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Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregola J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, Gärtner J. Schlotawa L, et al. EMBO Mol Med. 2023 Mar 8;15(3):e14837. doi: 10.15252/emmm.202114837. Epub 2023 Feb 15. EMBO Mol Med. 2023. PMID: 36789546 Free PMC article.
Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine-generating enzyme (FGE). ...
Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper …
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC. Schlotawa L, et al. Int J Mol Sci. 2020 May 13;21(10):3448. doi: 10.3390/ijms21103448. Int J Mol Sci. 2020. PMID: 32414121 Free PMC article. Review.
Multiple sulfatase deficiency (MSD, MIM #272200) is an ultra-rare disease comprising pathophysiology and clinical features of mucopolysaccharidosis, sphingolipidosis and other sulfatase deficiencies. ...
Multiple sulfatase deficiency (MSD, MIM #272200) is an ultra-rare disease comprising pathophysiology and clinical featu …
Diagnosing mucopolysaccharidosis IVA.
Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Wood TC, et al. J Inherit Metab Dis. 2013 Mar;36(2):293-307. doi: 10.1007/s10545-013-9587-1. Epub 2013 Feb 1. J Inherit Metab Dis. 2013. PMID: 23371450 Free PMC article.
Additional analyses to confirm sample integrity and rule out MPS IVB, multiple sulfatase deficiency, and mucolipidoses types II/III are critical as part of enzyme activity testing. ...
Additional analyses to confirm sample integrity and rule out MPS IVB, multiple sulfatase deficiency, and mucolipidoses …
A systematic cross-sectional survey of multiple sulfatase deficiency.
Cappuccio G, Alagia M, Brunetti-Pierri N. Cappuccio G, et al. Mol Genet Metab. 2020 Aug;130(4):283-288. doi: 10.1016/j.ymgme.2020.06.005. Epub 2020 Jun 17. Mol Genet Metab. 2020. PMID: 32620537
Multiple Sulfatase Deficiency (MSD) is an inborn error of metabolism caused by pathogenic variants in the SUMF1 gene encoding the formylglycine-generating enzyme (FGE) that activates all known sulfatases. ...
Multiple Sulfatase Deficiency (MSD) is an inborn error of metabolism caused by pathogenic variants in the SUMF1 gene en …
Sulfatases and human disease.
Diez-Roux G, Ballabio A. Diez-Roux G, et al. Annu Rev Genomics Hum Genet. 2005;6:355-79. doi: 10.1146/annurev.genom.6.080604.162334. Annu Rev Genomics Hum Genet. 2005. PMID: 16124866 Review.
Sulfatase activity requires a unique posttranslational modification, which is impaired in patients with multiple sulfatase deficiency (MSD) due to a mutation of the sulfatase modifying factor 1 (SUMF1). ...
Sulfatase activity requires a unique posttranslational modification, which is impaired in patients with multiple sulfatase …
Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.
Hijazi L, Kashgari A, Alfadhel M. Hijazi L, et al. J Child Neurol. 2018 Nov;33(13):820-824. doi: 10.1177/0883073818790851. Epub 2018 Aug 20. J Child Neurol. 2018. PMID: 30124108
Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene. ...The most common characteristics are developmental …
Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine …
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gärtner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Adang LA, et al. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20. J Inherit Metab Dis. 2020. PMID: 32749716 Free PMC article.
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder caused by pathogenic variants in SUMF1. ...
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder caused by pathogenic variants in SUMF1. …
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
Sorrentino NC, Presa M, Attanasio S, Cacace V, Sofia M, Zuberi A, Ryan J, Ray S, Petkovic I, Radhakrishnan K, Schlotawa L, Ballabio A, Lutz C, Brunetti-Pierri N. Sorrentino NC, et al. J Inherit Metab Dis. 2023 Mar;46(2):335-347. doi: 10.1002/jimd.12577. Epub 2022 Dec 11. J Inherit Metab Dis. 2023. PMID: 36433920 Free PMC article.
Multiple sulfatase deficiency (MSD) is an ultrarare lysosomal storage disorder due to deficiency of all known sulfatases. ...
Multiple sulfatase deficiency (MSD) is an ultrarare lysosomal storage disorder due to deficiency of all known sulfatase …
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gärtner J. Schlotawa L, et al. Hum Mutat. 2008 Jan;29(1):205. doi: 10.1002/humu.9515. Hum Mutat. 2008. PMID: 18157819
Multiple Sulfatase Deficiency (MSD) is a rare inborn autosomal-recessive disorder, which mainly combines clinical features of metachromatic leukodystrophy, mucopolysaccharidosis and X-linked ichthyosis. ...
Multiple Sulfatase Deficiency (MSD) is a rare inborn autosomal-recessive disorder, which mainly combines clinical featu …
Biochemical signatures of disease severity in multiple sulfatase deficiency.
Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC. Adang LA, et al. J Inherit Metab Dis. 2024 Mar;47(2):374-386. doi: 10.1002/jimd.12688. Epub 2023 Nov 1. J Inherit Metab Dis. 2024. PMID: 37870986
All sulfatases are post-translationally activated by the formylglycine generating enzyme (FGE) which is deficient in multiple sulfatase deficiency (MSD), a neurodegenerative lysosomal storage disease. ...
All sulfatases are post-translationally activated by the formylglycine generating enzyme (FGE) which is deficient in multiple sulf …
56 results