Results 21 to 30 of about 955 (143)

Multiple sulfatase deficiency: A case series of four children

Annals of Indian Academy of Neurology, 2013
Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying factor 1 (SUMF1), recently identified, encodes the enzyme responsible for post-translational ...
Faruk Incecik, Mehmet N Ozbek, Serdal Gungor, Stefano Pepe, Ozlem M Herguner, Neslihan Onenli Mungan, Sabiha Gungor, Sakir Altunbasak   +7 more
doaj   +3 more sources

Boolean Modeling of Biological Network Applied to Protein–Protein Interaction Network of Autism Patients [PDF]

Biology
Cellular molecules interact with one another in a structured manner, defining a regulatory network topology that describes cellular mechanisms. Genetic mutations alter these networks’ pathways, generating complex disorders such as autism spectrum ...
Leena Nezamuldeen, Mohsin Saleet Jafri
doaj   +2 more sources

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency [PDF]

EMBO Molecular Medicine, 2023
Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine‐generating enzyme (FGE).
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens‐Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti‐Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner   +20 more
doaj   +2 more sources

Pitfalls in Genetic Testing for Consanguineous Pediatric Populations [PDF]

Case Reports in Genetics, 2022
We describe the diagnostic odyssey of an eight-year-old female born to consanguineous parents. Our patient presented with global developmental delay, regression, microcephaly, spastic diplegia, and leukodystrophy confirmed on brain magnetic resonance ...
Maha Saleh, Samantha Colaiacovo, Melanie P. Napier, Asuri N. Prasad, C. Anthony Rupar, Chitra Prasad   +5 more
doaj   +2 more sources

Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study [PDF]

Molecular Genetics and Metabolism Reports
A patient with multiple sulfatase deficiency (MSD) was identified through a lysosomal storage disorder enzyme analysis panel, based on a characteristic pattern of reduced activities across multiple sulfatases.
Taraka R. Donti, James C. DiPerna, Madhuri R. Hegde   +2 more
doaj   +2 more sources

Molecular analysis ofSUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency [PDF]

Human Mutation, 2007
Multiple Sulfatase Deficiency (MSD) is a rare inborn autosomal-recessive disorder, which mainly combines clinical features of metachromatic leukodystrophy, mucopolysaccharidosis and X-linked ichthyosis. The clinical course ranges from neonatal severe to mild juvenile cases.
Schlotawa, Lars, Steinfeld, Robert, von Figura, Kurt, Dierks, Thomas, Gärtner, Jutta   +4 more
openaire   +4 more sources

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series [PDF]

Communications Medicine
Background Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases.
Nishitha R. Pillai, Ning Liu, Xiyuan Li, Xiqi Li, Rebecca Ahrens-Nicklas, Laura Adang, Julie B. Eisengart, Grace Bronken, Ashish Gupta, Troy C. Lund, Chester B. Whitley, Sarah H. Elsea, Paul J. Orchard   +12 more
doaj   +2 more sources

Sulfatase modifying factor 2 as a predictive biomarker for urothelial carcinoma [PDF]

Discover Oncology
Sulfatases mediate the sulfation level of cell-surface heparan sulfates to regulate signal transduction, thereby promoting cancer progression. Sulfatase activation requires a sulfatase modifying factor (SUMF) for the modification of its catalytic domain.
Wei-Ting Kuo, Yi-Chen Lee, Jia-Bin Liao, Ching-Jiunn Tseng, Yi-Fang Yang   +4 more
doaj   +2 more sources

Mendelian Randomization and Machine Learning Reveal Immune Cell and Gene Drivers in Systemic Lupus Erythematosus. [PDF]

Brain Behav
Flow schematic diagram ABSTRACT Background Systemic lupus erythematosus (SLE) is a complex autoimmune disease with unclear pathogenesis. Recent studies suggest that immune cell phenotypes may play a causal role. This study aimed to uncover causal immune cell types, key genes, and potential biomarkers using Mendelian randomization (MR) and machine ...
Huang L, Shi J, Li H, Lin Q.
europepmc   +2 more sources

The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes

Gene, 2003
Recently, the human C(alpha)-formylglycine (FGly)-generating enzyme (FGE), whose deficiency causes the autosomal-recessively transmitted lysosomal storage disease multiple sulfatase deficiency (MSD), has been identified. In sulfatases, FGE posttranslationally converts a cysteine residue to FGly, which is part of the catalytic site and is essential for ...
Landgrebe, J, Dierks, Thomas, Schmidt, B, Figura von, K   +3 more
openaire   +4 more sources