Zobrazeno 1 - 10
of 132
pro vyhledávání: '"Erland, Arning"'
Autor:
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H. C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-15 (2024)
Abstract Background Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children’s Hospital Intellectual and Developmental Disabilities Researc
Externí odkaz:
https://doaj.org/article/cb335a1bff7e48c685c43cab55795ad8
Autor:
Jin-Song Shen, Uthra Balaji, Kunitoshi Shigeyasu, Yoshinaga Okugawa, Siamak Jabbarzadeh-Tabrizi, Taniqua S. Day, Erland Arning, John Marshall, Seng H. Cheng, Jinghua Gu, Raphael Schiffmann, Teodoro Bottiglieri, Ajay Goel
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100919- (2022)
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and subsequent accumulation of glycosphingolipids with terminal α-D-galactosyl residues. The molecular process through which this abnormal metabolis
Externí odkaz:
https://doaj.org/article/1a8df2290a0e4d9c86cc9139ef242318
Autor:
Madalyn N. Brown, K. Michael Gibson, Michelle A. Schmidt, Dana C. Walters, Erland Arning, Teodoro Bottiglieri, Jean‐Baptiste Roullet
Publikováno v:
JIMD Reports, Vol 56, Iss 1, Pp 58-69 (2020)
Abstract Succinic semialdehyde dehydrogenase deficiency (SSADHD) manifests with low levels of glutamine in the brain, suggesting that central glutamine deficiency contributes to pathogenesis. Recently, we attempted to rescue the disease phenotype of
Externí odkaz:
https://doaj.org/article/38e2f1202dab41748cf08b6d80fe0655
Autor:
Trevor Kirby, Dana C. Walters, Xutong Shi, Coleman Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglieri, Melissa DiBacco, Phillip L. Pearl, Jean-Baptiste Roullet, K. Michael Gibson
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Previous work has identified age-related negative correlations for γ-hydroxybutyric acid (GHB) and γ-aminobutyric acid (GABA) in plasma of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD). Using plasma and d
Externí odkaz:
https://doaj.org/article/435f158ca9f4434a98b0aae66dfec9d1
Autor:
Sean X. Gu, Vijay K. Sonkar, Parmeshwar B. Katare, Rahul Kumar, Warren D. Kruger, Erland Arning, Teodoro Bottiglieri, Steven R. Lentz, Sanjana Dayal
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 4 (2020)
Background Hyperhomocysteinemia is a risk factor for ischemic stroke; however, a targeted treatment strategy is lacking partly because of limited understanding of the causal role of homocysteine in cerebrovascular pathogenesis. Methods and Results In
Externí odkaz:
https://doaj.org/article/26ddcb95391e44e090c9768cbcf5a432
Autor:
Ari Cedars, Cedric Manlhiot, Jong-Mi Ko, Teodoro Bottiglieri, Erland Arning, Angela Weingarten, Alexander Opotowsky, Shelby Kutty
Publikováno v:
Metabolites, Vol 11, Iss 8, p 525 (2021)
Metabolomic analysis may provide an integrated assessment in genetically and pathologically heterogeneous populations. We used metabolomic analysis to gain mechanistic insight into the small and diverse population of adults with congenital heart dise
Externí odkaz:
https://doaj.org/article/5bb7590f1efe4cf2a28ecca5e7bf3159
Autor:
Nafisa M. Jadavji, Hannah Mosnier, Erin Kelly, Kamaya Lawrence, Sarah Cruickshank, Sarah Stacey, Adelina McCall, Sandeep Dhatt, Erland Arning, Teodoro Bottiglieri, Patrice D. Smith
Publikováno v:
Neurobiology of Disease, Vol 132, Iss , Pp - (2019)
The prevalence of stroke increases with age and the ability to absorb all nutrients from our diets decreases with age. Nutrition is a modifiable risk factor for stroke, which is a leading cause of death and disability in world-wide. Deficiencies in o
Externí odkaz:
https://doaj.org/article/0401e5a5fecc4fed9684dab2ead78066
Autor:
Itay Tokatly Latzer, Mariarita Bertoldi, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Paul MacMullin, Daniyal Sachee, Alexander Rotenberg, Henry H. C. Lee, Deniz Aygun, Thomas Opladen, Kathrin Jeltsch, Àngels García‐Cazorla, Jean‐Baptiste Roullet, K. Michael Gibson, Phillip L. Pearl
Publikováno v:
Epilepsia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9902a91d0d15ebb112beb8eb52c1e945
https://doi.org/10.1111/epi.17592
https://doi.org/10.1111/epi.17592
Autor:
Jian-Min Yuan, Yu-Tang Gao, Sugantha Govindarajan, Teodoro Bottiglieri, Renwei Wang, Erland Arning, Lesley M. Butler
Background: Rats fed diets deficient in choline develop hepatocellular carcinoma. Tumor DNA from these animals is characteristically hypomethylated, suggesting that disruption of the one-carbon metabolism pathway is an underlying mechanism for hepato
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba46d28ae286e4f9e1d9ad104ee60e1
https://doi.org/10.1158/1055-9965.c.6515670
https://doi.org/10.1158/1055-9965.c.6515670
Autor:
Jian-Min Yuan, Yu-Tang Gao, Sugantha Govindarajan, Teodoro Bottiglieri, Renwei Wang, Erland Arning, Lesley M. Butler
PDF file, 96K, Table S1. Mass transitions and method statistics for the determination of serum one-carbon metabolites Table S2. Linear regression ratio of prediagnostic serum levels of one-carbon metabolites in relation to baseline characteristics an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026cd62811b31632be84c4dea692474e
https://doi.org/10.1158/1055-9965.22437006
https://doi.org/10.1158/1055-9965.22437006