Zobrazeno 1 - 10
of 1 273
pro vyhledávání: '"very long-chain fatty acids"'
Autor:
Bita Barazandeh Shirvan, Najmeh Ahangari, Razie Rezaie, Parvaneh Layegh, Ehsan Ghayoor Karimiani, Narges Hashemi, Mehran Beiraghi Toosi
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-5 (2024)
Abstract Background Zellweger spectrum disorders (ZSDs) are a group of peroxisome biogenesis disorders (PBDs) with different variants in the PEX genes. The main biochemical marker for screening peroxisomal disorders is very long-chain fatty acids (VL
Externí odkaz:
https://doaj.org/article/a0c587b79d8e4370b06c8a859c922065
Autor:
Xinxin Zuo, Zeyu Chen
Publikováno v:
Lipids in Health and Disease, Vol 23, Iss 1, Pp 1-11 (2024)
Abstract X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder caused by ABCD1 mutations, resulting in the buildup of very-long-chain fatty acids, leading to significant neurological decline and adrenal insufficiency. Despite advancement
Externí odkaz:
https://doaj.org/article/d426e0bad892454db8a1a4d32a77959a
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-22 (2024)
Abstract To reveal the molecular function of elongation family of very long chain fatty acids(ELO) protein in Cyrtotrachelus buqueti, we have identified 15 ELO proteins from C.buqueti genome. 15 CbuELO proteins were located on four chromosomes. Their
Externí odkaz:
https://doaj.org/article/c28f46cfcec8409399336b7797f2d708
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 42, Iss , Pp 101178- (2025)
Very-long-chain fatty acids (VLCFAs) are commonly used to diagnose peroxisomal disorders, but elevated levels may also result from other non-peroxisomal causes, leading to diagnostic challenges. We report the case of a 2-year-old girl presenting with
Externí odkaz:
https://doaj.org/article/802c08e7bfcf4d669f6005abf290a283
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)
Abstract Background X‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder attributed to ABCD1 mutations. Case reports with predominant brainstem involvement are rare. Case Presentation In this study, we reported a plateau
Externí odkaz:
https://doaj.org/article/f4076f4235c842edb13396be294fbc81
Autor:
Liza Esther Alexander, Dirk Winkelman, Kenna E. Stenback, Madison Lane, Katelyn R. Campbell, Elysse Trost, Kayla Flyckt, Michael A. Schelling, Ludmila Rizhsky, Marna D. Yandeau-Nelson, Basil J. Nikolau
Publikováno v:
Frontiers in Plant Science, Vol 15 (2024)
The maize glossy2 and glossy2-like genes are homologs, which encode proteins that belong to the BAHD family of acyltransferases. In planta genetic studies have demonstrated that these genes may be involved in the elongation of very long chain fatty a
Externí odkaz:
https://doaj.org/article/f48e07af30ab42659aa1388ebf5cb960
Autor:
Vasireddy, Vidyullatha 1, 11, Maguire, Casey A. 2, 3, Anderson, David W. 1, 11, Ng, Carrie 2, 3, Gong, Yi 2, 3, Eichler, Florian 2, 3, Fourcade, Stéphane 4, 5, Guilera, Cristina 4, 5, Onieva, Andrea 6, 7, Sanchez, Angela 6, 7, Leal-Julià, Marc 6, 7, Verdés, Sergi 6, 7, Dijkstra, Inge M.E. 9, Kemp, Stephan 9, Park, HongGeun 1, 12, Lutz, Tiffany 1, 13, Clark, Sean W. 1, 14, Bosch, Assumpció 6, 7, 8, Pujol, Aurora 4, 5, 10, Kozarsky, Karen 1, 15, ∗
Publikováno v:
In Molecular Therapy - Methods & Clinical Development 12 December 2024 32(4)
Autor:
Derryl Miller, MD, Laurence Walsh, MD, Lisa Smith, MD, Nucharin Supakul, MD, Chang Ho, MD, Toshihiro Onishi, MD
Publikováno v:
Radiology Case Reports, Vol 19, Iss 1, Pp 493-498 (2024)
We present a boy with X-linked adrenoleukodystrophy (X-ALD) who was found to have lumbar nerve root enhancement on a screening MRI of the spine. The MRI was performed for lower extremity predominant symptoms. Several weeks after this MRI, he develope
Externí odkaz:
https://doaj.org/article/e5bff1f98f3f4706bc41249d0940a804
Autor:
Chinmoy Sarkar, Marta M. Lipinski
Publikováno v:
Cells, Vol 13, Iss 19, p 1655 (2024)
Peroxisomes are organelles involved in many cellular metabolic functions, including the degradation of very-long-chain fatty acids (VLCFAs; C ≥ 22), the initiation of ether-phospholipid synthesis, and the metabolism of reactive oxygen species. All
Externí odkaz:
https://doaj.org/article/409727aedcac41d0b3b2c66805fb4f1a
Autor:
Yorrick R.J. Jaspers, Sven W. Meyer, Mia L. Pras-Raves, Inge M.E. Dijkstra, Eric J.M. Wever, Adrie D. Dane, Jan-Bert van Klinken, Gajja S. Salomons, Riekelt H. Houtkooper, Marc Engelen, Stephan Kemp, Michel Van Weeghel, Frédéric M. Vaz
Publikováno v:
Journal of Lipid Research, Vol 65, Iss 6, Pp 100567- (2024)
Lipids play pivotal roles in an extensive range of metabolic and physiological processes. In recent years, the convergence of trapped ion mobility spectrometry and MS has enabled 4D-lipidomics, a highly promising technology for comprehensive lipid an
Externí odkaz:
https://doaj.org/article/deec6247e3684b2caada44c6c89b50f6