Albert S. Jun
Emory University
7 Papers
Albert S. Jun is an academic researcher from Emory University. The author has contributed to research in topics: Mitochondrion & Mitochondrial DNA. The author has an hindex of 7, co-authored 7 publications.
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Papers
Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines.
TL;DR: The approach to OX-PHOS investigation combines the identification of patients with OX -PHOS defects using more sensitive muscle biopsy studies followed by further biochemical characterization of primary defects in Epstein–Barr virus-transformed lymphoblasts.
772
Mitochondrial disease in superoxide dismutase 2 mutant mice
Simon Melov,Pinar Coskun,Manisha Patel,Robbyn L. Tuinstra,Barbara A. Cottrell,Albert S. Jun,Tomsz H. Zastawny,Miral Dizdaroglu,Stephen I. Goodman,Ting-Ting Huang,Henry M. Miziorko,Charles J. Epstein,Douglas C. Wallace +12 more
TL;DR: Results indicate that the increase in mitochondrial reactive oxygen species can result in biochemical aberrations with features reminiscent of mitochondrial myopathy, Friedreich ataxia, and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
610
A mitochondrial dna mutation at nucleotide pair 14459 of the nadh dehydrogenase subunit 6 gene associated with maternally inherited leber hereditary optic neuropathy and dystonia
TL;DR: A five-generation Hispanic family expressing maternally transmitted Leber hereditary optic neuropathy and/or early-onset dystonia associated with bilateral basal ganglia lesions was studied, and a unique mtDNA variant in Native American haplogroup D was found, suggesting that it is the disease-causing mutation.
314
Use of Transmitochondrial Cybrids To Assign a Complex I Defect to the Mitochondrial DNA-Encoded NADH Dehydrogenase Subunit 6 Gene Mutation at Nucleotide Pair 14459 That Causes Leber Hereditary Optic Neuropathy and Dystonia
TL;DR: Observations suggest that the ND6 np 14459 mutation may alter the coenzyme Q-binding site of complex I, which is the cause of Leber hereditary optic neuropathy and/or pediatric-onset dystonia in three unrelated families.
Mitochondrial DNA mutations in human degenerative diseases and aging
Douglas C. Wallace,John M. Shoffner,Ian A. Trounce,Michael D. Brown,Scott W. Ballinger,Marisol Corral-Debrinski,Terzah M. Horton,Albert S. Jun,Marie T. Lott +8 more
TL;DR: Novel features of mtDNA disease are proposed to be the product of the high dependence of the target organs on mitochondrial bioenergetics, and the cumulative oxidative phosphorylation (OXPHOS) defect caused by the inherited mtDNA mutation together with the age-related accumulation mtDNA mutations in post-mitotic tissues.