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

The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37

在脊髓小脑性共济失调37型中,Alu元件中插入ATTTC重复序列会过度激活神经发育增强子。

Loureiro, Joana R; Castro, Ana F; Figueiredo, Ana S; Eufrásio, Ana; Dhingra, Ashutosh; Galhardo, Mafalda; Marcelino, Hugo; Rodrigues, Catarina C; Sampaio, Paula; Azevedo, Maria; Sousa, Mafalda; Dória, Sofia; Rizzu, Patrizia; Heutink, Peter; Bessa, José; Silveira, Isabel

Correction of dysregulated lipid metabolism normalizes gene expression in oligodendrocytes and prolongs lifespan in female poly-GA C9orf72 mice.

纠正脂质代谢紊乱可使少突胶质细胞中的基因表达正常化,并延长雌性 poly-GA C9orf72 小鼠的寿命

Rezaei Ali, Kocsis-Jutka Virág, Gunes Zeynep I, Zeng Qing, Kislinger Georg, Bauernschmitt Franz, Isilgan Huseyin Berkcan, Parisi Laura R, Kaya Tuğberk, Franzenburg Sören, Koppenbrink Jonas, Knogler Julia, Arzberger Thomas, Farny Daniel, Nuscher Brigitte, Katona Eszter, Dhingra Ashutosh, Yang Chao, Gouna Garyfallia, LaClair Katherine D, Janjic Aleksandar, Enard Wolfgang, Zhou Qihui, Hagan Nellwyn, Ofengeim Dimitry, Beltrán Eduardo, Gokce Ozgun, Simons Mikael, Liebscher Sabine, Edbauer Dieter

Chr:17q21.31 locus risk haplotype H1 susceptibility to ferroptosis is mediated by endolysosomal pathway

17号染色体q21.31位点风险单倍型H1对铁死亡的易感性是由内溶酶体途径介导的。

Sadikoglou, Eldem; Domingo-Fernández, Daniel; Savytska, Natalia; Fernandes, Noemia; Rizzu, Patrizia; Illarionova, Anastasia; Strauß, Tabea; Schwarz, Sigrid C; Kodamullil, Alpha; Höglinger, Günter U; Dhingra, Ashutosh; Gasser, Thomas; Heutink, Peter

In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment

体外分化的人类干细胞衍生神经元能够重现神经发育过程中产生的突触同步性

Rosa, Filip; Dhingra, Ashutosh; Uysal, Betül; Mendis, G Dulini C; Loeffler, Heidi; Elsen, Gina; Mueller, Stephan; Schwarz, Niklas; Castillo-Lizardo, Melissa; Cuddy, Claire; Becker, Felicitas; Heutink, Peter; Reid, Christopher A; Petrou, Steven; Lerche, Holger; Maljevic, Snezana

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

DAB1 非编码区插入五核苷酸 ATTTC 重复序列,定位于 SCA37,导致脊髓小脑性共济失调

Seixas Ana I, Loureiro Joana R, Costa Cristina, Ordóñez-Ugalde Andrés, Marcelino Hugo, Oliveira Cláudia L, Loureiro José L, Dhingra Ashutosh, Brandão Eva, Cruz Vitor T, Timóteo Angela, Quintáns Beatriz, Rouleau Guy A, Rizzu Patrizia, Carracedo Ángel, Bessa José, Heutink Peter, Sequeiros Jorge, Sobrido Maria J, Coutinho Paula, Silveira Isabel

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

C9orf72在中枢神经系统和髓系细胞中差异表达,并且在C9orf72、MAPT和GRN突变携带者中持续降低。

Rizzu, Patrizia; Blauwendraat, Cornelis; Heetveld, Sasja; Lynes, Emily M; Castillo-Lizardo, Melissa; Dhingra, Ashutosh; Pyz, Elwira; Hobert, Markus; Synofzik, Matthis; Simón-Sánchez, Javier; Francescatto, Margherita; Heutink, Peter