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Mitochondrial respiratory-chain diseases.
The mitochondrial respiratory chain has the crucial function of supplying the cell with energy in the form of ATP. Mutations affecting this chain can arise in mitochondrial or nuclear DNA and causeExpand
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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered theExpand
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Mitochondrial disorders in the nervous system.
Mitochondrial diseases (encephalomyopathies) have traditionally been ascribed to defects of the respiratory chain, which has helped researchers explain their genetic and clinical complexity. However,Expand
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Human mitochondrial DNA: roles of inherited and somatic mutations
Mutations in the human mitochondrial genome are known to cause an array of diverse disorders, most of which are maternally inherited, and all of which are associated with defects in oxidative energyExpand
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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
Mammalian cytochrome c oxidase (COX) catalyses the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. Mitochondrial DNAExpand
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Upregulated function of mitochondria-associated ER membranes in Alzheimer disease
Alzheimer disease (AD) is associated with aberrant processing of the amyloid precursor protein (APP) by γ‐secretase, via an unknown mechanism. We recently showed that presenilin‐1 and ‐2, theExpand
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In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis
Summary Increased mitochondrial biogenesis by activation of PPAR- or AMPK/PGC-1α-dependent homeostatic pathways has been proposed as a treatment for mitochondrial disease. We tested this hypothesisExpand
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Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria.
Presenilin-1 (PS1) and -2 (PS2), which when mutated cause familial Alzheimer disease, have been localized to numerous compartments of the cell, including the endoplasmic reticulum, Golgi, nuclearExpand
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α-Synuclein Is Localized to Mitochondria-Associated ER Membranes
Familial Parkinson disease is associated with mutations in α-synuclein (α-syn), a presynaptic protein that has been localized not only to the cytosol, but also to mitochondria. We report here thatExpand
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The kinase domain of mitochondrial PINK1 faces the cytoplasm
Mutations in PTEN-induced putative kinase 1 (PINK1) are a cause of autosomal recessive familial Parkinson's disease (PD). Efforts in deducing the PINK1 signaling pathway have been hindered byExpand
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