Point mutation FA patients.

NIAID Data Ecosystem2026-03-07 收录

弗里德赖希共济失调病理机制

点突变分子表型分析

数据链接：

https://figshare.com/articles/dataset/_Point_mutation_FA_patients_/462590 数据链接链接失效反馈

官方服务：

资源简介：

Demographics, neurological data, frataxin protein and FXN mRNA levels in pFA. Frataxin protein % and FXN mRNA levels % are expressed as relative to the control group.

创建时间：

2011-03-11

ATP1A3 Mutation in Adult Rapid-Onset Ataxia

神经遗传学

弗里德赖希共济失调病理机制

A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in ATP1A3, the gene encoding the α3 subunit of

NIAID Data Ecosystem50

Chronic abnormal redox status in fibroblasts from patients with Friedreich ataxia.

弗里德赖希共济失调病理机制

氧化还原状态

Experimental conditions as described in the methods section. *p<0.05 and ***p<0.001 respectively.

NIAID Data Ecosystem40

Demographic, anthropometric and disease specific characteristics in adults and children with Friedreich ataxia.

弗里德赖希共济失调病理机制

神经退行性疾病患者数据

Demographic, anthropometric and disease specific characteristics in adults and children with Friedreich ataxia.

NIAID Data Ecosystem20

CRISPR/Cas9 targeted deletions in frataxin rescue Friedreich’s ataxia pathology in a human stem cell-based peripheral sensory neural circuitry. CRISPR/Cas9 targeted deletions in frataxin rescue Friedreich’s ataxia pathology in a human stem cell-based peripheral sensory neural circuitry

弗里德赖希共济失调病理机制

CRISPRi基因编辑

Friedreich's ataxia (FRDA) is an autosomal-recessive neurodegenerative and cardiac disorder which occurs when transcription of the FXN gene is silenced due to an excessive expansion of GAA repeats int

NIAID Data Ecosystem40

Long Range Regulation of Human FXN Gene Expression

疾病遗传调控

弗里德赖希共济失调病理机制

BackgroundFriedreich ataxia (FRDA) is the most common form of hereditary ataxia characterized by the presence of a GAA trinucleotide repeat expansion within the first intron of the FXN gene. The expan

NIAID Data Ecosystem30

Point mutation FA patients.

资源简介：

相关数据集