Results 131 to 140 of about 6,268,347 (286)

HexA-Enzyme Coated Polymer Nanoparticles for the Development of a Drug-Delivery System in the Treatment of Sandhoff Lysosomal Storage Disease. [PDF]

J Funct Biomater, 2022
Calzoni E, Cesaretti A, Montegiove N, Di Michele A, Pellegrino RM, Emiliani C.   +5 more
europepmc   +1 more source

The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction.

, 2012
Lysosomal storage diseases (LSDs) are a family of disorders that result from inherited gene mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in lysosomal enzymes, but also in some non-enzymatic lysosomal proteins, which ...
van der Spoel, AC, Platt, Frances, Platt, FM, Barry Boland, Aarnoud C. van der Spoel, Boland, B., Platt, F. M., van der Spoel, A. C., Frances M. Platt, Boland, B   +9 more
core   +1 more source

Nucleoside‐Modified mRNA Encoding Alpha‐Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC‐Derived Cardiomyocytes

Advanced Science, EarlyView.
Human iPSC‐derived Fabry cardiomyocytes exhibited broad transcriptional dysregulation, apoptosis, mitochondrial dysfunction, impaired reactive oxygen species handling, altered contractility, and abnormal calcium transient decay, potentially mediated by phospholamban hyperphosphorylation.
Malte Juchem, Lea Oehlsen, Sedef Ersoy, Jia Li Ye, Natalie Weber, Elisa Mohr, Wilson Agyapong, Junqing Liu, Maximilian Fuchs, Ke Xiao, Christopher Jahn, Reto Eggenschwiler, Tobias Cantz, Julia Beimdiek, Falk F. R. Buettner, Theresia Kraft, Jan Hegermann, Ivonne J. Knorr, Lisa Ernst, Linda Feldbrügge, Resa Puffert, Kevin Schmidt, Christian Bär, Jeannine Hoepfner, Thomas Thum   +24 more
wiley   +1 more source

Prevalence and management of Gaucher disease

Pediatric Health, Medicine and Therapeutics, 2011
T Andrew Burrow, Sonya Barnes, Gregory A GrabowskiThe Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USAAbstract: Gaucher ...
Burrow TA, Barnes S, Grabowski GA
doaj  

Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study. [PDF]

Orphanet J Rare Dis, 2021
Terai H, Tamai K, Hoshino M, Toyoda H, Suzuki A, Takahashi S, Hori Y, Yabu A, Nakamura H.   +8 more
europepmc   +1 more source

Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2 [PDF]

, 2006
A neonate presented with mucopolysaccharidosis-like phenotypic expression and typical signs of dysostosis multiplex but without urinary excretion of glycosaminoglycans.
Mueller, Peter, Moeckel, A., Daehnert, I.   +2 more
core  

A Decoy‐Receptor‐Armed Biomimetic Nanotherapeutic With Inherent Tropism for Conserved Pathogenic Macrophages for Treating Osteoarthritis and Intervertebral Disc Degeneration

Advanced Science, EarlyView.
A biomimetic doppelgänger nanosystem neutralizes extracellular inflammatory cytokines and silences intracellular pyroptosis, reprogramming pathogenic macrophages to attenuate both joint and spine degeneration. ABSTRACT Osteoarthritis (OA) and intervertebral disc degeneration (IVDD) are debilitating musculoskeletal disorders driven by shared ...
Fudong Li, Bin Zhang, Zhiqiu Zhang, Bing Zheng, Linhui Han, Chen Yan, Jialin Li, Kaiqiang Sun, Tianyi Zhao, Jiangang Shi   +9 more
wiley   +1 more source

Dried Blood Spot (DBS) Methodology Study for Biomarker Discovery in Lysosomal Storage Disease (LSD). [PDF]

Metabolites, 2021
Rus CM, Di Bucchianico S, Cozma C, Zimmermann R, Bauer P.   +4 more
europepmc   +1 more source

Supramolecular Degraders: An Emerging Paradigm in Targeted Protein Degradation

Advanced Science, EarlyView.
Dynamic supramolecular assembly reshapes targeted protein degradation by coordinating modular degrader construction, delivery, functional integration, and intracellular assembly or activation across proteasomal, endosomal–lysosomal, and autophagy–lysosomal pathways.
Kongjun Liu, Xue Yuan, Yan Zhou, Rui Yuan, Shaocheng Xie, Yong Chen, Peiyi Wang, Jianmei Gao, Qihai Gong   +8 more
wiley   +1 more source

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