Results 121 to 130 of about 10,759 (233)

Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice

open access: yesMolecular Therapy: Methods & Clinical Development, 2023
Mucopolysaccharidosis (MPS) IVA is a lysosomal storage disorder caused by mutations in the GALNS gene that leads to the lysosomal accumulation of keratan sulfate (KS) and chondroitin 6-sulfate, causing skeletal dysplasia and cardiopulmonary complications.
Andrés Felipe Leal   +5 more
doaj  

Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

open access: yesCase Reports in Medicine, 2013
Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate.
Albina Tummolo   +7 more
doaj   +1 more source

Involvement of langerin in the protective function of a keratan sulfate-based disaccharide in an emphysema mouse model. [PDF]

open access: yesJ Biol Chem, 2023
Ohkawa Y   +8 more
europepmc   +1 more source

Natural history of Morquio A patient with tracheal obstruction from birth to death

open access: yesMolecular Genetics and Metabolism Reports, 2018
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan ...
Caitlin Doherty   +6 more
doaj   +1 more source

Transport studies of chondroitin sulfate disaccharide through articular cartilage [PDF]

open access: yes, 1997
Thesis (M. Eng.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 1997.Includes bibliographical references (leaves 56-57).by Julianne Jiang Zhu.M ...
Zhu, Julianne Jiang
core  

Glycosaminoglycans: Sweet as Sugar Targets for Topical Skin Anti-Aging

open access: yesClinical, Cosmetic and Investigational Dermatology, 2021
Siew Tein Wang, Boon Hoe Neo, Richard J Betts L’Oréal Research & Innovation, L’Oréal Singapore, SingaporeCorrespondence: Richard J Betts Email richard.betts@rd.loreal.comAbstract: Glycosaminoglycans (GAGs) are long, linear polysaccharides comprised of ...
Wang ST, Neo BH, Betts RJ
doaj  

Evaluation of AAV vectors with tissue-specific or ubiquitous promoters in a mouse model of mucopolysaccharidosis type IVA

open access: yesMolecular Therapy: Methods & Clinical Development
Mucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of N-acetyl-galactosamine-6-sulfate sulfatase (GALNS), leading to the accumulation of keratan sulfate and chondroitin-6-sulfate and development of severe skeletal dysplasia.
Shaukat A. Khan   +4 more
doaj  

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