Results 91 to 100 of about 60,786 (163)

Synthesis of a C‐2 Functionalized l‐Iduronic Acid Derivative as a Candidate Pharmacological Chaperone for MPS II (Hunter Syndrome)

Chemistry – An Asian Journal, Volume 21, Issue 11, 15 June 2026.
A C‐2 functionalized l‐iduronic acid derivative was designed and synthesized as a candidate pharmacological chaperone for iduronate‐2‐sulfatase (IDS), the enzyme involved in the lysosomal storage disease MPS II (Hunter syndrome). The synthesis overcomes significant synthetic challenges associated with manipulations of L‐ido scaffolds.
Vaibhavi Nagendra, Shifaza Mohamed, Nicholas W. See, Norbert Wimmer, Daniel Neumann, Paul J. Trim, Marten Snel, Aidan J. Brock, Jack K. Clegg, Neha S. Gandhi, Kim M. Hemsley, Adeline A. Lau, Vito Ferro   +12 more
wiley   +1 more source

Natural disease history and characterisation of molecular defects in ten unrelated patients with multiple sulfatase deficiency

, 2015
International audienceBackground: Multiple sulfatase deficiency is a rare inherited metabolic disorder caused by mutations in the SUMF1 gene. The disease remains poorly known, often leading to a late diagnosis.
Emmanuelle Le Trionnaire, Catherine Caillaud, Pédespan, Jean-Michel, Lionel Mourey, Anne Dusser, Roseline Froissart, André Megarbane, Thierry Levade, Verloes, Alain, Caillaud, Catherine, Guffon, Nathalie, Bednarek, Nathalie, Vassili Valayannopoulos, Alain Verloes, Marie-Ange Delrue, Sabourdy, Frédérique, Chaix, Yves, Garnotel, Roselyne, Yves Chaix, Megarbane, André, Froissart, Roseline, Nathalie Bednarek, Mourey, Lionel, Samia Pichard, Ogier de Baulny, Hélène, Roselyne Garnotel, Le Trionnaire, Emmanuelle, Dusser, Anne, Delrue, Marie-Ange, Nathalie Guffon, Hélène Ogier de Baulny, Pichard, Samia, Valayannopoulos, Vassili, Jean-Michel Pédespan, Levade, Thierry, Frédérique Sabourdy   +35 more
core   +1 more source

Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis.

PLoS ONE, 2019
X-linked ichthyosis (XLI) is a rare X-linked dermatological condition arising from deficiency for the enzyme steroid sulfatase (STS). STS is normally expressed in the brain, and males with XLI exhibit personality differences from males in the general ...
Alice Cavenagh, Sohini Chatterjee, William Davies   +2 more
doaj   +1 more source

Novel Fundoscopic Features in Mucopolysaccharidosis Type VI: Multimodal Evaluation of Scleral Deposits

Case Reports in Ophthalmology
Introduction: Mucopolysaccharidosis type VI (MPS VI) is a rare inherited metabolic disorder, primarily attributed to the deficiency of the enzyme N-acetylgalactosamine-4-sulfatase, responsible for the degradation of dermatan sulfate and chondroitin-4 ...
Augusto Magalhães, Margarida Ribeiro, Jorge Meira, Ana Filipa Moleiro, Esmeralda Rodrigues, Elisa Leão-Teles   +5 more
doaj   +1 more source

Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme

, 2005
Dierks T, Dickmanns A, Preusser-Kunze A, et al. Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. CELL.
Figura von, K, Schmidt, B, Mariappan, M, Dickmanns, A, Mariappan, Malaiyalam, Schmidt, Bernhard, Rudolph, Markus Georg, Von Figura, K., Preusser-Kunze, A, Ficner, R, Ficner, Ralf, von Figura, Kurt, Rudolph, M., Dierks, Thomas, Ficner, R., Dierks, T., Preusser-Kunze, A., Rudolph, MG, Dickmanns, Achim, Mariappan, M., Preusser-Kunze, Andrea, Dickmanns, A.   +21 more
core   +1 more source

College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance

Genetics in Medicine Open
Purpose: Glycosaminoglycans (GAGs) accumulate in patients with mucopolysaccharidoses (MPS), multiple sulfatase deficiency, and mucolipidoses; measurement of total GAGs and the specific excretion pattern by fractionation can aid in their diagnosis.
Kristina Cusmano-Ozog, Dietrich Matern, Thomas Long, Nicola Longo, Sarah Young   +4 more
doaj   +1 more source

Current and emerging management options for patients with Morquio A syndrome

Therapeutics and Clinical Risk Management, 2013
Mohamed F Algahim, G Hossein AlmassiDivision of Cardiothoracic Surgery, Medical College of Wisconsin, Milwaukee, WI, USAAbstract: Morquio A syndrome is a lysosomal storage disease associated with mucopolysaccharidosis. It is caused by a deficiency of the
Algahim MF, Almassi GH
doaj  

Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential

Cell Death and Disease
Mucopolysaccharidosis (MPS) type II is caused by a deficiency of iduronate-2-sulfatase and is characterized by the accumulation of glycosaminoglycans (GAGs).
Tzu-Yu Chen, Shuan-Pei Lin, De-Fong Huang, Hsien-Sung Huang, Feng-Chiao Tsai, Li-Jen Lee, Hsiang-Yu Lin, Hsiang-Po Huang   +7 more
doaj   +1 more source

The molecular cause of multiple sulfatase deficiency: cleaning, functional and structural analysis of variant proteins of formylglycine-generating enzyme

, 2015
The Multiple sulfatase deficiency (MSD) is an inherited metabolic disease caused by mutations in the SUMF1 gene. The encoded ER-located Cα-formylglycine-generating enzyme (FGE) catalyzes the activation of newly synthesized sulfatases by cotranslationally
Mühlhausen, Helene
core   +1 more source

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation

BMC Pediatrics
Background Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive lysosomal storage disorder characterized by progressive central nervous system degeneration and behavioral abnormalities.
Haiying Zou, Li Yang, Yao Qin, Renlong Zhang   +3 more
doaj   +1 more source