Results 91 to 100 of about 2,254 (171)

Identification of Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB

ChemBioChem, Volume 25, Issue 15, August 1, 2024.
We modeled substrate interactions in NAGLU′s active site and predicted allosteric sites. Virtual screening against a human‐tested molecule database identified potential pharmacological chaperones (PCs). In vitro evaluations confirmed their binding to NAGLU and ability to restore enzymatic activity in MPS IIIB fibroblasts with mutant enzymes.
Juan Camilo Losada, Heidy Triana, Egdda Vanegas, Angela Caro, Alexander Rodríguez‐López, Angela Johana Espejo‐Mojica, Carlos Javier Alméciga‐Diaz   +6 more
wiley   +1 more source

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

JIMD Reports, 2020
Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism characterized by a deficiency of the lysosomal enzyme, N‐acetylgalactosamine 6‐sulphatase (GALNS).
Sharon J. Chin, Jennifer T. Saville, Belinda K. McDermott, Andreas Zankl, Janice M. Fletcher, Maria Fuller   +5 more
doaj   +1 more source

Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles

Scientific Reports, 2022
Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate in the lysosomal lumen.
Andrés Felipe Leal, Javier Cifuentes, Carlos Emilio Torres, Diego Suárez, Valentina Quezada, Saúl Camilo Gómez, Juan C. Cruz, Luis H. Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz   +9 more
doaj   +1 more source

Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia

Orphanet Journal of Rare Diseases
Background Mucopolysaccharidosis type IVa (Morquio A syndrome) and mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) are rare inherited lysosomal storage diseases associated with significant functional impairment and a wide spectrum of debilitating
Moeenaldeen AlSayed, Dia Arafa, Huda Al-Khawajha, Manal Afqi, Nouriya Al-Sanna’a, Rawda Sunbul, Maha Faden   +6 more
doaj   +1 more source

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL) [PDF]

, 2016
International audienceAbstractRare diseases are an important public health issue with high unmet need. The introduction of the EU Regulation on orphan medicinal products (OMP) has been successful in stimulating investment in the research and development ...
A Denis, A Desser, A Dupont, A Farrugia, A Ferrario, A Kesselheim, A Schieppati, A Sharma, Adam Hutchings, AIFA (Italian Medicines Agency), B Adams, B Jönsson, B Potter, C Palaska, C Schey, C Schey, C Solon, Carlo Tomino, D Endrei, D Hughes, D Mullins, D Tordrup, David Taylor, E Augustine, Elena Nicod, EMA (European Medicine Agency), EMA (European Medicine Agency), EUCERD (The European Union Committee of Experts on Rare Diseases), EUCERD (The European Union Committee of Experts on Rare Diseases), EUCERD (The European Union Committee of Experts on Rare Diseases), EUCERD (The European Union Committee of Experts on Rare Diseases), EUnetHTA (European Network for Health Technology Assessment), EUPATI (The European Patients’ Academy), EUPATI (The European Patients’ Academy), EUR-Lex Access to European Union law, European Commission, European Commission, European Commission, European Commission, EURORDIS, EURORDIS, HTAi (Health Technology Assessment International), I Onakpoya, IRDiRC-EMA (The International Rare Diseases Research Consortium and European Medicine Agency), J Mestre-Ferrandiz, J Sussex, J Whitty, Jean-Louis Roux, Josep Torrent-Farnell, K Facey, K Facey, K Simon, K Staley, Karen Facey, L Barham, L Drummond, L Gutierrez, L Schnipper, Lieven Annemans, Lugdivine Le Dez, M Douglas, M Drummond, M Field, M Garau, M Mazzucato, M Paulden, M Schlander, M Schlander, M Wagner, Michael Schlander, Michele Reni, N Cherny, N Grubert, NHS England Cancer Drugs Fund Tram. Appraisal and Funding of Cancer Drugs from July 2016 (including the new Cancer Drug Fund), NICE (The National Institute for Health and Care Excellence, England), NICE (The National Institute for Health and Care Excellence, England), NICE (The National Institute for Health and Care Excellence, England), NICE (The National Institute for Health and Care Excellence, England), NICE (The National Institute for Health and Care Excellence, England), O Lantrès, P Kanavos, P Rollet, P Vickers, P Wahlster, P Williams, Penilla Gunther, R Griggs, R Vrueh de, Rare Disease Task Force, S Aardweg Van den, S Berglas, S Gasson, S Kleijnen, S Simoens, S Simoens, Sheela Upadhyaya, Ségolène Aymé, T Gammie, T Morel, V Fedyaeva, V Paris, W Hughes-Wilson, W Liney, WHO (World Health Organization), Yann Le Cam   +104 more
core   +6 more sources

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA [PDF]

Korean Journal of Pediatrics, 2012
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder.
Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin   +7 more
openaire   +3 more sources

Evaluation of tendon and ligament microstructure and mechanical properties in a canine model of mucopolysaccharidosis I

Journal of Orthopaedic Research, Volume 42, Issue 7, Page 1409-1419, July 2024.
Abstract Mucopolysaccharidosis (MPS) I is a lysosomal storage disorder characterized by deficient alpha‐l‐iduronidase activity, leading to abnormal accumulation of glycosaminoglycans (GAGs) in cells and tissues. Synovial joint disease is prevalent and significantly reduces patient quality of life.
Yian Khai Lau, Keerthana Iyer, Snehal Shetye, Chet S. Friday, George R. Dodge, Michael W. Hast, Margret L. Casal, Rahul Gawri, Lachlan J. Smith   +8 more
wiley   +1 more source

Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain

Molecular Genetics and Metabolism, 2012
Mucopolysaccharidosis type IVA (Morquio A) is an inherited metabolic disease with autosomal recessive inheritance. The pathology is due to a deficient activity of N-acetylgalactosamine-6-sulfate-sulfatase, which is involved in the degradation of keratan sulfate and chondroitin-6-sulfate.
Pajares S, Alcalde C, Couce ML, Del Toro M, González-Meneses A, Guillén E, Pineda M, Pintos G, Gort L, Coll MJ   +9 more
openaire   +6 more sources

Mucopolysaccharidosis type IVA and severe hidradenitis suppurativa: A case series. [PDF]

JAAD Case Rep
Fialová J, Kojanová M, Šáhó R, Magner M.   +3 more
europepmc   +5 more sources

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders [PDF]

, 2014
BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families.
Armstrong, J., Castiñeiras, D., Castro-Gago, M., Cocho, J., Couce, M., Eiris, J., Fernández-Marmiesse, A., Fraga, J., Gouveia, S., Lacerda, L., Morey, M., Pineda, M., Pérez-Poyato, M.   +12 more
core   +2 more sources