Zobrazeno 1 - 10
of 4 416
pro vyhledávání: '"VLCAD"'
Autor:
Prapti Singh, Deirdre Amaro, Olugbemisola Obi, FNU Kiran, Erin Hediger, Tomi L. Toler, Patricia I. Dickson, Dorothy K. Grange
Publikováno v:
JIMD Reports, Vol 64, Iss 4, Pp 261-264 (2023)
Abstract Very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive long chain fatty acid β‐oxidation disorder with a variable clinical spectrum, ranging from an acute neonatal presentation with cardiac and hepatic failu
Externí odkaz:
https://doaj.org/article/23da19b87eb94c969d0a5c4bc66534c3
Akademický článek
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Autor:
D'Annibale, Olivia M.1,2 (AUTHOR), Phua, Yu Leng1 (AUTHOR), Van't Land, Clinton1 (AUTHOR), Karunanidhi, Anuradha1 (AUTHOR), Dorenbaum, Alejandro3 (AUTHOR), Mohsen, Al-Walid1,2 (AUTHOR), Vockley, Jerry1,2,4 (AUTHOR) gerard.vockley@chp.edu
Publikováno v:
Cells (2073-4409). Sep2022, Vol. 11 Issue 17, p2635. 18p.
Autor:
Nicole McPhillips, Amy Calhoun, Emily Phillips, Jaclyn Kotlarek, Jacob Ginter, Georgianne Younger
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100918- (2024)
Externí odkaz:
https://doaj.org/article/6a07609e8770490c9aea3d1bcba46233
Autor:
Maria Al Bandari, Laura Nagy, Vivian Cruz, Stacy Hewson, Alomgir Hossain, Michal Inbar-Feigenberg
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 2, p 29 (2024)
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare genetic condition affecting the mitochondrial beta-oxidation of long-chain fatty acids. This study reports on the clinical outcomes of patients diagnosed by newborn screening with VL
Externí odkaz:
https://doaj.org/article/1a262141ea4b4bc3a477e5045742b25c
Autor:
Lund, Martin, Andersen, Kathrine G., Heaton, Robert, Hargreaves, Iain P., Gregersen, Niels, Olsen, Rikke K.J.
Publikováno v:
In BBA - Molecular Basis of Disease 1 June 2021 1867(6)
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Knottnerus, Suzan J.G., Pras-Raves, Mia L., van der Ham, Maria, Ferdinandusse, Sacha, Houtkooper, Riekelt H., Schielen, Peter C.J.I., Visser, Gepke, Wijburg, Frits A., de Sain-van der Velden, Monique G.M.
Publikováno v:
In BBA - Molecular Basis of Disease 1 June 2020 1866(6)
Autor:
Olivia M. D’Annibale, Yu Leng Phua, Clinton Van’t Land, Anuradha Karunanidhi, Alejandro Dorenbaum, Al-Walid Mohsen, Jerry Vockley
Publikováno v:
Cells, Vol 11, Iss 17, p 2635 (2022)
Background: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive disease that prevents the body from utilizing long-chain fatty acids for energy, most needed during stress and fasting. Symptoms can appear from infancy t
Externí odkaz:
https://doaj.org/article/7cdeef019e9f44d2ab85e37c8a9049b3
Autor:
Michelle S. Prew, Christina M. Camara, Thomas Botzanowski, Jamie A. Moroco, Noah B. Bloch, Hannah R. Levy, Hyuk-Soo Seo, Sirano Dhe-Paganon, Gregory H. Bird, Henry D. Herce, Micah A. Gygi, Silvia Escudero, Thomas E. Wales, John R. Engen, Loren D. Walensky
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Prew et al. uncovered a structural basis for human VLCAD deficiency that arises from point mutations within the enzyme’s membrane-binding region, which was shown to fold as a putative α-helical hairpin. Helix-breaking mutations selectively disrupt
Externí odkaz:
https://doaj.org/article/e862c131a10741b096477d28809d47d0