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

A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis

用于监测 GM1 神经节苷脂沉积症基因治疗药效学反应的五糖

Pamela Kell, Rohini Sidhu, Mingxing Qian, Sonali Mishra, Elena-Raluca Nicoli, Precilla D'Souza, Cynthia J Tifft, Amanda L Gross, Heather L Gray-Edwards, Douglas R Martin, Miguel Sena-Esteves, Dennis J Dietzen, Manmilan Singh, Jingqin Luo, Jean E Schaffer, Daniel S Ory, Xuntian Jiang

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis

唾液酸酶 NEU3 对 GM1 神经节苷脂的作用对 GM1 神经节苷脂沉积症具有神经保护作用

Maria L Allende, Y Terry Lee, Colleen Byrnes, Cuiling Li, Galina Tuymetova, Jenna Y Bakir, Elena-Raluca Nicoli, Virginia K James, Jennifer S Brodbelt, Cynthia J Tifft, Richard L Proia

Gene expression changes in Tay-Sachs disease begin early in fetal brain development

泰-萨克斯病的基因表达变化始于胎儿大脑发育早期

Sangwoo T Han, Ashley Hirt, Elena-Raluca Nicoli, Mari Kono, Camilo Toro, Richard L Proia, Cynthia J Tifft

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

cDNA 测序提高了 Chediak-Higashi 综合征的分子诊断效率

Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Carla Ciccone, Meral Gunay-Aygun, William A Gahl, Wendy J Introne, May Christine V Malicdan

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

尼曼匹克病 C1 型中的铁稳态缺陷和血液学异常

Oscar C W Chen #, Stephan Siebel #, Alexandria Colaco #, Elena-Raluca Nicoli #, Nick Platt #, Dawn Shepherd, Stephanie Newman, Andrew E Armitage, Nicole Y Farhat, George Seligmann, Claire Smith, David A Smith, Alaa Abdul-Sada, Mylvaganam Jeyakumar, Hal Drakesmith, Forbes D Porter, Frances M Platt

IDH1 mutations induce organelle defects via dysregulated phospholipids

IDH1突变通过磷脂失调诱发细胞器缺陷

Adrian Lita # ,Artem Pliss # ,Andrey Kuzmin ,Tomohiro Yamasaki ,Lumin Zhang ,Tyrone Dowdy ,Christina Burks ,Natalia de Val ,Orieta Celiku ,Victor Ruiz-Rodado ,Elena-Raluca Nicoli ,Michael Kruhlak ,Thorkell Andresson ,Sudipto Das ,Chunzhang Yang ,Rebecca Schmitt ,Christel Herold-Mende ,Mark R Gilbert ,Paras N Prasad ,Mioara Larion

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

由于新生 CLCN7 变体对溶酶体酸化的影响而导致的溶酶体储存和白化病

Elena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, Alissa Becerril, Austin Larson, Wadih M Zein, Peter R Baker 2nd, John Douglas Burke, Heidi Dorward, Mariska Davids, Yan Huang, David R Adams, Patricia M Zerfas, Dong Chen, Thomas C Markello, Camilo Toro, Tim Wood, Gene Elliott, Mylinh Vu; Undiagnos

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

赫尔曼斯基-普德拉克综合征 5 型患者的细胞和分子缺陷

Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, Kevin J O'Brien, Elena-Raluca Nicoli, Brian P Brooks, Laryssa Huryn, Steven A Titus, David R Adams, Dong Chen, William A Gahl, Bernadette R Gochuico, May Christine V Malicdan