Results 21 to 30 of about 4,684 (195)

Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA) [PDF]

Genetics and Molecular Biology, 2007
Morquio A Syndrome (mucopolysaccharidosis IVA - MPS IVA, OMIM# 253000) is an autosomal recessive inborn error of metabolism caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS).
Tatiana Dieter, Ursula da Silveira Matte, Ida Vanessa Schwartz, Shunji Tomatsu, Roberto Giugliani   +4 more
doaj   +2 more sources

Adeno-associated virus-based gene therapy delivering combinations of two growth-associated genes to MPS IVA mice [PDF]

Molecular Therapy: Nucleic Acids
Mucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of the galactosamine (N-acetyl)-6-sulfatase (GALNS) enzyme responsible for the degradation of specific glycosaminoglycans (GAGs).
Estera Rintz, Betul Celik, Nidhi Fnu, Angélica María Herreño-Pachón, Shaukat Khan, Eliana Benincore-Flórez, Shunji Tomatsu   +6 more
doaj   +2 more sources

Exploring Multivalent Architectures for Binding and Stabilization of N-Acetylgalactosamine 6-Sulfatase [PDF]

Molecules
Morquio A syndrome is a lysosomal disorder caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine 6-sulfatase (GALNS, EC 3.1.6.4).
Maria Giulia Davighi, Francesca Clemente, Giampiero D’Adamio, Macarena Martínez-Bailén, Alessio Morano, Andrea Goti, Amelia Morrone, Camilla Matassini, Francesca Cardona   +8 more
doaj   +2 more sources

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

Molecular 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, Jose Victor Álvarez, F.N.U. Nidhi, Eliana Benincore-Florez, Shunji Tomatsu   +4 more
doaj   +2 more sources

Delayed diagnosis of mild mucopolysaccharidosis type IVA [PDF]

BMC Medical Genomics
Background Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic variants in the N-acetylgalactosamine-6-sulfatase (GALNS) gene and is characterized by progressive and multi-system involvements, dominantly with skeletal ...
Mengni Yi, Pinquan Shen, Huiwen Zhang
doaj   +2 more sources

Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene

Stem Cell Research
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder (LSD) caused by a deficiency of enzyme N-acetylgalactosamine-6-sulfatase (GALNS), characterised by systemic skeletal dysplasia and joint abnormalities with ...
Federica Feo, Silvia Falliano, Anna Caciotti, Marina Rinaldi, Alessia Caroli, Laura Giunti, Martino Calamai, Elena Procopio, Renzo Guerrini, Amelia Morrone, Rodolfo Tonin   +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

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation

Molecular Genetics and Metabolism Reports, 2018
A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 there were 15 people diagnosed with MPS IV.
Lina Johanna Moreno Giraldo, Ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, José María Satizabal Soto   +3 more
exaly   +3 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

Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS) [PDF]

, 2023
N-Acetylgalactosamine-6-sulfatase (GALNS) is an enzyme whose deficiency is related to the lysosomal storage disease Morquio A. For the development of effective therapeutic approaches against this disease, the design of suitable enzyme enhancers (i.e ...
Carozzini, Cosimo, Goti, Andrea, Ortore, Maria Grazia, Andreozzi, Patrizia, Beni, Alice, Morrone, Amelia, Matassini, Camilla, Buco, Francesca, Moya, Sergio Enrique, Paoli, Paolo, Clemente, Francesca, Marradi, Marco, Vanni, Costanza, Cardona, Francesca   +13 more
core   +1 more source