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

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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

A Rat Model of Hemidystonia Induced by 3-Nitropropionic Acid

神经疾病动物模型

肌张力障碍病理

Objective Secondary dystonia commonly presents as hemidystonia and is often refractory to current treatments. We aimed to establish an inducible rat model of hemidystonia utilizing 3-nitropropionic ac

NIAID Data Ecosystem60

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

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

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

Transmission electron micrographs: dorsal root ganglia

神经超微结构

肌张力障碍病理

Transmission electron micrographs of dorsal root ganglia neurons associated with Pocratsky et al 2023, Science Translational Medicine TEM_DRG_metaData.xlsx: summary spreadsheet of raw images provided

Figshare2023-03-27 更新00

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

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