Results 111 to 120 of about 37,661 (243)

Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction.

PLoS Biology
Glycosphingolipids (GSL) are important bioactive membrane components. GSLs containing sialic acids, known as gangliosides, are highly abundant in the brain and diseases of ganglioside metabolism cause severe early-onset neurodegeneration. The ganglioside
Alex S Nicholson, David A Priestman, Robin Antrobus, James C Williamson, Reuben Bush, Shannon J McKie, Henry G Barrow, Emily Smith, Kostantin Dobrenis, Nicholas A Bright, Frances M Platt, Janet E Deane   +11 more
doaj   +1 more source

Biophysical Characterization and Proteomic Analysis of Small Extracellular Vesicles Derived From Different Neural Cell Lines

Advanced NanoBiomed Research, EarlyView.
This study systematically compares small extracellular vesicles (sEVs) derived from four neural cell lines, revealing how cellular origin shapes vesicle biophysical properties and proteomic cargo. Distinct, lineage‐specific signatures linked to neuronal, astrocytic, and microglial functions are identified, highlighting the importance of cell source ...
Muhammad Waqas Salim, Wei Zhang, Lyndsey E. Collins‐Praino, Andrew Care, Yuling Wang   +4 more
wiley   +1 more source

Gene therapy for lysosomal storage diseases: Current clinical trial prospects. [PDF]

Front Genet, 2023
Kido J, Sugawara K, Nakamura K.
europepmc   +1 more source

Comparative Transcriptional Profiling of Key Macrophage and Fibroblast Subpopulations in Rheumatoid Arthritis–Associated Lung Disease

Arthritis &Rheumatology, EarlyView.
Objective Rheumatoid arthritis (RA) often involves extra‐articular complications, including interstitial lung disease (ILD) and/or pulmonary nodules. Transcriptomic profiling of lung tissue provides the opportunity to directly assess cell‐specific gene expression and corresponding pathway activation in different types of rheumatoid lung disease ...
Tracy Tabib, Ogechukwu Ezenwa, Joshua Sciurba, Eleanor B. Valenzi, John Sembrat, Brittany Cody, Jishnu Das, Robert Lafyatis, Dana P. Ascherman   +8 more
wiley   +1 more source

Infusion rate adjustment in enzyme replacement therapy with pabinafusp alfa for mucopolysaccharidosis II

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aims Enzyme replacement therapy (ERT) for mucopolysaccharidosis II (MPS II) requires long‐term, weekly intravenous infusions often lasting over 3 h each time, which can burden paediatric patients and caregivers and negatively affect their quality of life and treatment compliance.
Kimitoshi Nakamura, Norio Sakai, Hideaki Hirai, Naoko Takasao, Ryo Ibaraki, Tatsuyoshi Yamamoto, Yuji Sato   +6 more
wiley   +1 more source

Population Pharmacokinetic/Pharmacodynamic Modeling of Therapeutic Enzymes in Lysosomal Storage Diseases. [PDF]

Clin Pharmacokinet
Barzel I, van der Ploeg AT, Pijnappel WWMP, van der Kuy PHM, van den Hout JMP, Preijers T.   +5 more
europepmc   +1 more source

Novel Fused Pyrazole Amide Analogs as Glucosylceramide Synthase Inhibitors for Treating Lysosomal Storage Diseases, Neurodegenerative Diseases, Cystic Diseases, and Cancer. [PDF]

ACS Med Chem Lett, 2023
Sabnis RW.
europepmc   +1 more source

Purification of Advanced Therapeutics by Flow‐Through Pseudo‐Affinity Chromatography: Bi‐Specific mABs, Fc Fusion Proteins, and Adeno‐Associated Viruses

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Modern biopharmaceutical manufacturing requires purification platforms capable of processing structurally and functionally diverse products while addressing the challenge of removing persistent and high‐risk host cell proteins (HCPs).
Wenning Chu, Eduardo Barbieri, Arianna Minzoni, Shriarjun Shastry, Jacob P. LeBarre, Qingbo Shu, Taufika Williams, Xuanwen Li, Divya Chandra, Xuankuo Xu, Jerome Bill, David Roush, Joseph Taris, Patrick Gilbert, Andre Kiesewetter, Oliver Rammo, Michael Schulte, Christopher Major, Trina Mouchahoir, Steven Cramer, Cristiana Boi, Ruben G. Carbonell, Abraham Lenhoff, Stefano Menegatti   +23 more
wiley   +1 more source

Nonimmune Hydrops Fetalis and Lysosomal Storage Diseases

Pediatrics and Neonatology, 2013
Carlo Bellini
doaj   +1 more source

Human, economic, and social impact of lysosomal storage diseases. [PDF]

Orphanet J Rare Dis
Brignani E, de Castro-López MJ, Gonzalez-Meneses A, Morales M, Pintos-Morell G, Poveda JL, Vilalta I, Cruz J, Ballester-Lozano GF, David de Paz H.   +9 more
europepmc   +1 more source