Works matching AU Schon, Eric A.

Results: 59

Does premature aging of the mtDNA mutator mouse prove that mtDNA mutations are involved in natural aging?

Published in:

Aging Cell, 2006, v. 5, n. 3, p. 279, doi. 10.1111/j.1474-9726.2006.00209.x

By:

Khrapko, Konstantin;
Kraytsberg, Yevgenya;
De Grey, Aubrey D. N. J.;
Vijg, Jan;
Schon, Eric A.

Publication type:

Article

Mitochondrial Genetics and Disease.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 9, p. 1208, doi. 10.1177/0883073814539561

By:

Area-Gomez, Estela;
Schon, Eric A.

Publication type:

Article

Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.

Published in:

EMBO Journal, 2012, v. 31, n. 21, p. 4106, doi. 10.1038/emboj.2012.202

By:

Area-Gomez, Estela;
del Carmen Lara Castillo, Maria;
Tambini, Marc D;
Guardia-Laguarta, Cristina;
de Groof, Ad J C;
Madra, Moneek;
Ikenouchi, Junichi;
Umeda, Masato;
Bird, Thomas D;
Sturley, Stephen L;
Schon, Eric A

Publication type:

Article

Mitochondrial DNA Mutations in Cancer.

Published in:

PLoS Medicine, 2005, v. 2, n. 11, p. 1082, doi. 10.1371/journal.pmed.0020401

By:

Zanssen, Stefanie;
Schon, Eric A.

Publication type:

Article

Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease.

Published in:

Cell Death & Disease, 2024, v. 15, n. 6, p. 1, doi. 10.1038/s41419-024-06781-9

By:

Morcillo, Patricia;
Kabra, Khushbu;
Velasco, Kevin;
Cordero, Hector;
Jennings, Sarah;
Yun, Taekyung D.;
Larrea, Delfina;
Akman, H. Orhan;
Schon, Eric A.

Publication type:

Article

A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease.

Published in:

Cell Death & Disease, 2018, v. 9, n. 3, p. 1, doi. 10.1038/s41419-017-0215-0

By:

Area-Gomez, Estela;
de Groof, Ad;
Bonilla, Eduardo;
Montesinos, Jorge;
Tanji, Kurenai;
Boldogh, Istvan;
Pon, Liza;
Schon, Eric A.

Publication type:

Article

Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?

Published in:

EMBO Molecular Medicine, 2014, v. 6, n. 2, p. 155, doi. 10.1002/emmm.201303586

By:

Tyynismaa, Henna;
Schon, Eric A.

Publication type:

Article

Modulation of mitochondrial protein phosphorylation by soluble adenylyl cyclase ameliorates cytochrome oxidase defects.

Published in:

EMBO Molecular Medicine, 2009, v. 1, n. 8/9, p. 392, doi. 10.1002/emmm.200900046

By:

Acin-Perez, Rebeca;
Salazar, Eric;
Brosel, Sonja;
Yang, Hua;
Schon, Eric A.;
Manfredi, Giovanni

Publication type:

Article

Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells.

Published in:

Annals of Neurology, 2004, v. 56, n. 5, p. 662

By:

Sumana Santra;
Robert W. Gilkerson;
Mercy Davidson;
Eric A. Schon

Publication type:

Article

Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy.

Published in:

Annals of Neurology, 2002, v. 52, n. 5, p. 534, doi. 10.1002/ana.10354

By:

Guy, John;
Qi, Xiaoping;
Pallotti, Francesco;
Schon, Eric A.;
Manfredi, Giovanni;
Carelli, Valerio;
Martinuzzi, Andrea;
Hauswirth, William W.;
Lewin, Alfred S.

Publication type:

Article

Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system.

Published in:

1999

By:

Tanji, Kurenai;
Vu, Tuan H.;
Schon, Eric A.;
DiMauro, Salvatore;
Bonilla, Eduardo;
Tanji, K;
Vu, T H;
Schon, E A;
DiMauro, S;
Bonilla, E

Publication type:

journal article

Neurotrophin-4 is up-regulated in ragged-red fibers associated with pathogenic mitochondrial DNA mutations.

Published in:

1998

By:

Walker, Ulrich A.;
Schon, Eric A.;
Walker, U A;
Schon, E A

Publication type:

journal article

Association of myopathy with large-scale mitochondrial dna duplications and deletions: Which is pathogenic?

Published in:

Annals of Neurology, 1997, v. 42, n. 2, p. 180, doi. 10.1002/ana.410420208

By:

Manfredi, Giovanni;
Vu, Tuan;
Bonilla, Eduardo;
Schon, Eric A.;
DiMauro, Salvatore;
Arnaudo, Enrica;
Zhang, Lee;
Rowland, Lewis P.;
Hirano, Michio

Publication type:

Article

Mitochondrial DNA and RNA processing in MELAS.

Published in:

Annals of Neurology, 1996, v. 40, n. 2, p. 172, doi. 10.1002/ana.410400208

By:

Kaufmann, Petra;
Shanske, Sara;
Hirano, Michio;
DiMauro, Salvatore;
King, Michael P.;
Koga, Yasutoshi;
Schon, Eric A.

Publication type:

Article

Increased localization of APP-C99 in mitochondria-associated ER membranes causes mitochondrial dysfunction in Alzheimer disease.

Published in:

EMBO Journal, 2017, v. 36, n. 22, p. 3356, doi. 10.15252/embj.201796797

By:

Pera, Marta;
Larrea, Delfina;
Guardia‐Laguarta, Cristina;
Montesinos, Jorge;
Velasco, Kevin R;
Agrawal, Rishi R;
Xu, Yimeng;
Chan, Robin B;
Di Paolo, Gilbert;
Mehler, Mark F;
Perumal, Geoffrey S;
Macaluso, Frank P;
Freyberg, Zachary Z;
Acin‐Perez, Rebeca;
Enriquez, Jose Antonio;
Schon, Eric A;
Area‐Gomez, Estela

Publication type:

Article

Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability.

Published in:

EMBO Journal, 2016, v. 35, n. 18, p. 1979, doi. 10.15252/embj.201694892

By:

Perales‐Clemente, Ester;
Cook, Alexandra N;
Evans, Jared M;
Roellinger, Samantha;
Secreto, Frank;
Emmanuele, Valentina;
Oglesbee, Devin;
Mootha, Vamsi K;
Hirano, Michio;
Schon, Eric A;
Terzic, Andre;
Nelson, Timothy J

Publication type:

Article

A new role for α-synuclein in Parkinson's disease: Alteration of ER-mitochondrial communication.

Published in:

Movement Disorders, 2015, v. 30, n. 8, p. 1026, doi. 10.1002/mds.26239

By:

Guardia-Laguarta, Cristina;
Area-Gomez, Estela;
Schon, Eric A.;
Przedborski, Serge

Publication type:

Article

ApoE4 upregulates the activity of mitochondria-associated ER membranes.

Published in:

EMBO Reports, 2016, v. 17, n. 1, p. 27, doi. 10.15252/embr.201540614

By:

Tambini, Marc D;
Pera, Marta;
Kanter, Ellen;
Yang, Hua;
Guardia‐Laguarta, Cristina;
Holtzman, David;
Sulzer, David;
Area‐Gomez, Estela;
Schon, Eric A

Publication type:

Article

MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1782, doi. 10.1093/hmg/ddz008

By:

Larrea, Delfina;
Pera, Marta;
Gonnelli, Adriano;
Quintana–Cabrera, Rubén;
Akman, H Orhan;
Guardia-Laguarta, Cristina;
Velasco, Kevin R;
Area-Gomez, Estela;
Bello, Federica Dal;
Stefani, Diego De;
Horvath, Rita;
Shy, Michael E;
Schon, Eric A;
Giacomello, Marta

Publication type:

Article

Mitochondrial diseases: Genetics.

Published in:

Biofactors, 1998, v. 7, n. 3, p. 191, doi. 10.1002/biof.5520070304

By:

Schon, Eric A.;
Grossman, Mark H.

Publication type:

Article

Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.

Published in:

1998

By:

Sciacco, Monica;
Gasparo-Rippa, Pasquale;
Vu, Tuan H.;
Tanji, Kurenai;
Shanske, Sara;
Mendell, Jerry R.;
Schon, Eric A.;
DiMauro, Salvatore;
Bonilla, Eduardo;
Sciacco, M;
Gasparo-Rippa, P;
Vu, T H;
Tanji, K;
Shanske, S;
Mendell, J R;
Schon, E A;
DiMauro, S;
Bonilla, E

Publication type:

journal article

Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA<sup>Leu(UUR)</sup> gene.

Published in:

Muscle & Nerve, 1995, v. 18, n. S14, p. S119, doi. 10.1002/mus.880181424

By:

Koga, Yasutoshi;
Davidson, Mercy;
Schon, Eric A.;
King, Michael P.

Publication type:

Article

Differential expression of nuclear genes for cytochrome c oxidase during myogenesis.

Published in:

Muscle & Nerve, 1990, v. 13, n. 4, p. 330, doi. 10.1002/mus.880130409

By:

Lomax, Magaret I.;
Coucouvanis, Electra;
Schon, Eric A.;
Barald, Kate F.

Publication type:

Article

α-Synuclein Is Localized to Mitochondria-Associated ER Membranes.

Published in:

Journal of Neuroscience, 2014, v. 34, n. 1, p. 249, doi. 10.1523/JNEUROSCI.2507-13.2014

By:

Guardia-Laguarta, Cristina;
Area-Gomez, Estela;
Rüb, Cornelia;
Yuhui Liu;
Magrané, Jordi;
Becker, Dorothea;
Voos, Wolfgang;
Schon, Eric A.;
Przedborski, Serge

Publication type:

Article

Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus.

Published in:

Nature Genetics, 2002, v. 30, n. 4, p. 394, doi. 10.1038/ng851

By:

Manfredi, Giovanni;
Fu, Jin;
Ojaimi, Joseline;
Sadlock, James E.;
Kwong, Jennifer Q.;
Guy, John;
Schon, Eric A.

Publication type:

Article

Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep.

Published in:

Nature Genetics, 1999, v. 23, n. 1, p. 90, doi. 10.1038/12696

By:

Evans, Matthew J.;
Gurer, Cagan;
Loike, John D.;
Wilmut, Ian;
Schnieke, Angelika E.;
Schon, Eric A.

Publication type:

Article

Nuclear power and mitochondrial disease.

Published in:

Nature Genetics, 1998, v. 19, n. 3, p. 214, doi. 10.1038/883

By:

DiMauro, Salvatore;
Schon, Eric A.

Publication type:

Article

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.

Published in:

2018

By:

Rebelo, Adriana P.;
Saade, Dimah;
Pereira, Claudia V.;
Farooq, Amjad;
Huff, Tyler C.;
Abreu, Lisa;
Moraes, Carlos T.;
Mnatsakanova, Diana;
Mathews, Kathy;
Hua Yang;
Schon, Eric A.;
Zuchner, Stephan;
Shy, Michael E.;
Yang, Hua

Publication type:

journal article

Identification of a mutation in the mitochondrial tRNA<sup>Cys</sup> gene associated with mitochondrial encephalopathy.

Published in:

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

By:

Manfredi, Giovanni;
Schon, Eric A.;
Bonilla, Eduardo;
Moraes, Carlos T.;
Shanske, Sara;
DiMauro, Salvatore

Publication type:

Article

Mitochondrial DNA and Diseases of the Nervous System: The Spectrum.

Published in:

Neuroscientist, 1998, v. 4, n. 1, p. 53, doi. 10.1177/107385849800400113

By:

Dimauro, Salvatore;
Schon, Eric A.

Publication type:

Article

Germ-Line Therapy to Cure Mitochondrial Disease: Protocol and Ethics of In Vitro Ovum Nuclear Transplantation.

Published in:

Cambridge Quarterly of Healthcare Ethics, 1995, v. 4, n. 3, p. 316, doi. 10.1017/S0963180100006071

By:

Rubenstein, Donald S.;
Thomasma, David C.;
Schon, Eric A.;
Zinaman, Michael J.

Publication type:

Article

Novel subcellular localization for - synuclein: possible functional consequences.

Published in:

Frontiers in Neuroanatomy, 2015, v. 9, p. 1, doi. 10.3389/fnana.2015.00017

By:

Guardia-Laguarta, Cristina;
Area-Gomez, Estela;
Schon, Eric A.;
Przedborski, Serge

Publication type:

Article

A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency.

Published in:

Nature Medicine, 1999, v. 5, n. 8, p. 951, doi. 10.1038/11396

By:

Brini, Marisa;
Pinton, Paolo;
King, Michael P.;
Davidson, Mercy;
Schon, Eric A.;
Rizzuto, Rosario

Publication type:

Article

Human mitochondrial DNA: roles of inherited and somatic mutations.

Published in:

Nature Reviews Genetics, 2012, v. 13, n. 12, p. 878, doi. 10.1038/nrg3275

By:

Schon, Eric A.;
DiMauro, Salvatore;
Hirano, Michio

Publication type:

Article

Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation.

Published in:

Journal of Cell Biology, 2008, v. 181, n. 7, p. 1117, doi. 10.1083/jcb.200712101

By:

Gilkerson, Robert W.;
Hernandez, Evelyn;
Davidson, Mercy M.;
Schon, Eric A.

Publication type:

Article

Nucleoid autonomy.

Published in:

Communicative & Integrative Biology, 2008, v. 1, n. 1, p. 34, doi. 10.4161/cib.1.1.6622

By:

Gilkerson, Robert W.;
Schon, Eric A.

Publication type:

Article

Is Alzheimer's Disease a Disorder of Mitochondria-Associated Membranes?

Published in:

Journal of Alzheimer's Disease, 2010, v. 20, p. 281, doi. 10.3233/JAD-2010-100495

By:

Schon, Eric A.;
Area-Gomez, Estela

Publication type:

Article

Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects.

Published in:

Muscle & Nerve, 2002, v. 26, n. 5, p. 597, doi. 10.1002/mus.10194

By:

DiMauro, Salvatore;
Tanji, Kurenai;
Bonilla, Eduardo;
Pallotti, Francesco;
Schon, Eric A.

Publication type:

Article

Clinical and Biochemical Studies on Cytochrome Oxidase Deficienciesa.

Published in:

Annals of the New York Academy of Sciences, 1988, v. 550, n. 1, p. 348, doi. 10.1111/j.1749-6632.1988.tb35349.x

By:

SCHON, ERIC A.;
BONILLA, EDUARDO;
LOMBES, ANNE;
MORAES, CARLOS T.;
NAKASE, HIROFUMI;
RIZZUTO, ROSARIO;
ZEVIANI, MASSIMO;
DiMAURO, SALVATORE

Publication type:

Article

Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4588, doi. 10.1093/hmg/ddx341

By:

Siegmund, Stephanie E.;
Hua Yang;
Sharma, Rohit;
Javors, Martin;
Skinner, Owen;
Mootha, Vamsi;
Hirano, Michio;
Schon, Eric A.

Publication type:

Article

Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 13, p. 3608, doi. 10.1093/hmg/ddv106

By:

Martínez-Morentin, Leticia;
Martínez, Lidia;
Piloto, Sarah;
Hua Yang;
Schon, Eric A.;
Garesse, Rafael;
Bodmer, Rolf;
Ocorr, Karen;
Cervera, Margarita;
Arredondo, Juan J.

Publication type:

Article

Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 978, doi. 10.1093/hmg/ddr529

By:

Gilkerson, Robert W.;
De Vries, Rosa L.A.;
Lebot, Paul;
Wikstrom, Jakob D.;
Torgyekes, Edina;
Shirihai, Orian S.;
Przedborski, Serge;
Schon, Eric A.

Publication type:

Article

Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 1, p. 170, doi. 10.1093/hmg/ddp477

By:

Yang, Hua;
Brosel, Sonja;
Acin-Perez, Rebeca;
Slavkovich, Vesna;
Nishino, Ichizo;
Khan, Raffay;
Goldberg, Ira J.;
Graziano, Joseph;
Manfredi, Giovanni;
Schon, Eric A.

Publication type:

Article

A functionally dominant mitochondrial DNA mutation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 12, p. 1814, doi. 10.1093/hmg/ddn073

By:

Sacconi, Sabrina;
Salviati, Leonardo;
Nishigaki, Yutaka;
Walker, Winsome F.;
Hernandez-Rosa, Evelyn;
Trevisson, Eva;
Delplace, Severine;
Desnuelle, Claude;
Shanske, Sara;
Hirano, Michio;
Schon, Eric A.;
Bonilla, Eduardo;
De Vivo, Darryl C.;
DiMauro, Salvatore;
Davidson, Mercy M.

Publication type:

Article

Mitochondrial Respiratory Chain Diseases and Mutations in Nuclear DNA: A Promising Start?

Published in:

Brain Pathology, 2000, v. 10, n. 3, p. 442, doi. 10.1111/j.1750-3639.2000.tb00276.x

By:

Sue, Carolyn M.;
Schon, Eric A.

Publication type:

Article

Myoclonic Epilepsy with Ragged-red Fibers (MERRF): An Immunohistochemical Study of the Brain.

Published in:

Brain Pathology, 1995, v. 5, n. 2, p. 125, doi. 10.1111/j.1750-3639.1995.tb00586.x

By:

Sparaco, Marco;
Schon, Eric A.;
DiMauro, Salvatore;
Bonilla, Eduardo

Publication type:

Article

Chromosomal non-disjunction in human oocytes: is there a mitochondrial connection?

Published in:

Human Reproduction, 2000, v. 15, n. suppl_2, p. 160, doi. 10.1093/humrep/15.suppl_2.160

By:

Schon, Eric A.;
Kim, Sang Ho;
Ferreira, José C.;
Magalhães, Paulo;
Grace, Marcy;
Warburton, Dorothy;
Gross, Susan J.

Publication type:

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.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 3, p. 449

By:

Petruzzella, Vittorla;
Moraes, Carlos T.;
Sano, Mary C.;
Bonilla, S Eduardo;
DiMauro, Salvatore;
Schon, Eric A.

Publication type:

Article

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 13

By:

Sciacco, Monica;
Bonilla, Eduardo;
Schon, Eric A.;
DiMauro, Salvatore;
Moraes, Carlos T.

Publication type:

Article

A toolkit for the cell's powerhouse.

Published in:

Nature Biotechnology, 2008, v. 26, n. 3, p. 294, doi. 10.1038/nbt0308-294

By:

Schon, Eric A.

Publication type:

Article