Zobrazeno 1 - 10
of 2 014
pro vyhledávání: '"x-linked adrenoleukodystrophy"'
Publikováno v:
Heliyon, Vol 10, Iss 15, Pp e35705- (2024)
X-linked adrenoleukodystrophy (X-ALD) caused by ATP-binding cassette subfamily D member 1 (ABCD1) gene defects is the most common inherited peroxisomal disorder.The female cerebello-brainstem dominant type in which cerebellum and brainstem are mainly
Externí odkaz:
https://doaj.org/article/7dd5b663f1614a2a98456930bed7a43f
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:
Xiaoli Ye, Yuanyuan Li, Domingo González-Lamuño, Zhengtong Pei, Ann B. Moser, Kirby D. Smith, Paul A. Watkins
Publikováno v:
Cells, Vol 13, Iss 20, p 1687 (2024)
“Bubblegum” acyl-CoA synthetase (ACSBG1) is a pivotal player in lipid metabolism during mouse brain development, facilitating the activation of long-chain fatty acids (LCFA) and their incorporation into lipid species that are crucial for brain fu
Externí odkaz:
https://doaj.org/article/af92b82d09844b3baa4523893b94d89f
Publikováno v:
Heliyon, Vol 10, Iss 7, Pp e28987- (2024)
X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder caused by pathogenic variants in the ABCD1 gene. The symptoms include primary adrenal insufficiency (PAI), progressive spinal cord disease, inflammatory demyelinating cerebral disease,
Externí odkaz:
https://doaj.org/article/58213a6086c84e2d812b116e6294ba36
Autor:
Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/3fe63f5679824882a78a685fa671eea6
Autor:
Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders, Alberto Burlina
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Zellweger spectrum disorders (ZSD) and X-linked adrenoleukodystrophy (X-ALD) are inherited metabolic diseases characterized by dysfunction of peroxisomes, that are essential for lipid metabolism and redox balance. Oxidative stress
Externí odkaz:
https://doaj.org/article/c58590f104974169867af1cbdb4fa339
Autor:
Zhixing Zhu, Georgi Z. Genchev, Yanmin Wang, Wei Ji, Xiaofen Zhang, Hui Lu, Sira Sriswasdi, Guoli Tian
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)
Abstract Background The peroxisome is a ubiquitous single membrane-enclosed organelle with an important metabolic role. Peroxisomal disorders represent a class of medical conditions caused by deficiencies in peroxisome function and are segmented into
Externí odkaz:
https://doaj.org/article/07e1aa6dcf004addaffa4290fcf2b61f
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Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters sub-family D member 1 gene (ABCD1) producing adrenoleukodystrophy protein (ALDP). Ac
Externí odkaz:
https://doaj.org/article/ad1af5f6b7e1432791382669afe65135
Autor:
Bettina Zierfuss, Agnieszka Buda, Andrea Villoria-González, Maxime Logist, Jure Fabjan, Patricia Parzer, Claire Battin, Streggi Vandersteene, Inge M. E. Dijkstra, Petra Waidhofer-Söllner, Katharina Grabmeier-Pfistershammer, Peter Steinberger, Stephan Kemp, Sonja Forss-Petter, Johannes Berger, Isabelle Weinhofer
Publikováno v:
Journal of Neuroinflammation, Vol 19, Iss 1, Pp 1-20 (2022)
Abstract Saturated very long-chain fatty acids (VLCFA, ≥ C22), enriched in brain myelin and innate immune cells, accumulate in X-linked adrenoleukodystrophy (X-ALD) due to inherited dysfunction of the peroxisomal VLCFA transporter ABCD1. In its sev
Externí odkaz:
https://doaj.org/article/28432a9f70e04eb791392053b1e9a1b7