Zobrazeno 1 - 10
of 132
pro vyhledávání: '"Charles R Roe"'
Autor:
Min Jung Park, Susan Aja, Qun Li, Alicia L Degano, Judith Penati, Justin Zhuo, Charles R Roe, Gabriele V Ronnett
Publikováno v:
PLoS ONE, Vol 9, Iss 10, p e109527 (2014)
Rett syndrome (RTT) is an autism spectrum disorder (ASD) caused by mutations in the X-linked MECP2 gene that encodes methyl-CpG binding protein 2 (MeCP2). Symptoms range in severity and include psychomotor disabilities, seizures, ataxia, and intellec
Externí odkaz:
https://doaj.org/article/892c6d1a265a443aa873bd1712bfba01
Autor:
Ignacio Málaga, Adrian Avila, Sharon Primeaux, Raja Reddy Kallem, Charles R. Roe, William C. Putnam, Jason Y. Park, Shlomo Shinnar, Chul Ahn, Juan M. Pascual
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Augmentation of anaplerosis, or replenishment of carbon lost during intermediary metabolic transitions, is desirable in energy metabolism defects. Triheptanoin, the triglyceride of 7-carbon heptanoic acid, is anaplerotic via direct oxidation
Externí odkaz:
https://doaj.org/article/0eda3791dde24b34a03d79eca26f7f88
Autor:
Nanda M. Verhoeven, Diane S. Roe, Robert M. Kok, Ronald J.A. Wanders, Cornelis Jakobs, Charles R. Roe
Publikováno v:
Journal of Lipid Research, Vol 39, Iss 1, Pp 66-74 (1998)
The relationship between peroxisomal and mitochondrial oxidation of the methyl branched fatty acids, phytanic acid and pristanic acid, was studied in normal and mutant human skin fibroblasts with established enzyme deficiencies. Tandem mass spectrome
Externí odkaz:
https://doaj.org/article/88dfa0688a564a9b94d9b2139442c6b3
Publikováno v:
Molecular Genetics and Metabolism. 101:9-17
Pyruvate carboxylase (PC) is a regulated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a critical transition that replenishes citric acid cycle intermediates and facilitates other biosynthetic reactions that drive an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2288c0e76b102c13e6cd56898a76028b
https://doi.org/10.1016/j.ymgme.2010.05.004
https://doi.org/10.1016/j.ymgme.2010.05.004
Publikováno v:
American Journal of Veterinary Research. 71:326-336
Objective—To evaluate effects of fats with odd and even numbers of carbon atoms on muscle metabolism in exercising horses with polysaccharide storage myopathy (PSSM). Animals—8 horses with PSSM (6 females and 2 males; mean ± SD age, 6.3 ± 3.9 y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7214462e444207fef69823a2509533a8
https://doi.org/10.2460/ajvr.71.3.326
https://doi.org/10.2460/ajvr.71.3.326
Autor:
Lei Gu, Gerd Kutz, Guo-Fang Zhang, Rajan S. Kombu, Frederick Allen, Henri Brunengraber, Charles R. Roe, Wolf Ulrich Brewer
Publikováno v:
American Journal of Physiology-Endocrinology and Metabolism. 298:E362-E371
The anaplerotic odd-medium-chain triglyceride triheptanoin is used in clinical trials for the chronic dietary treatment of patients with long-chain fatty acid oxidation disorders. We previously showed (Kinman RP, Kasumov T, Jobbins KA, Thomas KR, Ada
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76f6abb3c59b7b4c706ae51b4b26230f
https://doi.org/10.1152/ajpendo.00384.2009
https://doi.org/10.1152/ajpendo.00384.2009
Autor:
Stephanie J. Valberg, Joe D. Pagan, Molly E. McCue, Charles R. Roe, Birgitta Essén-Gustavsson
Publikováno v:
American Journal of Veterinary Research. 70:1043-1052
Objective—To compare effects of corn oil or a 7-carbon fat (triheptanoin) on acylcarnitine, lipid, and carbohydrate metabolism in plasma or muscle of exercising horses. Animals—8 Thoroughbred geldings. Procedures—Horses received isocaloric diet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86bb798bcb52063043b82a4a41e368de
https://doi.org/10.2460/ajvr.70.8.1043
https://doi.org/10.2460/ajvr.70.8.1043
Autor:
Mary Wallace, Brenda Garritson, Henri Brunengraber, Diane S. Roe, Bing-Zhi Yang, Charles R. Roe
Publikováno v:
Neurology. 71:260-264
Background: Carnitine palmitoyltransferase II (CPT II) deficiency is an important cause of recurrent rhabdomyolysis in children and adults. Current treatment includes dietary fat restriction, with increased carbohydrate intake and exercise restrictio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e0d8029e9510a849d29ba28618260ad
https://doi.org/10.1212/01.wnl.0000318283.42961.e9
https://doi.org/10.1212/01.wnl.0000318283.42961.e9
Autor:
Dorit Lev, Alexander Lossos, Jerry Vockley, Tally Lerman-Sagie, Esther Leshinsky-Silver, Charles R. Roe, Stanley H. Korman, Anne Marie Lamhonwah, Ingrid Tein, Dietrich Matern, Niels Gregersen, Bruria Ben-Zeev, Orly Elpeleg, Gerard T. Berry
Publikováno v:
Molecular Genetics and Metabolism. 93:179-189
We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in the short-chain acyl-CoA dehydrogenase (SCAD) gene (ACADS). All were of Ashkenazi Jewish o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::034fcb4a47d1bcdf6187fa2c1e174a98
https://doi.org/10.1016/j.ymgme.2007.09.021
https://doi.org/10.1016/j.ymgme.2007.09.021
Autor:
Charles R. Roe, Henri Brunengraber
Publikováno v:
Molecular genetics and metabolism. 116(4)
Background The treatment of long-chain mitochondrial β-oxidation disorders (LC-FOD) with a low fat-high carbohydrate diet, a diet rich in medium-even-chain triglycerides (MCT), or a combination of both has been associated with high morbidity and mor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be63caa261b7e84ff35ba6cf24e84abb
https://pubmed.ncbi.nlm.nih.gov/26547562
https://pubmed.ncbi.nlm.nih.gov/26547562