Multiple sulfatase deficiency: a disease comprising mucopolysaccharidosis, sphingolipidosis, and more caused by a defect in posttranslational modification
L Schlotawa, LA Adang, K Radhakrishnan… - International journal of …, 2020 - mdpi.com
Multiple sulfatase deficiency (MSD, MIM# 272200) is an ultra-rare disease comprising
pathophysiology and clinical features of mucopolysaccharidosis, sphingolipidosis and other …
pathophysiology and clinical features of mucopolysaccharidosis, sphingolipidosis and other …
A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency
L Schlotawa, J Preiskorn… - Journal of Inherited …, 2020 - Wiley Online Library
Abstract Multiple Sulfatase Deficiency (MSD, MIM# 272200) is an ultra‐rare lysosomal
storage disorder arising from mutations in the SUMF1 gene, which encodes the …
storage disorder arising from mutations in the SUMF1 gene, which encodes the …
Biochemical signatures of disease severity in multiple sulfatase deficiency
Sulfatases catalyze essential cellular reactions, including degradation of
glycosaminoglycans (GAGs). All sulfatases are post‐translationally activated by the …
glycosaminoglycans (GAGs). All sulfatases are post‐translationally activated by the …
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency
L Schlotawa, K Tyka, M Kettwig… - EMBO Molecular …, 2023 - embopress.org
Multiple sulfatase deficiency (MSD, MIM# 272200) results from pathogenic variants in the
SUMF1 gene that impair proper function of the formylglycine‐generating enzyme (FGE) …
SUMF1 gene that impair proper function of the formylglycine‐generating enzyme (FGE) …
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency
Multiple sulfatase deficiency (MSD) is a severe, lysosomal storage disorder caused by
pathogenic variants in the gene SUMF1, encoding the sulfatase modifying factor …
pathogenic variants in the gene SUMF1, encoding the sulfatase modifying factor …
Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease
LA Adang, L Schlotawa, S Groeschel… - Journal of inherited …, 2020 - Wiley Online Library
Multiple sulfatase deficiency (MSD) is an ultra‐rare neurodegenerative disorder caused by
pathogenic variants in SUMF1. This gene encodes formylglycine‐generating enzyme (FGE) …
pathogenic variants in SUMF1. This gene encodes formylglycine‐generating enzyme (FGE) …
Lysosomal storage diseases
AP Burlina, R Manara, D Gueraldi - Handbook of Clinical Neurology, 2024 - Elsevier
Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by
dysfunction of the lysosomal system, with subsequent progressive accumulation of …
dysfunction of the lysosomal system, with subsequent progressive accumulation of …
[HTML][HTML] Boolean Modeling of Biological Network Applied to Protein–Protein Interaction Network of Autism Patients
L Nezamuldeen, MS Jafri - Biology, 2024 - mdpi.com
Simple Summary Boolean modeling is a graphical analytic approach used for analyzing
qualitative models of biological systems, including protein–protein interaction networks. This …
qualitative models of biological systems, including protein–protein interaction networks. This …
Reliability of the telemedicine application of the Gross Motor Function Measure-88 in patients with leukodystrophy
Background Leukodystrophies are a rare class of disorders characterized by severe
neuromotor disability. There is a strong need for research regarding the functional status of …
neuromotor disability. There is a strong need for research regarding the functional status of …
Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency
Abstract Background Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal
storage disorder characterized by loss of function mutations in the SUMF1 gene that …
storage disorder characterized by loss of function mutations in the SUMF1 gene that …