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

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 Ecosystem50

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 Ecosystem40

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 Ecosystem20

Intracellular spinal recordings: patch-clamp and dorsal root evoked excitatory post-synaptic currents

神经元电生理

肌张力障碍病理

Intracellular recording dataset from spinal motoneurons associated with Pocratsky et al 2023, Science Translational Medicine Data generated from isolate

DataCite Commons2023-03-27 更新40

Peripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1+/− mice

肌张力障碍病理

代谢组学

DYT-THAP1 dystonia is a monogenetic form of dystonia, a movement disorder characterized by involuntary muscle contractions. The disease is caused by mutations in the THAP1 gene, although the exact mec

NIAID Data Ecosystem20

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

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