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Umbilical mesenchymal stem cell-derived extracellular vesicles as enzyme delivery vehicle to treat Morquio A fibroblasts
BackgroundMucopolysaccharidosis IVA (Morquio A syndrome) is a lysosomal storage disease caused by the deficiency of enzyme N -acetylgalactosamine-6-su...
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Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe
Mucopolysaccharidosis type IVA, also known as Morquio (Morquio-Brailsford) syndrome results from accumulation of keratan sulfate (KS) and...
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The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
BackgroundMucopolysaccharidosis IVA (Morquio syndrome A, MPS IVA) is an autosomal recessive lysosomal storage disorder caused due to biallelic...
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A glycomic workflow for LC–MS/MS analysis of urine glycosaminoglycan biomarkers in mucopolysaccharidoses
In recent years, several rational designed therapies have been developed for treatment of mucopolysaccharidoses (MPS), a group of inherited metabolic...
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Voice alterations in patients with Morquio A syndrome
Morquio A syndrome, or mucopolysaccharidosis (MPS IV A), is an inherited lysosomal storage disorder which belongs to the group of...
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Misdiagnosis in mucopolysaccharidoses
Mucopolysaccharidosis (MPS) is a group of 13 hereditary metabolic diseases identified in humans (or 14 diseases if considering one MPS type described...
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Homozygosity stretches around homozygous mutations in autosomal recessive disorders: patients from nonconsanguineous Indian families
India has a large heterogeneous population with its unique social and genetic characteristics. Tradition of marriage between specific caste groups...
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Detection of Glycosaminoglycans in Biological Specimens
Proteoglycans (PGs) are macromolecules formed by a protein backbone to which one or more glycosaminoglycan (GAG) side chains are covalently attached....
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Diversity and features of proteins with structural repeats
The review provides information on proteins with structural repeats, including their classification, characteristics, functions, and relevance in...
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Vascular Phenomenon
HemangiomasHemangiomasHemangiomas and other vascular anomaliesAnomalies are well represented in the fossil record, although predominantly detected on...
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Structural, Functional, and Evolutionary Characteristics of Proteins with Repeats
AbstractThe review summarizes and systematizes the data on the classification, taxonomic distribution, structural features, and functions of proteins...
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Osseous Structures and Their Response Repertoire
Circumferential bone growth is periosteum-derived; longitudinal growth is endochondralEndochondral in nature and dependent on vascular channels...
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Assaying Lysosomal Enzyme Activity in Dictyostelium discoideum
Lysosomes are membrane-enclosed organelles that digest intracellular material. They contain more than 50 different enzymes that can degrade a variety...
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Genome Editing Tools for Lysosomal Storage Disorders
Genome editing has multiple applications in the biomedical field. They can be used to modify genomes at specific locations, being able to either...
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Stem Cell Applications in Lysosomal Storage Disorders: Progress and Ongoing Challenges
Lysosomal storage disorders (LSDs) are rare inborn errors of metabolism caused by defects in lysosomal function. These diseases are characterized by...
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Quantitative proteomics identifies and validates urinary biomarkers of rhabdomyosarcoma in children
BackgroundRhabdomyosarcoma (RMS) is the most common soft tissue sarcoma with poor prognosis in children. The 5-year survival rate for early RMS has...
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Principles of bone and tissue banking in Saudi Arabia: 10-year experience report
BackgroundThe role of bone and tissue banking is well known to meet the ever-growing need of bone and soft tissue allografts. Strict guidelines have...
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Glycosphingolipids
Glycosphingolipids are amphiphilic plasma membrane components formed by a glycan linked to a specific lipid moiety. In this chapter we report on...