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

Generation and characterization of human iPSC-derived NPC1 (I1061T/I10161T) i(3)Neurons as a model for NPC1 disease.

生成和表征人类 iPSC 衍生的 NPC1 (I1061T/I10161T) i(3)神经元作为 NPC1 疾病的模型。

Salhotra Shikha, Cawley Niamh X, White Christian, Kang Insung, Prabhu Anika, Davidson Cristin D, Wassif Christopher A, Porter Forbes D

Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome

史密斯-莱姆利-奥皮茨综合征患者的脑脊液蛋白改变

Li, Wenping; Pergande, Melissa R; Serna-Perez, Fidel; Patel, Vinayak; Crutchfield, Christopher A; Searle, Brian C; Picache, Jaqueline A; Farhat, Nicole M; Wassif, Christopher A; Backlund, Peter S; Bianconi, Simona; Pacak, Karel; Freel, Bethany A; Francis, Kevin R; Porter, Forbes D; Cologna, Stephanie M

Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model

在史密斯-莱姆利-奥皮茨综合征模型中,甾醇生物合成调节TLR信号传导和先天免疫反应。

Gabor, Kristin; Mesev, Emily V; Madenspacher, Jennifer; Meacham, Julie; Rai, Prashant; Moon, Sookjin; Wassif, Christopher A; Shaikh, Saame Raza; Tucker, C J; Karmaus, Peer; Bianconi, Simona; Porter, Forbes D; Fessler, Michael B

Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz综合征患者脑脊液胶质纤维酸性蛋白水平升高

Luke, Rachel A; Cawley, Niamh X; Rahhal, Samar; Selvaraman, Aishwarya; Thurm, Audrey; Wassif, Christopher A; Porter, Forbes D

Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions.

从患有 CLN3 相关疾病的个体的成纤维细胞中诱导出六种多能干细胞系

Dwojak Ewelina, O'Mard Danielle, Zou Jizhong, Wassif Christopher A, Burkett Sandra, Eckhaus Michael, Rueda Faucz Fabio, Padilla Cameron, Villasmil Rafael, Zheng Wei, Dang Do An N

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

肌酸转运体缺乏症患者脑脊液中β-淀粉样蛋白肽和总tau蛋白水平升高

Rahhal, Samar; Farmer, Cristan; Thurm, Audrey; Wassif, Christopher A; Cawley, Niamh X; Perreault, John; Dang Do, An; Bianconi, Simona; Hannah-Shmouni, Fady; Guthrie, Whitney; Cubit, Laura S; Miller, Judith S; Sutton, V Reid; Koeberl, Dwight; Porter, Forbes D

Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency"

关于“肌酸转运蛋白缺乏症患者脑脊液中淀粉样β肽和总tau蛋白升高”一文的更正

Rahhal, Samar; Farmer, Cristan; Thurm, Audrey; Wassif, Christopher A; Cawley, Niamh X; Perreault, John; Dang Do, An; Bianconi, Simona; Hannah-Shmouni, Fady; Guthrie, Whitney; Cubit, Laura S; Miller, Judith S; Sutton, V Reid; Koeberl, Dwight; Porter, Forbes D

Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology.

复杂的 N-连接糖基化:尼曼-匹克病 C1 型病理的潜在修饰因子

Cawley Niamh X, Lyons Anna T, Abebe Daniel, Luke Rachel, Yerger Julia, Telese Rebecca, Wassif Christopher A, Bailey-Wilson Joan E, Porter Forbes D

X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model

X连锁肌酸转运蛋白缺乏症会导致人类和疾病模型中QTc间期延长和猝死风险增加。

Levin, Mark D; Bianconi, Simona; Smith, Andrew; Cawley, Niamh X; Do, An Dang; Hammond, Dylan; Grafstein, Julia F; Thurm, Audrey; Miller, Judith; Perreault, John; Noguchi, Audrey; Springer, Danielle; Kozel, Beth A; Spurney, Christopher F; Wassif, Christopher A; Yu, Zu-Xi; Schulze, Andreas; Porter, Forbes D; Hannah-Shmouni, Fady

Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

甾醇和脂质分析可识别自闭症患者中与适应性功能缺陷相关的低脂血症和载脂蛋白紊乱。

Tierney, Elaine; Remaley, Alan T; Thurm, Audrey; Jager, Leah R; Wassif, Christopher A; Kratz, Lisa E; Bailey-Wilson, Joan E; Bukelis, Irena; Sarphare, Geeta; Jung, Eun Sol; Brand, Boudewien; Noah, Kelly K; Porter, Forbes D