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Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disease (LSD) caused by deficiency of a hydrolase enzyme, N-acetylgalactosamine-6-sulfate sulfatase, and characterized clinically by mainly musculoskeletal manifestations. The mechanisms unde...
ORGANISM(S): Mus musculus (Mouse) 
2024-05-24 | PXD042166 | Pride
Mucolipidosis type II (ML II) is a rare lysosomal storage disorder caused by deficiency of the UDP-GlcNAc:N-acetylglucosamine-1-phosphotransferase enzyme, which catalyzes the synthesis of the mannose-6-phosphate (M6P) targeting signal for lysosomal acid hydrolases. This deficiency hinders lysosomal ...
ORGANISM(S): Homo sapiens (Human) 
2025-05-07 | PXD060270 | Pride
(1) Background: Polycystic liver disease (PLD) is a heterogeneous group of congenital disorders characterized by bile duct dilatation and cyst development derived from cholangiocytes. Nevertheless, the cystogenesis mechanism is currently unknown and the PLD treatment is limited to liver transplantat...
ORGANISM(S): Mus musculus (Mouse) 
2022-04-04 | PXD031253 | Pride
In the last two decades, several disease-modifying treatments (DMTs) have been developed for MS. These therapies are based on the modulation of the immune system and the aim to reduce the disease activity. However, as the natural course of the disease is unpredictable, the benefit of each treatment ...
ORGANISM(S): Homo sapiens (Human) 
2025-05-06 | PXD048002 | Pride
This project investigates a sperm-specific isoform of the catalytic (C) subunit of cAMP-dependent protein kinase (PKA) in the marine mussel Mytilus galloprovincialis, an externally fertilizing invertebrate widely used as a model for gamete activation studies. A C-subunit isoform purified from male g...
ORGANISM(S): Crenomytilus 
2026-09-07 | PXD076788 | Pride
Background: Gout is an inflammatory arthritis associated with increased bone anabolism and a higher risk of ectopic bone formation. Colchicine, used to prevent and treat acute gouty flares, inhibits microtubule polymerization and has been described to promote osteoblastogenesis. In bone disorders su...
ORGANISM(S): Mus musculus (Mouse) 
2026-02-02 | PXD072951 | Pride
Mechanical thrombectomy (MT) has improved disability outcomes after ischemic stroke (IS), mainly when the so-called modified first-pass effect (mFPE) is achieved. This study aims to explore the proteomic profiling of thrombi composition in those patients who achieved mFPE. A prospective study was co...
ORGANISM(S): Homo sapiens (Human) 
2026-03-30 | PXD066161 | Pride
Relaxin-2 is a hormone with robust beneficial effects on the heart and blood vessels and with a potential therapeutic efficacy in cardiovascular (CV) disease. Considering the interorgan communication between skeletal muscle and heart, and the relation between muscle quality/composition and CV events...
ORGANISM(S): Rattus norvegicus (Rat) 
2026-09-21 | PXD078619 | Pride
Extracellular vesicles (EVs) play a crucial role in cell-to-cell communication and serve as a source of biomarkers in several pathologies. In this study, we aimed to characterize plasma-derived EVs isolated by ultracentrifugation (UC) or size exclusion chromatography (SEC) to define the best method ...
ORGANISM(S): Homo sapiens (Human) 
2025-02-14 | PXD056613 | Pride
Neddylation is a post-translational mechanism that adds a ubiquitin-like protein, namely neural precursor cell expressed developmentally down-regulated protein 8, to target proteins, with yet-unknown consequences. Here we show in mice that neddylation in liver is modulated by nutrient availability. ...
ORGANISM(S): Mus musculus (Mouse) 
2023-10-08 | PXD043054 | Pride
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