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

Lipidomic profiling of mouse brain and human neuron cultures reveals a role for Mboat7 in mTOR-dependent neuronal migration.

对小鼠脑和人类神经元培养物的脂质组学分析揭示了 Mboat7 在 mTOR 依赖性神经元迁移中的作用。

Tang Isaac, Nisal Ashna, Reed Alex, Ware Timothy B, Johansen Anide, Zaki Maha S, Cravatt Benjamin F, Gleeson Joseph G

Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors

寨卡病毒蛋白酶切割宿主蛋白 Septin-2 介导神经祖细胞有丝分裂缺陷

Hongda Li, Laura Saucedo-Cuevas, Ling Yuan, Danica Ross, Anide Johansen, Daniel Sands, Valentina Stanley, Alicia Guemez-Gamboa, Anne Gregor, Todd Evans, Shuibing Chen, Lei Tan, Henrik Molina, Nicholas Sheets, Sergey A Shiryaev, Alexey V Terskikh, Amy S Gladfelter, Sujan Shresta, Zhiheng Xu, Joseph G

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

编码内质网连接稳定蛋白 Lunapark 的 LNPK 基因突变会导致隐性神经发育综合征。

Breuss, Martin W; Nguyen, An; Song, Qiong; Nguyen, Thai; Stanley, Valentina; James, Kiely N; Musaev, Damir; Chai, Guoliang; Wirth, Sara A; Anzenberg, Paula; George, Renee D; Johansen, Anide; Ali, Shaila; Zia-Ur-Rehman, Muhammad; Sultan, Tipu; Zaki, Maha S; Gleeson, Joseph G

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

TRAPPC6B基因的纯合创始突变与一种神经发育障碍相关,该障碍的特征是小头畸形、癫痫和自闭症特征。

Marin-Valencia, Isaac; Novarino, Gaia; Johansen, Anide; Rosti, Basak; Issa, Mahmoud Y; Musaev, Damir; Bhat, Gifty; Scott, Eric; Silhavy, Jennifer L; Stanley, Valentina; Rosti, Rasim O; Gleeson, Jeremy W; Imam, Farhad B; Zaki, Maha S; Gleeson, Joseph G

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

血脑屏障氨基酸运输受损是导致自闭症谱系障碍的原因

Dora C Tărlungeanu, Elena Deliu, Christoph P Dotter, Majdi Kara, Philipp Christoph Janiesch, Mariafrancesca Scalise, Michele Galluccio, Mateja Tesulov, Emanuela Morelli, Fatma Mujgan Sonmez, Kaya Bilguvar, Ryuichi Ohgaki, Yoshikatsu Kanai, Anide Johansen, Seham Esharif, Tawfeg Ben-Omran, Meral Topcu

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

编码溶血磷脂酰肌醇酰基转移酶 I 的 MBOAT7 基因突变会导致智力障碍,并伴有癫痫和自闭症特征。

Johansen, Anide; Rosti, Rasim O; Musaev, Damir; Sticca, Evan; Harripaul, Ricardo; Zaki, Maha; Çağlayan, Ahmet Okay; Azam, Matloob; Sultan, Tipu; Froukh, Tawfiq; Reis, André; Popp, Bernt; Ahmed, Iltaf; John, Peter; Ayub, Muhammad; Ben-Omran, Tawfeg; Vincent, John B; Gleeson, Joseph G; Abou Jamra, Rami