E. Schon

Publications276
h-index89
Citations28,402
Highly Influential Citations941
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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 cause…
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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
TLDR
There continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes, so it is important to update guidelines for monitoring autophagic activity in different organisms.
View on Taylor & Francis
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease
TLDR
It is proposed that upregulated MAM function at the ER–mitochondrial interface, and increased cross‐talk between these two organelles, may play a hitherto unrecognized role in the pathogenesis of AD.
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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
TLDR
Mammalian cytochrome c oxidase (COX) catalyses the transfer of reducing equivalents from cy tochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane and mutations in the human homologue, SCO2, in three unrelated infants with a newly recognized fatal cardioencephalomyopathy and COX deficiency are identified.
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Human mitochondrial DNA: roles of inherited and somatic mutations
TLDR
Insight into the roles of mtDNA mutations in a wide variety of diseases is discussed, highlighting the interesting genetic characteristics of the mitochondrial genome and challenges in studying its contribution to pathogenesis.
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Mitochondrial disorders in the nervous system.
TLDR
Altered mitochondrial dynamics in the etiology of specific neurological diseases and in the physiopathology of more common neurodegenerative disorders are reviewed.
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In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis
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Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria.
TLDR
Using three complementary approaches, subcellular fractionation, gamma-secretase activity assays, and immunocytochemistry, it is shown that presenilins are highly enriched in a subcompartment of the endoplasmic reticulum that is associated with mitochondria and that forms a physical bridge between the two organelles, called endoplasic Reticulum-mitochondria-associated membranes.
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The kinase domain of mitochondrial PINK1 faces the cytoplasm
TLDR
It is shown that this mitochondrial protein exhibits a topology in which the kinase domain faces the cytoplasm and the N-terminal tail is inside the mitochondria, and although deletion of the transmembrane domain disrupts this topology, common PD-linked PINK1 mutations do not.
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MELAS: Clinical features, biochemistry, and molecular genetics
TLDR
There was no clear correlation between percentage of mutant mitochondrial DNAs and severity of the biochemical defect, but there was a high concordance between clinical diagnosis of MELAS and transfer RNALeu(UUR) mutation.
View on Wiley
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