Results 71 to 80 of about 133,872 (296)

Enzyme replacement therapy in Fabry disease, towards individualized treatment [PDF]

, 2017
Fabry disease is a very heterogeneous disorder for which expensive enzyme replacement therapy is available since more than 15 years. Because of the variety of symptoms and disease course, individual choices need to be made to improve the appropriate use ...
Arends, M.
core   +1 more source

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.

PLoS ONE, 2017
Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy.
Maarten Arends, Marieke Biegstraaten, Derralynn A Hughes, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Frédéric M Vaz, André B P van Kuilenburg, Christoph Wanner, Carla E M Hollak   +10 more
doaj   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report

Journal of Medical Case Reports
Background Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction.
Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta   +6 more
doaj   +1 more source

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

, 2020
Nicola Specchio, Nicola Pietrafusa, Marina Trivisano Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyCorrespondence: Nicola SpecchioDepartment of Neuroscience, Bambino Ges ...
Pietrafusa N, Trivisano M, Specchio N
core  

Suppression of lung adenocarcinoma migration through organelle alkalization by human lactoferrin – albumin fusion

FEBS Open Bio, EarlyView.
This paper reveals how human lactoferrin–albumin fusion (hLF‐HSA) potently suppresses lung adenocarcinoma cell migration. hLF‐HSA upregulates NHE7, leading to Golgi alkalization, disruption of the Golgi secretome, downregulation of MMP1, and reversal of EMT. These findings suggest a novel Golgi‐targeting strategy to suppress cancer cell migration.
Hana Nopia, Masahiro Kimura, Daisuke Kurimoto, Atsushi Sato   +3 more
wiley   +1 more source

Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2015
Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal and #945;-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas.
Neslihan Onenli Mungan, Fatih Temiz, Berna seker Yilmaz, Mehmet Nuri Ozbek, Mehmet Karakas, Serdar Ceylaner, Ali Kemal Topaloglu, Bilgin Yuksel   +7 more
doaj  

Gene therapy in Anderson-Fabry disease. State of the art and future perspectives

Cardiogenetics, 2020
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, agalactosidase A. The inadequate enzymatic activity leads to systemic storage of glycosphingolipids, mostly globotriaosylceramide, in ...
Giorgio Spiniello, Federica Verrillo, Riccardo Ricciolino, Dario Prozzo, Andrea Tuccillo, Martina Caiazza, Marta Rubino   +6 more
doaj   +1 more source

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

, 2009
BACKGROUND: We analysed 5-year treatment with agalsidase alfa enzyme replacement therapy in patients with Fabry's disease who were enrolled in the Fabry Outcome Survey observational database (FOS).
Barbey, F., Ries, M, Mehta, A, Elliott, P, Fabry, Outcome survey Investigators, Linhart, A, Beck, M., Pirson, Yves, Giugliani, R, Guigliani, R, Mehta, A., Linhart, A., Barbey, F, Schiffmann, R., Sunder-Plassmann, G., Clarke, J. T. R., Nassogne, Marie-Cécile, Sunder-Plassmann, G, Elliott, P., Ries, M., FABRY outcome survey investigators, Huynh-Do, U, Clarke, J T R, Clarke, J.T., Feliciani, Claudio, Giugliani, R., Beck, M, Clarke, JT, Schiffmann, R   +28 more
core   +1 more source

Identifying transcription factors controlling the basal expression of human MRP4 highlights a substantial role for Sp1

FEBS Open Bio, EarlyView.
The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer, Angelique Kragl, Katrin Ziems, Juliane Glaubitz, Sophie Grammbauer, Susanne Hildebrandt, Mladen V. Tzvetkov, Gabriele Jedlitschky   +7 more
wiley   +1 more source