Results 101 to 110 of about 14,130 (212)

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non‐inferiority sequential trial emulation

Journal of Internal Medicine, EarlyView.
Abstract Objective To compare the efficacy and safety of extended interval (Q3–4W) enzyme replacement therapy (ERT) versus standard biweekly (Q2W) ERT in clinically stable type 1 Gaucher disease (GD) patients. Methods We emulated a target trial with a sequential trial design, using data from the French Gaucher Disease Registry.
Maxime Beydon, Jérôme Stirnemann, Karima Yousfi, Samira Zebiche, Dalil Hamroun, Anaïs Brassier, Samia Pichard, Laure Swiader, Thierry Billette de Villemeur, Bénédicte Héron, Florence Dalbies, Bérengère Cador, Anne‐Sophie Guemann, Francis Gaches, Bénédicte Hivert, Vanessa Leguy‐Seguin, Agathe Masseau, Yves‐Marie Pers, Magali Pettazzoni, Soumeya Bekri, Catherine Caillaud, Edouard Le Guillou, Marie Szymanowski, Leonardo Astudillo, Wladimir Mauhin, Yann Nadjar, Christine Serratrice, Marc G. Berger, Fabrice Camou, Nadia Belmatoug, Yann Nguyen, the French Evaluation of Gaucher Disease Treatment Committee   +31 more
wiley   +1 more source

Mitophagy in skeletal muscle: Impact of ageing, exercise and disuse

Experimental Physiology, EarlyView.
Abstract Skeletal muscle plays an important role in whole‐body health, quality of life and regulation of metabolism. The maintenance of a healthy mitochondrial pool is imperative for the preservation of skeletal muscle quality and is mediated through mitochondrial quality control consisting of mitochondrial turnover mediated by a balance between ...
Anastasiya Kuznyetsova, David A. Hood
wiley   +1 more source

Polymorphisms in the human glucocerebrosidase gene

Genomics, 1992
The two glucocerebrosidase genes from a patient with Gaucher disease were cloned and 8850 bp of each sequenced. Each clone had a single nucleotide change accounting for the clinical glucocerebrosidase deficiency, an A to G transition at cDNA nucleotide 1226 in one clone, and an insertion of a G at cDNA nucleotide 84 in the other clone.
E, Beutler, C, West, T, Gelbart
openaire   +2 more sources

Market Strategies for a Tobacco Bio-Pharming Application: The Case of Gaucher's Disease Treatment [PDF]

Small firms developing biotechnology applications often focus on establishing intellectual property rights, which can then be sold to more established firms with existing market chains. This paper explores the expected 'Buyout' price and economic surplus
Kostandini, Genti, Mills, Bradford F.
core   +1 more source

Neural Domain Adaptation for Biomedical Question Answering

, 2017
Factoid question answering (QA) has recently benefited from the development of deep learning (DL) systems. Neural network models outperform traditional approaches in domains where large datasets exist, such as SQuAD (ca.
Neves, Mariana, Weissenborn, Dirk, Wiese, Georg   +2 more
core   +1 more source

Skin Barrier Biomarkers in Patch‐Induced and Clinical Allergic and Irritant Contact Dermatitis

Contact Dermatitis, Volume 94, Issue 4, Page 317-326, April 2026.
Both patch‐induced and clinical ICD and ACD showed consistent alterations in skin barrier‐associated biomarkers, indicative of skin barrier impairment. Among the tested allergens, chromium elicited more pronounced biomarker responses compared to nickel and methylisothiazolinone.
Sanja Kezic, Florentine de Boer, Nariman K. A. Metwally, Karen Ghauharali‐van der Vlugt, Femke S. Beers‐Stet, Wouter Ouwerkerk, Ivone Jakasa, Thomas Rustemeyer, Henk F. van der Molen   +8 more
wiley   +1 more source

Enzyme replacement therapies: What is the best option? [PDF]

, 2018
Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Barar, Jaleh, Khiavi, Mostafa Akbarzadeh, Mousavi, Rahimeh, Rafi, Mohammad, Safary, Azam   +4 more
core   +2 more sources

Molecular Pharming: Advances, Applications, and Future Prospects in Biotechnology and Medicine

Engineering in Life Sciences, Volume 26, Issue 3, March 2026.
ABSTRACT Genetically engineered plants incorporate the use of a novel bioreactor known as molecular pharming, which has a transformative view on the pharmaceutical industry. The technique enables mass production, at a low cost, and reproducibly of a large number of different protein‐based drugs, vaccines, and industrial enzymes. This review‐based study
Md. Hridoy Ahmed, Md. Mustak Khan, Shishir Dutta, Md. Foyzur Rahman, Mohammad Shariful Islam, Md. Najmul Hosen, Md. Saad Hossain, Md. Aftabur Rahman, Md. Sadman Hasan Sahil, Tanjuma Tasnim Hira, Ifthesum, Ashikur Rahaman, Md. Afser Rabbi, Laila Khaleda   +13 more
wiley   +1 more source

Iminosugar‐Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers [PDF]

Chemistry & Biodiversity
AbstractA remarkable enhancer of human glucocerebrosidase enzyme (GCase) was identified among a set of dihydroazulene‐tagged iminosugars. An unprecedented 3.9‐fold increase in GCase activity was detected on fibroblasts bearing the homozygous L444P mutation, which is frequently associated with neuronopathic Gaucher forms, and which commonly results ...
Maria Giulia Davighi, Francesca Clemente, Emilie Sperling Andreasen, Mogens Brøndsted Nielsen, Camilla Matassini, Andrea Goti, Amelia Morrone, Paolo Paoli, Francesca Cardona, Martina Cacciarini   +9 more
openaire   +4 more sources

Ceramides in Parkinson’s Disease: From Recent Evidence to New Hypotheses

Frontiers in Neuroscience, 2019
Ceramides (Cer) constitute a class of lipids present in the cell membranes where they act as structural components, but they can also work as signaling molecules.
Nicoletta Plotegher, Luigi Bubacco, Elisa Greggio, Laura Civiero   +3 more
doaj   +1 more source