Results 31 to 40 of about 4,684 (195)

Umbilical mesenchymal stem cell-derived extracellular vesicles as enzyme delivery vehicle to treat Morquio A fibroblasts

Stem Cell Research & Therapy, 2021
Background Mucopolysaccharidosis IVA (Morquio A syndrome) is a lysosomal storage disease caused by the deficiency of enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), which results in the accumulation of the glycosaminoglycans (GAGs), keratan ...
Michael Flanagan, Isha Pathak, Qi Gan, Linda Winter, Ryan Emnet, Salem Akel, Adriana M. Montaño   +6 more
doaj   +1 more source

Stabilizacija željezno-galne tinte fitatnim postupkom [PDF]

Portal : godišnjak Hrvatskoga restauratorskog zavoda, 2021
Nizozemski je institut za kulturnu baštinu sredinom devedesetih godina prošlog stoljeća predstavio stabilizaciju željezno-galne tinte fitatnim postupkom kao konzervatorsku metoda usporavanja degradacijskih procesa na rukopisima te je od tada ona dobro
openaire   +2 more sources

Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads

Frontiers in Pediatrics, 2022
IntroductionMucopolysaccharidosis Type IVA (MPS IVA) or Morquio A Syndrome, is a rare metabolic disorder caused by compromised galactosamine-6 sulfatase (GALNS) encoded by GALNS gene (NM_000512.5), leading to keratin sulfate (KS), and chondroitin-6 ...
Yiyang Ma, Hao Peng, Fuchou Hsiang, Haoyu Fang, Dajiang Du, Chenyi Jiang, Yehui Wang, Chun Chen, Changqing Zhang, Yun Gao   +9 more
doaj   +1 more source

GALNS gene expression profiling in Morquio A patients' fibroblasts [PDF]

Clinica Chimica Acta, 2008
Quantification studies of mutated mRNAs have not been carried out on Morquio A patients. Such studies are very important for the determination of stability of premature termination codons (PTC) bearing transcripts in order to assess the appropriateness of introducing the newly developed therapeutic strategies such as "stop codon read-through therapy ...
L. Carraresi, R. Parini, C. Filoni, A. Caciotti, G. Sersale, S. Tomatsu, ORLANDO, CLAUDIO, ZAMMARCHI, ENRICO, GUERRINI, RENZO, M. A. Donati, MORRONE, AMELIA   +10 more
openaire   +3 more sources

Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice. [PDF]

PLoS ONE, 2010
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), an enzyme that degrades keratan sulfate (KS). Currently no therapy for MPS IVA is available.
Melita Dvorak-Ewell, Dan Wendt, Chuck Hague, Terri Christianson, Vish Koppaka, Danielle Crippen, Emil Kakkis, Michel Vellard   +7 more
doaj   +1 more source

Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with <i>SGSH</i> and <i>GALNS</i> Deficiencies. [PDF]

Genes (Basel)
Background: Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders caused by deficiencies in glycosaminoglycan (GAG)-degrading enzymes, leading to progressive multisystem involvement. Methods: We evaluated two unrelated consanguineous Pakistani families, each with three individuals showing features consistent with MPS. Affected individuals in
Awan FN, Zulfiqar S, Eiman L, Asif M, Hussain MS, Dahl N, Baig SM, Oda H.   +7 more
europepmc   +2 more sources

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

Molecular 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, Betul Celik, Nidhi Fnu, Shaukat Khan, Shunji Tomatsu, Carlos Javier Alméciga-Díaz   +5 more
doaj   +1 more source

Natural Evolution of Morquio A Syndrome Caused by Two Heterozygous Mutations of the GALNS Gene

Balkan Medical Journal, 2022
Milos D Pajic, Ivana I Kavecan, Jadranka M Maksimovic, Sinisa S Babovic, Biljana T Bojadzieva Stojanoska   +4 more
doaj   +3 more sources

The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A [PDF]

Journal of Molecular Biology, 2012
Lysosomal enzymes catalyze the breakdown of macromolecules in the cell. In humans, loss of activity of a lysosomal enzyme leads to an inherited metabolic defect known as a lysosomal storage disorder. The human lysosomal enzyme galactosamine-6-sulfatase (GALNS, also known as N-acetylgalactosamine-6-sulfatase and GalN6S; E.C.
Yadilette, Rivera-Colón, Emily K, Schutsky, Adriana Z, Kita, Scott C, Garman   +3 more
openaire   +2 more sources

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene [PDF]

Journal of Medical Genetics, 2004
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disorder caused by a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate sulfatase (GALNS; E.C.3.1.6.4; OMIM# 253000). GALNS is one of the sulfatases required to degrade glycosaminoglycans (GAGs), keratan sulfate (KS), and chondroitin-6-sulfate (C6S).
S, Tomatsu, T, Nishioka, A M, Montaño, M A, Gutierrez, O S, Pena, K O, Orii, W S, Sly, S, Yamaguchi, T, Orii, E, Paschke, S G, Kircher, A, Noguchi   +11 more
openaire   +2 more sources