Results 91 to 100 of about 2,496,873 (280)

Prenatal-Onset Niemann–Pick Type C Disease with Nonimmune Hydrops Fetalis

Pediatrics and Neonatology, 2013
Niemann–Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This autosomal recessive disorder occurs in approximately 1/
Ozge Surmeli-Onay, Selin Yakarisik, Ayse Korkmaz, Zuhal Akcoren, Aysel Yuce, Heiko Runz, Miriam Stampfer, Murat Yurdakok   +7 more
doaj   +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

Impact of ER stress and the unfolded protein response on Fabry disease

EBioMedicine
Summary: Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic missense and nonsense variants in the α-galactosidase A (GLA) gene, leading to absent or reduced enzyme activity.
Malte Lenders, Elisa Rudolph, Eva Brand
doaj   +1 more source

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina

Journal of Inborn Errors of Metabolism and Screening, 2015
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Paula A Rozenfeld PhD, Romina Ceci Bioc, Norma Roa Lic, Isaac Kisinovsky MD   +3 more
doaj   +1 more source

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis

Saudi Journal of Kidney Diseases and Transplantation, 2016
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj   +1 more source

The Neuroimmune Landscape of the Lysosomal Storage Disorder Sanfilippo Syndrome [PDF]

Lysosomal storage disorders (LSDs) such as Sanfilippo syndrome (Mucopolysaccharidosis type III) are characterized by impaired lysosomal degradation due to inherited in lysosomal proteins.
Schlachetzki, Johannes CM, Badell‐Grau, Rafael A   +1 more
core   +1 more source

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

Purifying and profiling lysosomes to expand understanding of lysosomal dysfunction–associated diseases

The Journal of Clinical Investigation
Lysosome storage dysfunction plays a central role in numerous human diseases, but a lack of appropriate tools has hindered lysosomal content profiling in clinical settings. In this issue of the JCI, Saarela et al. introduce a method called tagless LysoIP
Ali Shilatifard, Issam Ben-Sahra
doaj   +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

Rapid Multisystem Deterioration After Enzyme Replacement Therapy Discontinuation in Fabry Disease: A Familial Case Series with Kidney Transplantation

Turkish Journal of Nephrology
Fabry disease (FD) is an X-linked lysosomal storage disorder with progressive kidney cardiac, and neurological involvement. Enzyme replacement therapy (ERT) remains the cornerstone of management; however, the clinical consequences of treatment ...
Erdem Baran
doaj   +1 more source