Search Results - "Schon, Eric A."

Mitochondria: The Next (Neurode)Generation by Schon, Eric A., Przedborski, Serge

“…Adult-onset neurodegenerative disorders are disabling and often fatal diseases of the nervous system whose underlying mechanisms of cell death remain unknown…”
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On the Pathogenesis of Alzheimer's Disease: The MAM Hypothesis by Area-Gomez, Estela, Schon, Eric A.

“…ABSTRACT The pathogenesis of Alzheimer's disease (AD) is currently unclear and is the subject of much debate. The most widely accepted hypothesis designed to…”
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NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease by Cerutti, Raffaele, Pirinen, Eija, Lamperti, Costanza, Marchet, Silvia, Sauve, Anthony A., Li, Wei, Leoni, Valerio, Schon, Eric A., Dantzer, Françoise, Auwerx, Johan, Viscomi, Carlo, Zeviani, Massimo

“…Mitochondrial disorders are highly heterogeneous conditions characterized by defects of the mitochondrial respiratory chain. Pharmacological activation of…”
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Mitochondrial Disorders in the Nervous System by DIMAURO, Salvatore, SCHON, Eric A

“…Mitochondrial diseases (encephalomyopathies) have traditionally been ascribed to defects of the respiratory chain, which has helped researchers explain their…”
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A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease by Area-Gomez, Estela, de Groof, Ad, Bonilla, Eduardo, Montesinos, Jorge, Tanji, Kurenai, Boldogh, Istvan, Pon, Liza, Schon, Eric A.

“…In the last few years, increased emphasis has been devoted to understanding the contribution of mitochondria-associated endoplasmic reticulum (ER) membranes…”
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In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis by Viscomi, Carlo, Bottani, Emanuela, Civiletto, Gabriele, Cerutti, Raffaele, Moggio, Maurizio, Fagiolari, Gigliola, Schon, Eric A., Lamperti, Costanza, Zeviani, Massimo

“…Increased mitochondrial biogenesis by activation of PPAR- or AMPK/PGC-1α-dependent homeostatic pathways has been proposed as a treatment for mitochondrial…”
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Upregulated function of mitochondria-associated ER membranes in Alzheimer disease 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

“…Alzheimer disease (AD) is associated with aberrant processing of the amyloid precursor protein (APP) by γ‐secretase, via an unknown mechanism. We recently…”
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Increased localization of APP‐C99 in mitochondria‐associated ER membranes causes mitochondrial dysfunction in Alzheimer disease 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

“…In the amyloidogenic pathway associated with Alzheimer disease (AD), the amyloid precursor protein (APP) is cleaved by β‐secretase to generate a 99‐aa…”
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ApoE4 upregulates the activity of mitochondria-associated ER membranes by Tambini, Marc D, Pera, Marta, Kanter, Ellen, Yang, Hua, Guardia-Laguarta, Cristina, Holtzman, David, Sulzer, David, Area-Gomez, Estela, Schon, Eric A

“…In addition to the appearance of senile plaques and neurofibrillary tangles, Alzheimer's disease (AD) is characterized by aberrant lipid metabolism and early…”
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kinase domain of mitochondrial PINK1 faces the cytoplasm by Zhou, Chun, Huang, Yong, Shao, Yufang, May, Jessica, Prou, Delphine, Perier, Celine, Dauer, William, Schon, Eric A, Przedborski, Serge

“…Mutations in PTEN-induced putative kinase 1 (PINK1) are a cause of autosomal recessive familial Parkinson's disease (PD). Efforts in deducing the PINK1…”
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Mitochondrial abnormalities in temporal lobe of autistic brain by Tang, Guomei, Gutierrez Rios, Puri, Kuo, Sheng-Han, Akman, Hasan Orhan, Rosoklija, Gorazd, Tanji, Kurenai, Dwork, Andrew, Schon, Eric A, DiMauro, Salvatore, Goldman, James, Sulzer, David

“…Abstract Autism spectrum disorder (ASD) consists of a group of complex developmental disabilities characterized by impaired social interactions, deficits in…”
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Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability 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

“…Functional variability among human clones of induced pluripotent stem cells (hiPSCs) remains a limitation in assembling high‐quality biorepositories. Beyond…”
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Mitochondrial Genetics and Disease by Area-Gomez, Estela, Schon, Eric A.

“…Mitochondrial disease resulting in reduced bioenergetic output can be due to mutations in either nuclear DNA–encoded or mitochondrial DNA–encoded gene…”
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Is Alzheimer's disease a disorder of mitochondria-associated membranes? by Schon, Eric A, Area-Gomez, Estela

“…The subcellular localization of presenilin-1 (PS1) and presenilin-2 (PS2), two proteins that, when mutated, cause familial Alzheimer's disease (AD), is…”
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Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease by Morcillo, Patricia, Kabra, Khushbu, Velasco, Kevin, Cordero, Hector, Jennings, Sarah, Yun, Taekyung D., Larrea, Delfina, Akman, H. Orhan, Schon, Eric A.

“…Genetic mutations causing primary mitochondrial disease (i.e those compromising oxidative phosphorylation [OxPhos]) resulting in reduced bioenergetic output…”
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Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation by Gilkerson, Robert W, Schon, Eric A, Hernandez, Evelyn, Davidson, Mercy M

“…Mitochondrial DNA (mtDNA) is packaged into DNA-protein assemblies called nucleoids, but the mode of mtDNA propagation via the nucleoid remains controversial…”
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The many clinical faces of cytochrome c oxidase deficiency by DiMauro, Salvatore, Tanji, Kurenai, Schon, Eric A

“…Cytochrome c oxidase (COX) catalyzes the last step in respiration, transferring electrons from cytochrome c to molecular oxygen and coupling electron transfer…”
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Human mitochondrial DNA: roles of inherited and somatic mutations by Schon, Eric A., DiMauro, Salvatore, Hirano, Michio

“…Key Points Mitochondrial diseases are among the most common genetic disorders. They can result from mutations in the mitochondrial genome or nuclear genome…”
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Approaches to the treatment of mitochondrial diseases by DiMauro, Salvatore, Hirano, Michio, Schon, Eric A.

“…Therapy for mitochondrial diseases is woefully inadequate. However, lack of a cure does not equate with lack of treatment. Palliative therapy is dictated by…”
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Novel subcellular localization for α-synuclein: possible functional consequences by Guardia-Laguarta, Cristina, Area-Gomez, Estela, Schon, Eric A, Przedborski, Serge

“…α-synuclein (α-syn) is one of the genes that when mutated or overexpressed causes Parkinson's Disease (PD). Initially, it was described as a synaptic terminal…”
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