Results 81 to 90 of about 60,786 (163)
, 2019 Silva TO, Souza CFM, Rocha JWB, et al. Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings. In: MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM.
Souza, Carolina F.M. +14 more
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GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
BMC Medical Genetics, 2018 Background Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are encoded by the GNPTAB gene.
Chi-Chun Ho +3 more
doaj +1 more source
Proteolytic remodelling of the extracellular matrix by pericytes
The FEBS Journal, Volume 293, Issue 13, Page 3899-3953, July 2026.Pericytes are specialised perivascular cells intimately connected with endothelial cells and essential for the maintenance of vascular beds. They contribute to the formation and remodelling of the extracellular matrix by actively secreting proteases and protease inhibitors.
Tina Burkhard +4 more
wiley +1 more source
Pediatric Obesity, Volume 21, Issue 7, July 2026.ABSTRACT Background Prenatal exposure to bisphenol A (BPA), an endocrine‐disrupting chemical, may influence childhood obesity. Evidence on sex‐specific effects remains inconsistent. Methods We analysed 528 mother–child pairs from a Korean birth cohort. Maternal urinary BPA concentrations were measured during mid‐pregnancy.
Youn‐Hee Lim +7 more
wiley +1 more source
, 2003 Dierks T, Schmidt B, Borissenko LV, et al. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme. CELL. 2003;113(4):435-444.C-alpha-formylglycine (FGly) is the catalytic residue in the
Figura von, K +17 more
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Molecular Genetics and Metabolism Reports, 2017 Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and ...
Anneliese L. Barth +12 more
doaj +1 more source
Sulfate starvation response modules connect sulfur metabolism to photorespiration and photosynthesis
The Plant Journal, Volume 127, Issue 1, July 2026.Significance Statement How plants regulate mineral homeostasis and integrate it with other physiological processes is crucial for developing crops that can better withstand environmental challenges. In this study, we show that PYD4 (PYRIMIDINE 4) and MGL (METHIONINE GAMMA‐LYASE), are involved in sulfate starvation response regulation. Moreover, PYD4 is
Suvajit Basu +7 more
wiley +1 more source
Analytical Science Advances, Volume 7, Issue 1, June 2026.ABSTRACT Steroids are critical for numerous physiological processes; disruption in their metabolism is associated with numerous endocrine disorders. Steroid quantification is essential to improve the understanding and diagnosis of these pathologies. Historically, urinary steroid profiling has been performed using low‐throughput gas chromatography mass ...
Joshua T. Bain +4 more
wiley +1 more source
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
Orphanet Journal of Rare Diseases, 2019 Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
Mehmet Umut Akyol +30 more
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“IDS crossing of the Blood-Brain Barrier corrects CNS defects in MPSII mice”
, 2010 IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice Mucopolysaccharidosis type II (MPSII), or Hunter syndrome, arises from a deficiency in iduronate 2-sulfatase (IDS), and it is characterized by progressive somatic and ...
Polito, Vinicia Assunta
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