Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Valeriy Levandovskiy"'
Autor:
Evdokia Anagnostou, Alvin Loh, Andreas Schulze, Stephen W. Scherer, Wendy Roberts, Valeriy Levandovskiy, Jessie M. Cameron
Publikováno v:
International Journal of Molecular Sciences, Vol 18, Iss 8, p 1665 (2017)
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 18; Issue 8; Pages: 1665
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 18; Issue 8; Pages: 1665
Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::558edd5ce358452f6ede9a036735c0d6
https://www.mdpi.com/1422-0067/18/8/1665
https://www.mdpi.com/1422-0067/18/8/1665
Autor:
Komudi Siriwardena, Brian H. Robinson, Andreas Schulze, Paul F. Kantor, Jessie M. Cameron, Susan Blaser, Cameron Ackerley, Julian Raiman, Nevena MacKay, Valeriy Levandovskiy
Publikováno v:
Molecular Genetics and Metabolism. 108:40-50
We report on two families with Sengers syndrome and mutations in the acylglycerol kinase gene ( AGK ). In the first family, two brothers presented with vascular strokes, lactic acidosis, cardiomyopathy and cataracts, abnormal muscle cell histopatholo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::361ba24e74daee8918eb5f7030349879
https://doi.org/10.1016/j.ymgme.2012.11.282
https://doi.org/10.1016/j.ymgme.2012.11.282
Autor:
Julian Raiman, Valeriy Levandovskiy, William Halliday, Jessie M. Cameron, Cameron Ackerley, Andreas Schulze, David Chitayat, Brian H. Robinson, Nevena MacKay
Publikováno v:
Mitochondrion. 11:191-199
Mutations in the TMEM70 gene are responsible for a familial form of complex V deficiency presenting with 3-methylglutaconic aciduria, lactic acidosis, cardiomyopathy and mitochondrial myopathy. Here we present a case of TMEM70 deficiency due to compo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eabb600b9db8eff7c3c2a434ea36bfa4
https://doi.org/10.1016/j.mito.2010.09.008
https://doi.org/10.1016/j.mito.2010.09.008
Autor:
Nevena MacKay, Brian H. Robinson, Julian Raiman, Cameron Ackerley, William Halliday, David Chiasson, Valeriy Levandovskiy, Jessie M. Cameron, Rucha Utgikar
Publikováno v:
Molecular Genetics and Metabolism. 98:378-382
We report here the identification of a patient with muscle-specific glycogen synthase deficiency. The 8-year-old patient showed no prior signs of distress before collapsing during a bout of exercise, resulting in death. Initial post-mortem analysis o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::425fbae1a9434ccb57f0bf094e8c11e1
https://doi.org/10.1016/j.ymgme.2009.07.012
https://doi.org/10.1016/j.ymgme.2009.07.012
Autor:
Jisoo Lee, Jessie M. Cameron, Cameron Ackerley, Nevena MacKay, Mary C. Maj, Jane B. L. Addis, Fenghao Xu, Brian H. Robinson, Valeriy Levandovskiy
Publikováno v:
Biochemical Journal. 416:15-26
Mice homozygous for a defect in the PTCD2 (pentatricopeptide repeat domain protein 2) gene were generated in order to study the role of this protein in mitochondrial RNA metabolism. These mice displayed specific but variable reduction of ubiquinol–
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4592bd86b6798737c558f75cbd16d63b
https://doi.org/10.1042/bj20080847
https://doi.org/10.1042/bj20080847
Autor:
Jessie M. Cameron, Matthias R. Baumgartner, E. Regula Baumgartner, Neviana MacKay, Valeriy Levandovskiy, Brian H. Robinson, Jane B. L. Addis, Mary C. Maj
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 90:4101-4107
Context: Pyruvate dehydrogenase phosphatase (PDP) deficiency has been previously reported as an enzymopathy, but the genetic basis for such a defect has never been established. Objective: The aim of this study was to identify the cause of the defect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1beb473e6e294659088dbd398f28b55
https://doi.org/10.1210/jc.2005-0123
https://doi.org/10.1210/jc.2005-0123
Publikováno v:
American Journal of Medical Genetics. :59-66
Pyruvate dehydrogenase (PDH)-complex deficiency (OMIM 312170) is a clinically heterogeneous disorder, with phenotypes ranging from fatal lactic acidosis (LA) in the newborn to chronic neurological dysfunction. To date, over 80 different mutations hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e9e2e082e31cfe98671f82903f8287f
https://doi.org/10.1002/ajmg.a.30287
https://doi.org/10.1002/ajmg.a.30287
Publikováno v:
Mitochondrion. 4:387-394
NADH:ubiquinone dehydrogenase (complex I) deficiency can be diagnosed from cultured skin fibroblasts using a number of methods, the most commonly used is a linked assay of rotenone-sensitive complex I+III activity (NADH:cytochrome c reductase). Becau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::771a75492ba2ff5eafa6f154fcfe0a5a
https://doi.org/10.1016/j.mito.2004.07.039
https://doi.org/10.1016/j.mito.2004.07.039
Autor:
Néstor A. Chamoles, Adolfo Guinle, Marta Fusta, Valeriy Levandovskiy, Cristina Bernard, L. I. A. Jorge, Silvana Lavorgna, Jose E. Abdenur, Andrea Schenone
Publikováno v:
Pediatric Research. 50:61-66
The treatment of multiple acyl-CoA-dehydrogenase deficiency (MADD) includes a low-fat, low-protein, high-carbohydrate diet, avoiding long fasting periods. However, there is no useful biochemical marker to determine the response to different diets or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cc11daf442dd78e5fc5e22bbaabe199
https://doi.org/10.1203/00006450-200107000-00013
https://doi.org/10.1203/00006450-200107000-00013
Autor:
Angie Sin, Laurel L. Ballantyne, Colin D. Funk, Crystal M. McCracken, Andreas Schulze, Valeriy Levandovskiy, Kamalika Mukherjee, Tim St. Amand
Publikováno v:
The FASEB Journal. 27
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99c9d1b2f4d861a8e27431767e220ae5
https://doi.org/10.1096/fasebj.27.1_supplement.1009.3
https://doi.org/10.1096/fasebj.27.1_supplement.1009.3