassian, Berge A; Platt, Frances M; Gonçalves, Débora Farina; Puccio, Hélène; Roos, Andreas; Synofzik, Matthis

Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction.

GM2神经节苷脂沉积症中的质膜重塑导致突触功能障碍

Nicholson Alex S, Priestman David A, Antrobus Robin, Williamson James C, Bush Reuben, McKie Shannon J, Barrow Henry G, Smith Emily, Dobrenis Kostantin, Bright Nicholas A, Platt Frances M, Deane Janet E

Limited therapeutic efficacy of N-acetyl-L-leucine in a mouse model of CLN1 disease

N-乙酰-L-亮氨酸在CLN1疾病小鼠模型中的治疗效果有限

Ziółkowska, Ewa A; Pagán Torres, Nicole A; Chen, Hsintsung; Williams, Letitia L; Eultgen, Elizabeth M; Nowacka, Agnieszka; Dearborn, Joshua T; Nelvagal, Hemanth R; Whiteman, Ineka T; Platt, Frances M; Cooper, Jonathan D

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism

溶酶体游离唾液酸贮积症患者的诱导多能干细胞衍生神经细胞表现出糖鞘脂代谢异常

Sabir, Marya S; Jovanovic, Vukasin M; Ryu, Seungmi; Sen, Chaitali; Ormanoglu, Pinar; Pollard, Laura; Steet, Richard; Gahl, William A; Huizing, Marjan; Tristan, Carlos A; Platt, Frances M; Malicdan, May Christine V

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes

非转移性黑色素瘤糖蛋白B是戈谢病患者炎症的生物标志物:与临床病理亚型的关系

Kilavuz, Sebile; Wallom, Kerri-Lee; Caçote, Ana Catarina Gomes Almeida Augusto; Donald, Aimée; D'Amore, Simona; Page, Kathy; Tan, Chong Yew; Te Vruchte, Danielle; Sturchio, Andrea; Tsitsi, Panagiota; Hertz, Ellen; Andréasson, Mattias; Markaki, Ioanna; Svenningsson, Per; Cox, Timothy M; Platt, Frances M

Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes

更正:糖蛋白非转移性黑色素瘤蛋白B是戈谢病患者炎症的生物标志物:与临床病理亚型的关系

Kilavuz, Sebile; Wallom, Kerri-Lee; Caçote, Ana Catarina Gomes Almeida Augusto; Donald, Aimée; D'Amore, Simona; Page, Kathy; Tan, Chong Yew; Vruchte, Danielle Te; Sturchio, Andrea; Tsitsi, Panagiota; Hertz, Ellen; Andréasson, Mattias; Markaki, Ioanna; Svenningsson, Per; Cox, Timothy M; Platt, Frances M

Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease

Slc17a5杂合子小鼠神经节苷脂未发生显著变化:与家族性自闭症谱系障碍和帕金森病的相关性

Sabir, Marya S; Hossain, Mahin S; Pollard, Laura; Huizing, Marjan; Gahl, William A; Platt, Frances M; Malicdan, May Christine V

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder

对溶酶体游离唾液酸贮积症的小鼠和人类细胞模型中的糖鞘脂变化进行分析

Sabir, Marya S; Dobrenis, Kostantin; Rha, Allisandra K; Pollard, Laura; Leoyklang, Petcharat; Marrero, Mariah; Ciccone, Carla; Hackbarth, Mary E; Huizing, Marjan; Wang, Raymond Y; Gahl, William A; Platt, Frances M; Malicdan, May Christine V

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

探讨白细胞唾液酸测定在溶酶体游离唾液酸贮积症中的应用价值

Sabir, Marya S; Pollard, Laura; Wolfe, Lynne; Adams, David R; Ciccone, Carla; Leoyklang, Petcharat; Platt, Frances M; Huizing, Marjan; Gahl, William A; Malicdan, May Christine V

Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy

单等位基因 p.R37H 脱氢多萜醇二磷酸合成酶变体导致进行性癫痫性脑病的新型小鼠模型出现蛋白质糖基化缺陷、异常脂质谱和中间神经元稀少。

Da Silva, Afitz; Tene Tadoum, Samuel Boris; Muffels, Irena J J; Budhraja, Rohit; Sturiale, Luisa; Messina, Angela; Giladi, Moshe; Taherzadeh, Mahsa; Fazeli, Mehrnaz; Bonneil, Éric; Khan, Shaukat; Te Vruchte, Danielle; Yamanaka, Yojiro; Di Cristo, Graziella; Hamdan, Fadi F; Platt, Frances M; Tomatsu, Shunji; Haitin, Yoni; Kozicz, Tamas; Thibault, Pierre; Garozzo, Domenico; Pandey, Akilesh; Morava, Eva; Rossignol, Elsa; Pshezhetsky, Alexey V