Mitochondrial complex I-linked disease

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Function of mitochondrial complex-I and -IV in normal human and Parkinson's disease cybrids

Mitochondrial dysfunction has been implicated in the dopaminergic neurodegeneration, which characterizes Parkinson’s disease (PD). The activities of mitochondrial complexes I and IV were found to be reduced in the brains of PD patients (n = 4) as compared to age-matched controls (n = 4). This is tested in SH-SY5Y cell lines, transformed Rho0 cells, and in normal and PD cybrid cell lines. Cybrid...

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Function of mitochondrial complex-I and -IV in normal human and Parkinson's disease cybrids

Mitochondrial dysfunction has been implicated in the dopaminergic neurodegeneration, which characterizes Parkinson’s disease (PD). The activities of mitochondrial complexes I and IV were found to be reduced in the brains of PD patients (n = 4) as compared to age-matched controls (n = 4). This is tested in SH-SY5Y cell lines, transformed Rho0 cells, and in normal and PD cybrid cell lines. Cybrid...

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Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

Mitochondria are essential for cellular bioenergetics by way of energy production in the form of ATP through the process of oxidative phosphorylation. This crucial task is executed by five multi-protein complexes of which mitochondrial NADH:ubiquinone oxidoreductase or complex I is the largest and most complicated one. During recent years, mutations in nuclear genes encoding structural subunits...

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Impaired complex-I mitochondrial biogenesis in Parkinson disease frontal cortex.

Parkinson's disease (PD) can include a progressive frontal lobe α-synucleinopathy with disability from cognitive decline and cortico-limbic dysregulation that may arise from bioenergetic impairments. We examined in PD frontal cortex regulation of mitochondrial biogenesis (mitobiogenesis) and its effects on Complex-I. We quantified expression of 33 nuclear genome (nDNA)-encoded and 7 mitochondri...

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A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

Mitochondria are complex organelles whose dysfunction underlies a broad spectrum of human diseases. Identifying all of the proteins resident in this organelle and understanding how they integrate into pathways represent major challenges in cell biology. Toward this goal, we performed mass spectrometry, GFP tagging, and machine learning to create a mitochondrial compendium of 1098 genes and thei...

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ژورنال

عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Bioenergetics

سال: 2016

ISSN: 0005-2728

DOI: 10.1016/j.bbabio.2016.02.012