Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Deborah A. Koontz"'
Autor:
Deborah A. Koontz, John M. Shoffner, Douglas C. Wallace, Allan Kaufman, Suzanne S. P. Gebhart
Publikováno v:
Metabolism. 45:526-531
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes associated with mutation of mitochondrial DNA (mtDNA) that occurs in 1% to 2% of individuals with diabetes. Understanding the clinical course and abnormalities in insulin secreti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96d0dd78fedbcccd23d8ce59b133e4cb
https://doi.org/10.1016/s0026-0495(96)90231-0
https://doi.org/10.1016/s0026-0495(96)90231-0
Autor:
Deborah A. Koontz, Richard H. Haas, John M. Shoffner, John Dixon, Albert S. June, Edwin R. Smith, Carol Stugard, Michael D. Brown, Yoon L. Kim, Stephen C. Pollock, Douglas C. Wallace, Jennifer R. Graham, Allan Kaufman
Publikováno v:
Annals of Neurology. 38:163-169
A novel point mutation in the ND6 subunit of complex I at position 14,459 of the mitochondrial DNA (MTND6*LDY T14459A) was identified as a candidate mutation for the highly tissue-specific disease. Leber's hereditary optic neuropathy plus dystonia. S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d72af91739b1cb081a1b42465c7d82
https://doi.org/10.1002/ana.410380207
https://doi.org/10.1002/ana.410380207
Autor:
Deborah A. Koontz, Jung H. Choi
Publikováno v:
Physiologia Plantarum. 87:576-583
Two-dimensional gels of phosphoproteins from carrot (Daucus carota L. var. Juwarot) suspension cells labeled in vivo or in vitro revealed phosphoproteins that comigrate with carrot tubulin. A polyclonal antiserum to hibiscus tubulin immunoprecipitate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd9e86d94362e9f194a4ff2f03295b29
https://doi.org/10.1111/j.1399-3054.1993.tb02509.x
https://doi.org/10.1111/j.1399-3054.1993.tb02509.x
Autor:
John M. Shoffner, Ian A. Trounce, Deborah A. Koontz, Ellis V. Hedaya, Scott W. Ballinger, Douglas C. Wallace, Meraida Polak
Publikováno v:
Nature Genetics. 1:11-15
Diabetes mellitus (DM) is one of the most common chronic disorders of children and adults. Several reports have suggested an increased incidence of maternal transmission in some forms of DM. Therefore, we tested a pedigree with maternally transmitted
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7095bfef0ec9f0c99d4d0a7c740f1c73
https://doi.org/10.1038/ng0492-11
https://doi.org/10.1038/ng0492-11
Publikováno v:
Nature genetics. 7(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30d227914a55fe459e352f58d2aa8716
https://pubmed.ncbi.nlm.nih.gov/7951312
https://pubmed.ncbi.nlm.nih.gov/7951312
Autor:
Deborah A. Koontz, Douglas C. Wallace, John M. Shoffner, Allan Kaufman, Rafael G. Ortiz, Nancy J. Newman
Publikováno v:
Archives of ophthalmology (Chicago, Ill. : 1960). 111(11)
Objective: Ophthalmologic and neurologic manifestations of the mitochondrial DNA mutation at position 8993 ( MTATP*NARP8993 ) are reported and compared with previously published reports of patients with the 8993 mutation and other mitochondrial disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1980d0efbfe3ef86de25b2753f0440c
https://pubmed.ncbi.nlm.nih.gov/8240109
https://pubmed.ncbi.nlm.nih.gov/8240109
Autor:
M F Beal, Deborah A. Koontz, John M. Shoffner, Douglas C. Wallace, Usha MacGarvey, Allan Kaufman, Patrizia Mecocci
Publikováno v:
Annals of neurology. 34(4)
A major theory of aging is that oxidative damage may accumulate in DNA and contribute to physiological changes associated with aging. We examined age-related accumulation of oxidative damage to both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56a4d80b6d5a279efb4fc1c67842396
https://pubmed.ncbi.nlm.nih.gov/8215249
https://pubmed.ncbi.nlm.nih.gov/8215249
Autor:
P. M. Fernhoff, Nicolas Krawiecki, P. J. Holt, Douglas C. Wallace, M. T. Lott, Scott W. Ballinger, Meraida Polak, Y. Takei, Deborah A. Koontz, Rafael G. Ortiz, Nancy J. Newman, D. B. Caplan, John M. Shoffner
Publikováno v:
Neurology. 42:2168-2168
Subacute necrotizing encephalopathy (SNE) or Leigh's disease is associated with various defects in oxidative phosphorylation (OXPHOS). However, the relationships between these OXPHOS defects and nuclear DNA or mitochondrial DNA (mtDNA) mutations is s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d0f9e73ae4f7d53d405c92672aa270e
https://doi.org/10.1212/wnl.42.11.2168
https://doi.org/10.1212/wnl.42.11.2168