Results 61 to 70 of about 957 (152)

Uprising Unconventional Nanobiomaterials: Peptoid Nanosheets as a Multi‐Modular Platform for Advanced Biological Studies

Small, Volume 21, Issue 9, March 5, 2025.
Peptoid nanosheets, bio‐inspired nanomaterials, are gaining attention for their potential in biological studies. This review explores their unique assembly mechanisms, versatile chemical properties, and tunable functionalities. Emphasis is placed on their applications in biology highlighting the advantages of peptoid nanosheets over other nanomaterials.
Gustavo Carretero, Hettikankanamge Kalani Samarasekara, Alessia Battigelli, Biljana Mojsoska   +3 more
wiley   +1 more source

AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction

Molecular Therapy: Methods & Clinical Development, 2020
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene, which encodes the exogalactosyl hydrolase, alpha-galactosidase A (α-Gal A).
Makiko Yasuda, Marshall W. Huston, Silvere Pagant, Lin Gan, Susan St. Martin, Scott Sproul, Daniel Richards, Stephen Ballaron, Khaled Hettini, Annemarie Ledeboer, Lillian Falese, Liching Cao, Yanmei Lu, Michael C. Holmes, Kathleen Meyer, Robert J. Desnick, Thomas Wechsler   +16 more
doaj   +1 more source

Lentivirus‐mediated gene therapy for Fabry disease: 5‐year End‐of‐Study results from the Canadian FACTs trial

Clinical and Translational Medicine, Volume 15, Issue 1, January 2025.
Durable 5‐year End‐of‐Study results from the ‘first‐in‐the‐world’ gene therapy trial for Fabry disease. Abstract Background Fabry disease is an X‐linked lysosomal storage disorder due to a deficiency of α‐galactosidase A (α‐gal A) activity. Our goal was to correct the enzyme deficiency in Fabry patients by transferring the cDNA for α‐gal A into their ...
Aneal Khan, Dwayne L. Barber, William M. McKillop, C. Anthony Rupar, Christiane Auray‐Blais, Graeme Fraser, Daniel H. Fowler, Alexandra Berger, Ronan Foley, Armand Keating, Michael L. West, Jeffrey A. Medin   +11 more
wiley   +1 more source

Globotriaosylsphingosine improves risk stratification of kidney progression in Fabry disease patients

Clinica Chimica Acta
Kidney damage is common in patients with Fabry disease (FD), but more accurate information about the risk of progression to kidney failure is needed for clinical decision-making. In particular, FD patients with mild renal involvement often lack timely intervention and treatment. We aimed to utilize a model to predict the risk of renal progression in FD
Yan, Ouyang, Wei, Zhang, Zhanzheng, Zhao, Chaohui, Wang, Hong, Ren, Jingyuan, Xie, Xiao, Li, Pingyan, Shen, Hao, Shi, Jing, Xu, Yaowen, Xu, Weiming, Wang, Li, Yang, Xialian, Yu, Weihong, Chen, YaWen, Zhao, Zheng, Wang, YiFan, Wu, Nan, Chen, XiaoXia, Pan   +19 more
openaire   +2 more sources

Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the followME Fabry Pathfinders registry

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Fabry disease is a progressive, X‐linked lysosomal disorder caused by reduced or absent α‐galactosidase A activity due to GLA variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat‐amenable GLA variants in the followME Pathfinders registry (EUPAS20599), an ongoing, prospective, patient‐focused ...
Derralynn A. Hughes, Gere Sunder‐Plassmann, Ana Jovanovic, Eva Brand, Michael L. West, Daniel G. Bichet, Antonio Pisani, Albina Nowak, Roser Torra, Aneal Khan, Olga Azevedo, Anna Lehman, Aleš Linhart, Jasmine Rutecki, Joseph D. Giuliano, Eva Krusinska, Peter Nordbeck   +16 more
wiley   +1 more source

Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease

Molecular Genetics and Metabolism Reports, 2018
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids.
Jun Okada, Mohammad Arif Hossain, Chen Wu, Takashi Miyajima, Hiroko Yanagisawa, Keiko Akiyama, Yoshikatsu Eto   +6 more
doaj   +1 more source

Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients. [PDF]

Intern Med
Objectives Fabry disease is characterized by the systemic accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3), which are widely used as biomarkers of the disease. However, few reports have described the relationship of Lyso-Gb3 analogs and Gb3 isoforms with the disease.
Shiga T, Tsukimura T, Kubota T, Togawa T, Sakuraba H.   +4 more
europepmc   +3 more sources

A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Pegunigalsidase alfa, a PEGylated α‐galactosidase A enzyme replacement therapy (ERT) for Fabry disease, has a longer plasma half‐life than other ERTs administered intravenously every 2 weeks (E2W). BRIGHT (NCT03180840) was a phase III, open‐label study in adults with Fabry disease, previously treated with agalsidase alfa or beta E2W for ≥3 ...
Myrl Holida, Aleš Linhart, Antonio Pisani, Nicola Longo, François Eyskens, Ozlem Goker‐Alpan, Eric Wallace, Patrick Deegan, Camilla Tøndel, Ulla Feldt‐Rasmussen, Derralynn Hughes, Anat Sakov, Rossana Rocco, Einat Brill Almon, Sari Alon, Raul Chertkoff, David G. Warnock, Stephen Waldek, William R. Wilcox, John A. Bernat   +19 more
wiley   +1 more source

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized therapy knowledgebase is needed for early diagnosis and targeted treatment. This study aimed to identify all treatable IEMs
Bibiche den Hollander, Eva M. M. Hoytema van Konijnenburg, Brittany Hewitson, Jan C. van der Meijden, Berith M. Balfoort, Brad Winter, Annelieke R. Müller, Wyeth W. Wasserman, Carlos R. Ferreira, Clara D. van Karnebeek   +9 more
wiley   +1 more source

Chinese Expert Consensus on the Diagnosis and Treatment of Adult Fabry Disease Cardiomyopathy

罕见病研究
Fabry disease (FD) is an X-linked genetic disorder caused by mutations in the GLA gene. It leads to reduced or complete deficiency of the activity of α-galactosidase A (α-Gal A), resulting in an accumulation of the metabolic substrate ...
Chinese Society of Cardiology, Chinese Medical Association, Editorial Board of Chinese Journal of Cardiology   +1 more
doaj   +1 more source