Zobrazeno 1 - 10
of 289
pro vyhledávání: '"X-ALD"'
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
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:
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
Autor:
Isabelle Weinhofer, Paulus Rommer, Andreas Gleiss, Markus Ponleitner, Bettina Zierfuss, Petra Waidhofer-Söllner, Stéphane Fourcade, Katharina Grabmeier-Pfistershammer, Marie-Christine Reinert, Jens Göpfert, Anne Heine, Hemmo A.F. Yska, Carlos Casasnovas, Verónica Cantarín, Caroline G. Bergner, Eric Mallack, Sonja Forss-Petter, Patrick Aubourg, Annette Bley, Marc Engelen, Florian Eichler, Troy C. Lund, Aurora Pujol, Wolfgang Köhler, Jörn-Sven Kühl, Johannes Berger
Publikováno v:
EBioMedicine, Vol 96, Iss , Pp 104781- (2023)
Summary: Background: X-linked adrenoleukodystrophy (X-ALD) is highly variable, ranging from slowly progressive adrenomyeloneuropathy to severe brain demyelination and inflammation (cerebral ALD, CALD) affecting males with childhood peak onset. Risk m
Externí odkaz:
https://doaj.org/article/275297f07de64a75ad4b82604a75b650
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 13 (2023)
IntroductionX-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in the ABCD1 gene. The main phenotypes observed in men with X-ALD are primary adrenal insufficiency, adrenomyeloneuropathy, and cer
Externí odkaz:
https://doaj.org/article/8ddb7b61f9a94a7d98d8b68e6ba8ddab
Akademický článek
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Autor:
Quentin Raas, Ali Tawbeh, Mounia Tahri-Joutey, Catherine Gondcaille, Céline Keime, Romain Kaiser, Doriane Trompier, Boubker Nasser, Valerio Leoni, Emma Bellanger, Maud Boussand, Yannick Hamon, Alexandre Benani, Francesca Di Cara, Caroline Truntzer, Mustapha Cherkaoui-Malki, Pierre Andreoletti, Stéphane Savary
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Microglial cells ensure essential roles in brain homeostasis. In pathological condition, microglia adopt a common signature, called disease-associated microglial (DAM) signature, characterized by the loss of homeostatic genes and the induction of dis
Externí odkaz:
https://doaj.org/article/e61fd3afe1cd4f0d9a7144d4fea8bc3c
Publikováno v:
Brain and Behavior, Vol 13, Iss 3, Pp n/a-n/a (2023)
Abstract Background Up to 80% of women with X‐linked adrenoleukodystrophy (X‐ALD) develop symptoms of myelopathy and peripheral neuropathy during their lifetime. The study's objective was to compare symptomatic versus asymptomatic women with X‐
Externí odkaz:
https://doaj.org/article/2107960840a341fea5a51db2184b3ab8
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
Frontiers in Nutrition, Vol 9 (2022)
X-linked adrenoleukodystrophy (X-ALD) is an inherited disease caused by a mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein. It is characterized by the accumulation of very-long-chain fatty acids (VLCFAs) in body fluids and tiss
Externí odkaz:
https://doaj.org/article/8dd5a090c5f348fbaa9b5df7c68c276f