Results 31 to 40 of about 18,706 (235)

Enzyme replacement therapy in lysosomal acid lipase deficiency (LAL-D): a systematic literature review

Therapeutic Advances in Rare Disease, 2021
Background: Lysosomal acid lipase deficiency (LAL-D) is a very rare genetic abnormality caused by LIPA gene mutation. The disease has two distinct clinical variants in humans: Wolman disease in infants and cholesteryl ester storage disease in children ...
Aamir Bashir, Pramil Tiwari, Ajay Duseja
doaj   +1 more source

A Holistic Platform Approach for Developing Robust Pulmonary mRNA Delivery: Integrating Novel Phenolic Acid‐Derived Ionizable Lipids and Device Engineering

Advanced Functional Materials, EarlyView.
An integrated pulmonary mRNA delivery platform combining novel biodegradable syringic acid‐derived ionizable lipids, design‐of‐experiments formulation optimization, and vibrating‐mesh nebulizer engineering enabled stable aerosolization and efficient lung delivery.
Neha Kaushal, Younan Ma, Asad Khanmohammed, Dipen Parande, Hanming Zhang, Saket Dolare, Juliet Chen, Apiwat Wangweerawong, Saswata Karmakar, Hongfeng Deng, Frank Koppenhagen, Shraddha Sharma, Eric Reyes, Sherry He, Lianne Boeglin, Caroline Woo, Azadeh Paksa, Ayed Allawzi, Anusha Dias, Gregory Troiano, Shrirang Karve, Frank DeRosa   +21 more
wiley   +1 more source

A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL‐D) and the molecular characterization of 18 LAL‐D patients from Russia

JIMD Reports, 2019
Laboratory diagnostics of lysosomal acid lipase deficiency (LAL‐D), a rare disorder associated with LIPA alterations, are based on the evaluation of LAL activity.
Nikolay Mayanskiy, Ekaterina Brzhozovskaya, Alexander Pushkov, Tatiana Strokova, Nikolay Vlasov, Andrej Surkov, Olga Gundobina, Kirill Savostianov   +7 more
doaj   +1 more source

Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice*

Journal of Lipid Research, 2008
Lysosomal acid lipase (LAL) is an essential enzyme that hydrolyzes triglycerides (TGs) and cholesteryl esters (CEs) in lysosomes. Genetic LAL mutations lead to Wolman disease (WD) and cholesteryl ester storage disease (CESD).
Hong Du, Terri L. Cameron, Stephen J. Garger, Gregory P. Pogue, Lee A. Hamm, Earl White, Kathleen M. Hanley, Gregory A. Grabowski   +7 more
doaj   +1 more source

Microfluidic Nano‐Assembly of Red‐Blood‐Cell (RBC) Lipids and Components for Engineering Extracellular Vesicles

Advanced Healthcare Materials, EarlyView.
Engineered red blood cell‐derived extracellular vesicles (eRBCEVs) are synthesized via controlled microfluidic assembly from native RBC lipids, enabling tunable encapsulation of proteins, nucleic acids, nanoparticles, and viral vectors. The platform demonstrates reproducible nanoscale architecture, preserved membrane composition, and functional cargo ...
Chiranth K. Nagaraj, Xilal Y. Rima, Kim T. Nguyen, Courtney Culkins, Nana Boateng, Jacob Doon‐Ralls, Alejandro Bresolin, Xin Huang, Hong Li, Vahedi Amid, Ajeet Pal Singh, Dharti Shantaram, Anastasiia Amari, Mangesh D. Hade, Nicholas R. Merriam, Zachary D. Schultz, Scott Q. Harper, Nizar Y. Saad, Setty M. Magaña, Willa A. Hsueh, Rachel E. Kopec, Blaise R. Kimmel, Andre F. Palmer, Eduardo Reátegui   +23 more
wiley   +1 more source

Targeting CD300a Signaling With a Phosphatidylserine‐Presenting Hydrogel Rescues Macrophage Dysfunction and Accelerates Diabetic Wound Healing

Advanced Healthcare Materials, EarlyView.
Schematic illustration of the proposed mechanism: PEG/RGD‐PSLs mimic apoptotic cells to engage PS receptors (notably CD300a), transducing an inhibitory signal that suppresses the MyD88/NF‐κB pathway, leading to global anti‐inflammatory and pro‐reparative effects.
Lele Wu, Xuetong Hao, Yang Zou, Xinglin Chen, Junyan Kong, Chunning Gu, Wenjie Ma, Zhongjun Yang, Huifen Liu, Mengmeng Liu, Xin Tong   +10 more
wiley   +1 more source

Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy [PDF]

РМЖ. Мать и дитя, 2022
N.A. Polyanskaya1, A.A. Gorbunova2, E.B. Pavlinova1, O.A. Savchenko1, I.A. Kirshina1, M.E. Bagaeva3,4, T.V. Strokova3,4 1Omsk State Medical University, Omsk, Russian Federation 2Regional Children’s Clinical Hospital, Omsk, Russian Federation ...
N.A. Polyanskaya, A.A. Gorbunova, E.B. Pavlinova, O.A. Savchenko, I.A. Kirshina, M.E. Bagaeva, T.V. Strokova   +6 more
doaj  

2‐Deoxyglucose Dendrimer‐Enabled Niclosamide Delivery to FRβ‐Expressing Macrophages Alleviates Endometriosis Progression and Associated Hyperalgesia

Advanced Healthcare Materials, EarlyView.
A folic acid (FA)‐conjugated 2‐deoxyglucose dendrimer selectively targets FRβ+ macrophages in endometriotic lesions, enabling precise intracellular delivery of niclosamide. This nonhormonal nanomedicine enhances drug solubility, provides controlled intracellular release, suppresses lesion growth, reduces inflammation and pain, and establishes FRβ ...
Anubhav Dhull, Mingxin Shi, Madeleine E. Harvey, Taylor M. Page, Rishi Sharma, Kenneth John Goody, Aqib Iqbal Dar, Nash S. Moawad, Vijay Kumar Sirohi, Paul S. Cooke, Kanako Hayashi, Anjali Sharma   +11 more
wiley   +1 more source

Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease

Redox Biology, 2017
Niemann Pick type C (NPC) disease is a progressive lysosomal storage disorder caused by mutations in genes encoding NPC1/NPC2 proteins, characterized by neurological defects, hepatosplenomegaly and premature death.
Sandra Torres, Nuria Matías, Anna Baulies, Susana Nuñez, Cristina Alarcon-Vila, Laura Martinez, Natalia Nuño, Anna Fernandez, Joan Caballeria, Thierry Levade, Alba Gonzalez-Franquesa, Pablo Garcia-Rovés, Elisa Balboa, Silvana Zanlungo, Gemma Fabrías, Josefina Casas, Carlos Enrich, Carmen Garcia-Ruiz, José C. Fernández-Checa   +18 more
doaj   +1 more source

Anisotropic Masked Mycobacterium Potentiates Amplified Antitumor Trained Immunity via Spleen Targeting and Myelopoiesis Conversion

Advanced Materials, EarlyView.
An engineered Trojan Mycobacterium, developed via a “peeling‐off and masking‐up” strategy, functions as a powerful splenic myelopoiesis converter. This spleen‐targeted nanomedicine induces trained immunity to reprogram immunosuppressive myeloid reservoirs into antitumoral effectors.
Jin‐Ho Choi, Sang Nam Lee, Jang Hun Heo, Soyoung Park, Sei Hyun Park, Yong Taik Lim   +5 more
wiley   +1 more source