Results 61 to 70 of about 3,524,002 (263)

Cardiac involvement in Lysosomal Storage Diseases

, 2020
Lysosomal storage diseases (LSDs) include a heterogeneous group of rare, inborn, metabolic diseases characterized by deficiency of lysosomal enzymes or of other proteins involved in lysosomal function, leading to multi organ system substrates ...
Concolino D., Sestito S., Parisi F., Tarsitano F., Calabro M. P., Chimenz R., Pensabene L., Tallarico V., Roppa K., Ceravolo G., Moricca M. T., De Sarro R., Bonapace G.   +12 more
core   +1 more source

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

Epidemiology of lysosomal storage diseases in Sweden

, 2014
There are more than 50 inherited lysosomal storage diseases (LSDs), and this study examined the incidence of clinically diagnosed LSDs in ...
Malin Hult, von Döbeln, Ulrika, Ulrika von Döbeln, Darin, Niklas,, Niklas Darin, Jan‐Eric Månsson, Hult, Malin,, Månsson, Jan-Eric,   +7 more
core   +1 more source

From Cell‐Derived Vesicles to Hybrid Nanovectors: Biological Membranes as Functional Blueprints for Gene Delivery

Advanced Healthcare Materials, EarlyView.
Biologically derived and hybrid nonviral nanovectors are examined as distinct but convergent design approaches. Integrating synthetic components with biologically functionalized membranes allows efficient interactions with complex cellular environments.
Clara Baldari, Claudia Leone, Gabriella Leccese, Claudia De Stradis, Alessandra Invidia, Concetta Quintarelli, Biagio De Angelis, Franco Locatelli, Giuseppe Gigli, Gabriele Maiorano, Ilaria Elena Palamà   +10 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

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

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

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

Recent advances in gene therapy for lysosomal storage disorders [PDF]

, 2015
David PW Rastall,1 Andrea Amalfitano1,2 1Department of Microbiology and Molecular Genetics, 2Department of Pediatrics, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, USA Abstract: Lysosomal storage disorders (LSDs) are a ...
Amalfitano A, Rastall DP
core  

Engineered Nanoplatforms Targeting Activated Hepatic Stellate Cells for Liver Fibrosis Therapy via TGF‐β Axis Inhibition and Ferroptosis Induction

Advanced Healthcare Materials, EarlyView.
FeS‐VA@lanifibranor (FVL), an activated hepatic stellate cell (aHSC)‐targeted nanoplatform comprising vitamin A‐functionalized two‐dimensional iron sulfide nanosheets and lanifibranor, is engineered for precision therapy of liver fibrosis. FVL suppresses the TGF‐β signaling pathway by inhibiting SMAD2/3 phosphorylation and induces ferroptosis in aHSCs,
Yinuo Yang, Mengyao Mu, Ke Ren, Hui Liu, Pengju Ma, Yingqi Wang, Mengmeng Zhang, Xueli Xu, Wenzhe Li, Wenshuang Gao, Xiao Sun, Qiang Zhu   +11 more
wiley   +1 more source