Results 91 to 100 of about 28,810 (212)

Structural and Functional Validation of Pseudomonas Savastanoi Ethylene Forming Enzymes Reveals Flexibility in 2‐Oxoglutarate Binding Mode and Conformation

ChemBioChem, Volume 27, Issue 5, 13 March 2026.
Studies with naturally occuring variants of the Pseudomonas savastanoi ethylene‐forming enzyme (PsEFE) inform on the effect of residues on turnover and product ratio. Crystallographic studies imply a potential for metal ion sensing. Pseudomonas savastanoi pv.
Yihong Sun, Siddhant Dhingra, Mark D. Allen, Ethan S. Z. Cheng, Zhihong Zhang, Christopher J. Schofield, Lennart Brewitz   +6 more
wiley   +1 more source

Self‐Immolative Systems in Diagnostic and Therapeutic Applications

ChemMedChem, Volume 21, Issue 5, 13 March 2026.
Self‐Immolative Systems enable the precise, residue‐free release of active molecules, drugs, probes, or sensors, via cyclization or elimination, triggered by specific stimuli. Their versatility drives advances in drug delivery, diagnostics, nanotechnology, materials chemistry, and biosensing, offering chemists control over molecular activation and ...
Windbedema Prisca Ouédraogo, Thomas Cailly, Valérie Collot   +2 more
wiley   +1 more source

Efferocytosis is impaired in Gaucher macrophages

Haematologica, 2017
Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is characterized by the presence of glucosylceramide-laden macrophages resulting from impaired digestion of aged erythrocytes or apoptotic leukocytes.
Elma Aflaki, Daniel K. Borger, Richard J. Grey, Martha Kirby, Stacie Anderson, Grisel Lopez, Ellen Sidransky   +6 more
doaj   +1 more source

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

A 30-Year-Old Carrier of Gaucher Disease with Multiple Myeloma

Case Reports in Oncological Medicine, 2019
We are reporting a case of a 30-year-old male with no past medical history who presented with new onset of renal failure, anemia, and splenomegaly and was diagnosed with multiple myeloma.
Juskaran Chadha, Tanmay Sahai, Joshua Schwimmer, Dana Shani   +3 more
doaj   +1 more source

Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat [PDF]

, 2014
Objective: Eliglustat is an investigational oral substrate reduction therapy for Gaucher disease type 1 (GD1). Its skeletal effects were evaluated by prospective monitoring of bone mineral density (BMD), fractures, marrow infiltration by Gaucher cells ...
Aguzzi, Rasha, Arreguin, Elsa Avila, Dragosky, Marta, Kamath, Ravi S., Lukina, Elena, Norfleet, Andrea M., Pastores, Gregory M., Peterschmitt, M. Judith, Puga, Ana Cristina, Rosenbaum, Hanna, Rosenthal, Daniel I., Watman, Nora, Zimran, Ari   +12 more
core   +1 more source

Medicine Development and Access for Rare Diseases: Can We Do Better?

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines.
Carla E. M. Hollak, Noa Rosenberg, Colinda Post, Nina Stolwijk, Evert Manders, Daphne Schoenmakers, Bart Penninx, Niels Reijnhout, Kathelijn Verdeyen, Roel Jonker, Annet M. Bosch, Mirjam Langeveld, Vincent van der Wel, Saco de Visser, Sibren van den Berg   +14 more
wiley   +1 more source

Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project

Haematologica, 2009
There are few published data from real-world clinical experience with miglustat (Zavesca®), an oral inhibitor of glucosylceramide synthase, in type 1 Gaucher disease.
Pilar Giraldo, Pilar Alfonso, Koldo Atutxa, María A. Fernández-Galán, Abelardo Barez, Rafael Franco, Dora Alonso, Alejandro Martin, Paz Latre, Miguel Pocovi   +9 more
doaj   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source