Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions
J. Victor. Álvarez,
Susana B. Bravo,
María Pilar Chantada-Vázquez
et al.
Abstract: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 underlying bone involvement in humans are typically explored using invasive techniques such as bone biopsy, which complicates analysis in humans. We compared bone proteomes using DDA and SWATH-MS in wild-type and MPS IV… Show more
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