RTN4IP1 deficiency causes a severe CI assembly defect

NIAID Data Ecosystem2026-05-02 收录

线粒体复合物I缺乏症

呼吸链组装

数据链接：

https://www.omicsdi.org/dataset/pride/PXD064861 数据链接链接失效反馈

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资源简介：

Here we used complexome profiling to characterize the functional consequences of RTN4IP1 mutations in RTN4IP1 cells.

创建时间：

2025-08-08

Complexome profiling of mitochondrial protein complexes from patients with mutation in NDUFC2 gene

线粒体复合物I缺乏症

蛋白质组装

NDUFC2 is a subunit of the membrane part of NADH:ubiquinone oxidoreductase (complex I). Here we used complexome profiling to study the role of NDUFC2 in complex I stability and assembly.

NIAID Data Ecosystem50

Supplementary Data File 7: Large muscle section area immunohistochemistry

帕金森病神经病理

线粒体复合物I缺乏症

Large muscle section area immunohistochemistry data from the study "Mitochondrial complex I deficiency occurs in skeletal muscle of a subgroup of individuals with Parkinson’s disease".

Figshare2025-02-25 更新30

A novel variation in the mitochondrial complex I assembly factor NDUFAF5 causes isolated bilateral striatal necrosis in childhood

遗传性神经退行性病基因突变

线粒体复合物I缺乏症

To identify novel missense mutations in NDUFAF5 gene as a cause of childhood BSN in members of a Chinese family and summarize the clinical characteristics of patients with the NDUFAF5genemutations.

NIAID Data Ecosystem20

Metabolome and Proteome Profiling of Complex I Deficiency Induced by Rotenone

线粒体代谢

线粒体复合物I缺乏症

Complex I (CI; NADH dehydrogenase) deficiency causes mitochondrial diseases, including Leigh syndrome. A variety of clinical symptoms of CI deficiency are known, including neurodegeneration. Here, we

NIAID Data Ecosystem40

Additional file 5: Table S4. of Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system

线粒体复合物I缺乏症

氧化磷酸化基因

DAVID gene functional classification results of the top five percent complex I co-expressing genes. (XLSX 27 kb)

Figshare2016-12-14 更新30