Works matching AU Schon, Eric A.
Results: 59
Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease.
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- Cell Death & Disease, 2024, v. 15, n. 6, p. 1, doi. 10.1038/s41419-024-06781-9
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- Article
A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease.
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- Cell Death & Disease, 2018, v. 9, n. 3, p. 1, doi. 10.1038/s41419-017-0215-0
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- Article
A toolkit for the cell's powerhouse.
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- Nature Biotechnology, 2008, v. 26, n. 3, p. 294, doi. 10.1038/nbt0308-294
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- Article
α-Synuclein Is Localized to Mitochondria-Associated ER Membranes.
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- Journal of Neuroscience, 2014, v. 34, n. 1, p. 249, doi. 10.1523/JNEUROSCI.2507-13.2014
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- Article
Germ-Line Therapy to Cure Mitochondrial Disease: Protocol and Ethics of In Vitro Ovum Nuclear Transplantation.
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- Cambridge Quarterly of Healthcare Ethics, 1995, v. 4, n. 3, p. 316, doi. 10.1017/S0963180100006071
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- Article
Clinical and Biochemical Studies on Cytochrome Oxidase Deficienciesa.
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- Annals of the New York Academy of Sciences, 1988, v. 550, n. 1, p. 348, doi. 10.1111/j.1749-6632.1988.tb35349.x
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- Article
Identification of a mutation in the mitochondrial tRNA<sup>Cys</sup> gene associated with mitochondrial encephalopathy.
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- Human Mutation, 1996, v. 7, n. 2, p. 158, doi. 10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1
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- Article
Human mitochondrial DNA: roles of inherited and somatic mutations.
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- Nature Reviews Genetics, 2012, v. 13, n. 12, p. 878, doi. 10.1038/nrg3275
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- Article
Is Alzheimer's Disease a Disorder of Mitochondria-Associated Membranes?
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- Journal of Alzheimer's Disease, 2010, v. 20, p. 281, doi. 10.3233/JAD-2010-100495
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- Article
Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition.
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- Human Molecular Genetics, 2012, v. 21, n. 5, p. 978, doi. 10.1093/hmg/ddr529
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- Article
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2.
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- Human Molecular Genetics, 2010, v. 19, n. 1, p. 170, doi. 10.1093/hmg/ddp477
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- Article
A functionally dominant mitochondrial DNA mutation.
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- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1814, doi. 10.1093/hmg/ddn073
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- Article
Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA<sup>Leu(UUR)</sup> gene.
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- Muscle & Nerve, 1995, v. 18, n. S14, p. S119, doi. 10.1002/mus.880181424
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- Article
Differential expression of nuclear genes for cytochrome c oxidase during myogenesis.
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- Muscle & Nerve, 1990, v. 13, n. 4, p. 330, doi. 10.1002/mus.880130409
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- Article
Mitochondrial Respiratory Chain Diseases and Mutations in Nuclear DNA: A Promising Start?
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- Brain Pathology, 2000, v. 10, n. 3, p. 442, doi. 10.1111/j.1750-3639.2000.tb00276.x
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- Article
Myoclonic Epilepsy with Ragged-red Fibers (MERRF): An Immunohistochemical Study of the Brain.
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- Brain Pathology, 1995, v. 5, n. 2, p. 125, doi. 10.1111/j.1750-3639.1995.tb00586.x
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- Article
Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability.
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- EMBO Journal, 2016, v. 35, n. 18, p. 1979, doi. 10.15252/embj.201694892
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- Article
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.
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- EMBO Journal, 2012, v. 31, n. 21, p. 4106, doi. 10.1038/emboj.2012.202
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- Article
Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects.
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- Muscle & Nerve, 2002, v. 26, n. 5, p. 597, doi. 10.1002/mus.10194
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- Article
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.
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- 1998
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- journal article
Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells.
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- Annals of Neurology, 2004, v. 56, n. 5, p. 662
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- Article
Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy.
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- Annals of Neurology, 2002, v. 52, n. 5, p. 534, doi. 10.1002/ana.10354
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- Article
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
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- 2018
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- Publication type:
- journal article
A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency.
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- Nature Medicine, 1999, v. 5, n. 8, p. 951, doi. 10.1038/11396
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- Article
Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system.
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- 1999
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- journal article
Neurotrophin-4 is up-regulated in ragged-red fibers associated with pathogenic mitochondrial DNA mutations.
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- 1998
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- journal article
Association of myopathy with large-scale mitochondrial dna duplications and deletions: Which is pathogenic?
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- Annals of Neurology, 1997, v. 42, n. 2, p. 180, doi. 10.1002/ana.410420208
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- Article
Mitochondrial DNA and RNA processing in MELAS.
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- Annals of Neurology, 1996, v. 40, n. 2, p. 172, doi. 10.1002/ana.410400208
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- Article
On the Pathogenesis of Alzheimer's Disease: The MAM Hypothesis.
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- FASEB Journal, 2017, v. 31, n. 3, p. 864, doi. 10.1096/fj.201601309
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- Article
ATP-binding cassette transporters and sterol O-acyltransferases interact at membrane microdomains to modulate sterol uptake and esterification.
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- FASEB Journal, 2015, v. 29, n. 11, p. 4682, doi. 10.1096/fj.14-264796
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- Article
Mitochondrial DNA Mutations in Cancer.
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- PLoS Medicine, 2005, v. 2, n. 11, p. 1082, doi. 10.1371/journal.pmed.0020401
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- Article
Does premature aging of the mtDNA mutator mouse prove that mtDNA mutations are involved in natural aging?
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- Aging Cell, 2006, v. 5, n. 3, p. 279, doi. 10.1111/j.1474-9726.2006.00209.x
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- Article
Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation.
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- Journal of Cell Biology, 2008, v. 181, n. 7, p. 1117, doi. 10.1083/jcb.200712101
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- Article
Extremely high levels of mutant mtDNAs co-localize with cytocohrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 449
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- Article
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 13
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- Article
Mitochondrial diseases: Genetics.
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- Biofactors, 1998, v. 7, n. 3, p. 191, doi. 10.1002/biof.5520070304
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- Article
Increased localization of APP-C99 in mitochondria-associated ER membranes causes mitochondrial dysfunction in Alzheimer disease.
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- EMBO Journal, 2017, v. 36, n. 22, p. 3356, doi. 10.15252/embj.201796797
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- Article
Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep.
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- Nature Genetics, 1999, v. 23, n. 1, p. 90, doi. 10.1038/12696
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- Article
Nuclear power and mitochondrial disease.
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- Nature Genetics, 1998, v. 19, n. 3, p. 214, doi. 10.1038/883
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- Article
Mitochondria, OxPhos, and neurodegeneration: cells are not just running out of gas.
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- 2019
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- Publication type:
- journal article
ApoE4 upregulates the activity of mitochondria-associated ER membranes.
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- EMBO Reports, 2016, v. 17, n. 1, p. 27, doi. 10.15252/embr.201540614
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- Article
Novel subcellular localization for - synuclein: possible functional consequences.
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- Frontiers in Neuroanatomy, 2015, v. 9, p. 1, doi. 10.3389/fnana.2015.00017
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- Article
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
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- 2012
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- Publication type:
- journal article
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 21, doi. 10.1186/1750-1172-7-21
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- Publication type:
- Article
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus.
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- Nature Genetics, 2002, v. 30, n. 4, p. 394, doi. 10.1038/ng851
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- Publication type:
- Article
MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
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- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1782, doi. 10.1093/hmg/ddz008
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- Publication type:
- Article
Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome.
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- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4588, doi. 10.1093/hmg/ddx341
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- Article
Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model.
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- Human Molecular Genetics, 2015, v. 24, n. 13, p. 3608, doi. 10.1093/hmg/ddv106
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- Article
Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in mice.
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- 2010
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- Publication type:
- journal article
Power, sex, suicide.
- Published in:
- 2006
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- Publication type:
- Book Review