Results 71 to 80 of about 72,104 (287)

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Frontiers in Genetics, 2023
Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies.
Rutaba Gul, Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Mulazim Hussain, Frederik F. Staeger, Anette P. Gjesing, Anders Albrechtsen, Torben Hansen   +11 more
doaj   +1 more source

Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]

, 2019
Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie, Do, Mai Anh, Levy, Daniel, Lu, Biao, Marriott, Gerard   +4 more
core   +1 more source

Combined Therapies for Lysosomal Storage Diseases

Current Molecular Medicine, 2015
Lysosomal storage diseases (LSDs) is a group consisting of over 50 disorders caused mostly by dysfunctions of lysosomal proteins and resultant accumulation of particular compounds inside cells and extracellular volumes in affected organisms. Genetic diseases are among the most difficult targets for medical treatment.
M, Gabig-Cimińska, J, Jakóbkiewicz-Banecka, M, Malinowska, A, Kloska, E, Piotrowska, I, Chmielarz, M, Moskot, A, Węgrzyn, G, Węgrzyn   +8 more
openaire   +3 more sources

Biomimetic Copper‐Doped Nano‐Aluminum Adjuvant Potentiates Therapy in Chemoresistant Acute Myeloid Leukemia

Advanced Healthcare Materials, EarlyView.
We developed a novel copper‐doped aluminum nano‐adjuvant (CuNA) to overcome cytarabine resistance in acute myeloid leukemia (AML). CuNA effectively sensitizes drug‐resistant AML cells to cytarabine by inducing mitochondrial dysfunction and inhibiting HMGCR/GPX4 to amplify ferroptosis.
Chao He, Lingxiao Zhang, Yue Xiong, Yu Wang, Yuqing Zeng, Dandan Su, Ran Wang, Ying Li, Hongbo Chen, Fang Cheng, Zhi Ping Xu   +10 more
wiley   +1 more source

Small Extracellular Vesicles from Neural Cells: Physiological and Pathological Roles, and Potential in Neurodegenerative Therapy

Advanced Healthcare Materials, EarlyView.
Neural cell–derived small extracellular vesicles (sEVs) are emerging as pivotal mediators in neurodegenerative diseases, exerting both pathogenic and therapeutic functions. This review synthesizes current evidence on how sEVs from distinct neural cell types regulate neurodegeneration, neuroprotection, biomarker discovery, and targeted drug delivery ...
Muhammad Waqas Salim, Wei Zhang, Lyndsey Collins‐Praino, Yuling Wang, Andrew Care   +4 more
wiley   +1 more source

Review: Therapeutic approaches for lysosomal storage diseases

Therapeutic Advances in Endocrinology and Metabolism, 2010
The lysosomal storage disorders (LSDs) comprise a heterogeneous group of inborn errors of metabolism characterized by tissue substrate deposits, most often caused by a deficiency of the enzyme normally responsible for catabolism of various byproducts of ...
Gregory M. Pastores
doaj   +1 more source

Highlights on Genomics Applications for Lysosomal Storage Diseases

Cells, 2020
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the lysosome.
Valentina La Cognata, Maria Guarnaccia, Agata Polizzi, Martino Ruggieri, Sebastiano Cavallaro   +4 more
doaj   +1 more source

Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II. [PDF]

, 2017
Mucopolysaccharidosis I and II are lysosomal storage disorders that, despite treatment with hematopoietic cell transplantation (HCT) and/or enzyme replacement therapy (ERT), continue to cause significant skeletal abnormalities leading to pain, stiffness,
Dickson, Patricia, Kunin-Batson, Alicia, Polgreen, Lynda E, Rudser, Kyle, Utz, Jeanine J, Vehe, Richard K, Whitley, Chester B   +6 more
core   +3 more sources

One‐Step Microfluidic Manufactured Fucose‐Decorated Sweetosomes Choose the Time and the Road for Their Intracellular Journey to Cancer Treatment

Advanced Healthcare Materials, EarlyView.
Sweetosomes, a new class of fucose‐decorated liposomes, are developed via a one‐step microfluidic process without surface chemistry. This study elucidates their main caveolae‐mediated entry and distinct endosomal trafficking. These nanostructures demonstrate superior endosomal escape, organelle acidity modulation, and prolonged plasma persistence ...
Mattia Tiboni, Mariele Montanari, Shiva Khorshid, Michele Verboni, Andrea Duranti, Simone Lucarini, Daniele Lopez, Annalisa Aluigi, Gianluca Morganti, Michele Menotta, Giovanna Panza, Daniel J. Klionsky, Barbara Canonico, Luca Casettari   +13 more
wiley   +1 more source

Golgi defect as a major contributor to lysosomal dysfunction

Frontiers in Cell and Developmental Biology
The Golgi apparatus plays a crucial role in lysosome biogenesis and the delivery of lysosomal enzymes, essential for maintaining cellular homeostasis and ensuring cell survival. Deficiencies in Golgi structure and function can profoundly impact lysosomal
Sarah R. Akaaboune, Yanzhuang Wang
doaj   +1 more source