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- Publications
- Influence
Mitochondrial respiratory-chain diseases.
- S. Dimauro, E. Schon
- Biology, Medicine
- The New England journal of medicine
- 26 June 2003
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… Expand
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
- D. Klionsky, Kotb Abdelmohsen, +2,464 authors S. Zughaier
- Biology, Medicine
- Autophagy
- 18 April 2012
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 the… Expand
Mitochondrial disorders in the nervous system.
- S. Dimauro, E. Schon
- Biology, Medicine
- Annual review of neuroscience
- 17 June 2008
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
Human mitochondrial DNA: roles of inherited and somatic mutations
- E. Schon, S. Dimauro, M. Hirano
- Biology, Medicine
- Nature Reviews Genetics
- 1 December 2012
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 energy… Expand
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
- L. C. Papadopoulou, C. Sue, +18 authors E. Schon
- Biology, Medicine
- Nature Genetics
- 1 November 1999
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 DNA… Expand
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease
- E. Area-Gomez, Maria del Carmen Lara Castillo, +8 authors E. Schon
- Biology, Medicine
- The EMBO journal
- 14 August 2012
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, the… Expand
In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis
- C. Viscomi, Emanuela Bottani, +6 authors M. Zeviani
- Biology, Medicine
- Cell metabolism
- 6 July 2011
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 hypothesis… Expand
Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria.
- E. Area-Gomez, Ad J C de Groof, +8 authors E. Schon
- Biology, Medicine
- The American journal of pathology
- 1 November 2009
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, nuclear… Expand
α-Synuclein Is Localized to Mitochondria-Associated ER Membranes
- C. Guardia‐Laguarta, E. Area-Gomez, +6 authors S. Przedborski
- Biology, Medicine
- The Journal of Neuroscience
- 1 January 2014
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 that… Expand
The kinase domain of mitochondrial PINK1 faces the cytoplasm
- C. Zhou, Y. Huang, +6 authors S. Przedborski
- Biology, Medicine
- Proceedings of the National Academy of Sciences
- 19 August 2008
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 by… Expand