Clinical characteristics of <i>THAP1</i> mutations carriers.

NIAID Data Ecosystem2026-03-08 收录

THAP1基因突变

肌张力障碍病理

数据链接：

https://figshare.com/articles/dataset/Clinical_characteristics_of_i_THAP1_i_mutations_carriers_/2663707 数据链接链接失效反馈

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资源简介：

Clinical characteristics of THAP1 mutations carriers.

创建时间：

2015-06-18

Transmission electron micrographs: lumbar spinal cord

脊髓神经元超微结构

肌张力障碍病理

Transmission electron micrographs of spinal neurons generated associated with Pocratsky et al 2023, Science Translational Medicine Images are from postn

DataCite Commons2023-03-27 更新80

Striatal cell type specific molecular signatures in a model of dystonia

肌张力障碍病理

纹状体细胞类型特异性分子特征

Striatal dysfunction is implicated in various forms of dystonia, including idiopathic, inherited, and iatrogenic types. The striatum is primarily composed of GABAergic spiny projection neurons or SPNs

NIAID Data Ecosystem10

The DYT6 dystonia causative protein THAP1 is responsible for proteasome activity via PSMB5 transcriptional regulation

肌张力障碍病理

蛋白酶体调控

The proteasome plays a pivotal role in protein degradation, and its impairment is associated with various pathological conditions, including neurodegenerative diseases. It is well understood that Nrf1

Alliance of Genome Resources00

Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model (RNA-Seq)

肌张力障碍病理

神经细胞转录组学

To elicit a dystonia-like phenotype in a genetically predisposed DYT-TOR1A mouse model (DYT1KI) by performing a right sciatic nerve crush injury. To identify novel pathophysiological pathways and poss

NIAID Data Ecosystem10

Transcription regulation of SNCA by dystonia type 6 gene product THAP1. Transcription regulation of SNCA by dystonia type 6 gene product THAP1

SNCA转录调控

肌张力障碍病理

This SuperSeries is composed of the SubSeries listed below. Overall design: Refer to individual Series

NIAID Data Ecosystem10