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

Peripheral neuron phenotypes of familial dysautonomia are rescued by AAV-mediated gene therapy

腺相关病毒(AAV)介导的基因治疗可挽救家族性自主神经功能障碍的周围神经元表型。

Zeltner, Nadja; Wu, Hsueh-Fu; Saini, Tripti; Art, Jennifer; Delaney, William; Lefcort, Frances

Neuronal and glial cell alterations involved in the retinal degeneration of the familial dysautonomia optic neuropathy.

家族性自主神经功能障碍性视神经病变视网膜变性中涉及的神经元和胶质细胞改变。

Schultz Anastasia, Albertos-Arranz Henar, Sáez Xavier Sánchez, Morgan Jamie, Darland Diane C, Gonzalez-Duarte Alejandra, Kaufmann Horacio, Mendoza-Santiesteban Carlos E, Cuenca Nicolás, Lefcort Frances

ELP1, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis.

ELP1 基因在家族性自主神经功能障碍中发生突变,它是正常肠神经系统发育和维持以及肠道上皮稳态所必需的

Chaverra Marta, Cheney Alexandra M, Scheel Alpha, Miller Alessa, George Lynn, Schultz Anastasia, Henningsen Katelyn, Kominsky Douglas, Walk Heather, Kennedy William R, Kaufmann Horacio, Walk Seth, Copié Valérie, Lefcort Frances

Metabolic Deficits in the Retina of a Familial Dysautonomia Mouse Model

家族性自主神经功能紊乱小鼠模型的视网膜代谢缺陷

Stephanann M Costello, Anastasia Schultz, Donald Smith, Danielle Horan, Martha Chaverra, Brian Tripet, Lynn George, Brian Bothner, Frances Lefcort, Valérie Copié

Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia

肠道微生物群失调导致家族性自主神经功能紊乱导致代谢功能障碍

Alexandra M Cheney #, Stephanann M Costello #, Nicholas V Pinkham #, Annie Waldum, Susan C Broadaway, Maria Cotrina-Vidal, Marc Mergy, Brian Tripet, Douglas J Kominsky, Heather M Grifka-Walk, Horacio Kaufmann, Lucy Norcliffe-Kaufmann, Jesse T Peach, Brian Bothner, Frances Lefcort, Valérie Copié, Set

Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators

使用 AAV 介导的基因治疗和剪接调节剂减少家族性自主神经功能紊乱小鼠模型中的视网膜神经节细胞死亡

Anastasia Schultz, Shun-Yun Cheng, Emily Kirchner, Stephanann Costello, Heini Miettinen, Marta Chaverra, Colin King, Lynn George, Xin Zhao, Jana Narasimhan, Marla Weetall, Susan Slaugenhaupt, Elisabetta Morini, Claudio Punzo, Frances Lefcort

Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia

在家族性自主神经功能紊乱模型中,Elp1 的缺失会破坏三叉神经节的神经发育

Carrie E Leonard, Jolie Quiros, Frances Lefcort, Lisa A Taneyhill

Elp1 is required for development of visceral sensory peripheral and central circuitry

Elp1 是内脏感觉外周和中枢回路发育所必需的

Zariah Tolman, Marta Chaverra, Lynn George, Frances Lefcort

Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia

家族性自主神经功能障碍基因小鼠模型中的骨生物力学特性和组织尺度骨质量

Vahidi, G; Flook, H; Sherk, V; Mergy, M; Lefcort, F; Heveran, C M

Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway

Elp1 的缺失会扰乱组蛋白 H2A.Z 和 Notch 信号通路

BreAnna Cameron, Elin Lehrmann, Tien Chih, Joseph Walters, Richard Buksch, Sara Snyder, Joy Goffena, Frances Lefcort, Kevin G Becker, Lynn George