Results 11 to 20 of about 5,752 (150)

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease [PDF]

BMC Medical Genetics, 2018
Background Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene.
Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone   +12 more
doaj   +6 more sources

Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineered Escherichia coli strain [PDF]

Heliyon
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in the accumulation of keratan sulfate (KS) and chondroitin-6 ...
Luisa N. Pimentel-Vera, Alexander Rodríguez-López, Angela J. Espejo-Mojica, Aura María Ramírez, Carolina Cardona, Luis H. Reyes, Shunji Tomatsu, Thapakorn Jaroentomeechai, Matthew P. DeLisa, Oscar F. Sánchez, Carlos J. Alméciga-Díaz   +10 more
doaj   +2 more sources

Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylation [PDF]

The Journal of Clinical Investigation
Mucopolysaccharidoses (MPS) are lysosomal storage diseases caused by defects in catabolism of glycosaminoglycans. MPS I, II, III, and VII, which are associated with lysosomal accumulation of heparan sulphate (HS), manifest with neurological deterioration
TianMeng Xu, Rachel Heon-Roberts, Travis Moore, Patricia Dubot, Xuefang Pan, Tianlin Guo, Christopher W. Cairo, Rebecca J. Holley, Brian Bigger, Thomas M. Durcan, Thierry Levade, Jerôme Ausseil, Bénédicte Amilhon, Alexei Gorelik, Bhushan Nagar, Shaukat Khan, Shunji Tomatsu, Luisa Sturiale, Angelo Palmigiano, Iris Röckle, Hauke Thiesler, Herbert Hildebrandt, Domenico Garozzo, Alexey V. Pshezhetsky   +23 more
doaj   +2 more sources

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome) [PDF]

Molecular Genetics and Metabolism Reports
Mucopolysaccharidosis (MPS) IVA (Morquio A syndrome) is an autosomal recessive lysosomal storage disorder caused by a mutation affecting the enzyme N-acetylgalactosamine-6-sulfatase (EC 3.1.6.4, GALNS).
Juyoung Sung, Insung Kim, Minji Im, Yoon Ji Ahn, Sang-Mi Kim, Ja-Hyun Jang, Hyung-Doo Park, Tae Yeon Jeon, Kyung Rae Ko, Se-Jun Park, Jun Hwa Lee, Eun Young Kim, Chong Kun Cheon, Eungu Kang, Jung-eun Moon, Young Bae Sohn, Hsiang-Yu Lin, Chih-Kuang Chuang, Shuan-Pei Lin, Sung Yoon Cho   +19 more
doaj   +2 more sources

Clinical significance and in vitro biological function of GALNS protein in hepatocellular carcinoma

陆军军医大学学报, 2022
Objective To investigate the clinical significance and in vitro biological function of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) in hepatocellular carcinoma (HCC).
LIU Zeyu, LUO Yuandeng, LI Xun
doaj   +1 more source

Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder. [PDF]

Clin Case Rep
ABSTRACT This case highlights a rare co‐existence of Morquio syndrome with bronchial asthma and myoclonic seizures, expanding the known clinical spectrum. It emphasizes the need for comprehensive, multidisciplinary management to address multisystem involvement and describes the challenges of treatment in resource‐limited settings where advanced ...
Bastola B, Dahal S, Acharya RR, Sah M, Wagle P.   +4 more
europepmc   +2 more sources

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

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A

Molecular Genetics and Metabolism Reports, 2022
Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and ...
Young Bae Sohn, Curtis Rogers, Jennifer Stallworth, Jessica A. Cooley Coleman, Laura Buch, Erin Jozwiak, Jo Ann Johnson, Tim Wood, Paul Harmatz, Laura Pollard, Raymond J. Louie   +10 more
doaj   +1 more source

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]

, 2020
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L., Otero, Francisco J., Piechnik, Matthew, Sawamoto, Kazuki, Suzuki, Yasuyuki, Tomatsu, Shunji, Álvarez González, José Víctor   +6 more
core   +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