Results 51 to 60 of about 133,872 (296)

Neutralizing anti-drug antibodies in Fabry disease have no obvious clinical impact?

Orphanet Journal of Rare Diseases, 2018
Fabry disease (FD) is a rare X-linked disorder caused by a deficiency of lysosomal α-galactosidase A activity. Treatment with recombinant enzyme replacement therapy is available since 2001 and the effects of anti-drug antibodies (ADA) on therapy efficacy
Malte Lenders, Boris Schmitz, Stefan-Martin Brand, Eva Brand   +3 more
doaj   +1 more source

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source

Dimethyl fumarate combined with cisplatin at subcytotoxic doses sensitizes cervical cancer toward ferroptosis and apoptosis through GSH restriction and p53 (re)activation

Molecular Oncology, EarlyView.
Dimethyl fumarate (DMF) reduces growth of HPV‐positive cervical cancer spheroids and induces ferroptosis in cervical cancer cells via blocking SLC7A11/Glutathione (GSH) axis. Combination of subcytotoxic doses of DMF and cisplatin (CDDP) further suppresses spheroid growth and drives cell death in 2D culture models.
Carolina Punziano, Giuseppina Minopoli, Simona Romano, Laura Marrone, Katia Aquilano, Maria Lina Tornesello, Raffaella Faraonio   +6 more
wiley   +1 more source

EDNRB‐dependent endothelin signaling reduces proliferation and promotes proneural‐to‐mesenchymal transition in gliomas

Molecular Oncology, EarlyView.
Glioma cells mainly express the endothelin receptor EDNRB, while EDNRA is restricted to a perivascular tumor subpopulation. Endothelin signaling reduces glioma cell proliferation while promoting migration and a proneural‐to‐mesenchymal transition associated with poor prognosis. This pathway activates Ca2+, K+, ERK, and STAT3 signalings and is regulated
Donovan Pineau, Leonor Garcia, Hugo Arnold, Antonija Hanžek, Maialen Arrieta, Laurent R Gauthier, Christine Granotier‐Beckers, François D Boussin, Amaury Herbet, Marie Hautière, Valentin Asei‐Ceschino, Clémentin Jacques, Laura Brard, Thomas Harnois, Valérie Coronas, Bruno Constantin, Aurélien Chatelier, Jean Chemin, Serge Urbach, Martial Seveno, Szimonetta Hideg, Chantal Ripoll, Kasandra Aguilar‐Cázarez, Min Zheng, Guo‐Hao Huang, Sheng‐Qing Lv, Lei Zhang, Philippe Rondard, Laurent Prezeau, Jean‐Philippe Pin, Hugues Duffau, Luc Bauchet, Valérie Rigau, Franck Denat, Charles Truillet, Didier Boquet, Jean‐Philippe Hugnot   +36 more
wiley   +1 more source

Pancreatic Enzyme Replacement Therapy in Cystic Fibrosis

Nutrients, 2022
While typically considered a pulmonary disease, cystic fibrosis patients develop significant nutritional complications and comorbidities, especially those who are pancreatic insufficient. Clinicians must have a high suspicion for cystic fibrosis among patients with clinical symptoms of pancreatic insufficiency, and pancreatic enzymatic replacement ...
Freswick, Peter N., Reid, Elizabeth K., Mascarenhas, Maria R.   +2 more
openaire   +2 more sources

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

, 2014
Enzyme replacement therapy is currently the only approved treatment for Pompe disease, due to acid α-glucosidase deficiency. Clinical efficacy of this approach is variable, and more effective therapies are needed.
Della Casa R, RAVAGLIA, SABRINA MARIA, DELLA CASA, ROBERTO, Ombrone D, DE FILIPPI, PAOLA, Porto C, DANESINO, CESARE, Ravaglia S, PARENTI, GIANCARLO, Fecarotta S, ANDRIA, GENEROSO, FECAROTTA, SIMONA, la Marca G, ROMANO, ALFONSO, Pichiecchio A, MOLLICA, CARMINE, Donati MA, Andria G., ASCIONE, SERENA, Rossi B, Parenti G, Donati, MA, Rosa M, PORTO, CATERINA, De Filippi P, Morandi LO, Nusco E, Ascione S, Romano A, Danesino C, Mollica C, Agovino T, Sacchini M, Pasanisi MB   +33 more
core   +1 more source

Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis [PDF]

, 2019
Agalsidasa alfa; Teràpia de reemplaçament enzimàtic; Malaltia de FabryAgalsidasa alfa; Terapia de reemplazo de enzimas; Enfermedad de FabryAgalsidase alfa; Enzyme replacement therapy; Fabry diseasePurpose: Following the publication of 5-year agalsidase ...
Beck, Michael, Kampmann, Christoph, Ramaswami, Uma, Botha, Jaco, Hughes, Derralynn, Pintos Morell, Guillem   +5 more
core   +1 more source

IMPDH inhibition enhances cytarabine efficacy in SAMHD1‐expressing leukaemia cells via guanine nucleotide depletion

Molecular Oncology, EarlyView.
Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla, Christopher Dirks, Caroline Eiden, Sonja K. Fesenmayer, Femke M. Hormann, Yolande Klootsema, Ingrid Lilienthal, Si Min Zhang, Nikolas Herold, Sean G. Rudd   +9 more
wiley   +1 more source

CCDC80 suppresses high‐grade serous ovarian cancer migration via negative regulation of B7‐H3

Molecular Oncology, EarlyView.
PAX8 is a lineage‐specific master regulator of transcription in high‐grade serous ovarian cancer (HGSC) progression. We show for the first time that PAX8 facilitates proliferation and metastasis by repressing the cell autonomous tumor suppressor CCDC80 and inducing B7‐H3 expression.
Aya Saleh, Nitzan Medina‐Itzhaki, Milena Chekov, Eden Gal‐Swisa, Roba Gabesh‐Wahabi, Inbar Savyon, Inna Naroditsky, Hilary A. Kenny, Basem Fares, Lina Korsensky, Einav Girsh, Liron Berger, Ruth Perets   +12 more
wiley   +1 more source

Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. [PDF]

, 2013
Glycogen storage disease type II is a rare multi-systemic disorder characterised by an intracellular accumulation of glycogen due a mutation in the acid alpha glucosidase (GAA) gene.
Hundsberger, Thomas, Rösler, Kai Michael, Rohrbach, Marianne, Kern, Lukas   +3 more
core   +1 more source