Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification
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Title
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification
Authors
Keywords
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Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 21, Issue 10, Pages 3448
Publisher
MDPI AG
Online
2020-05-14
DOI
10.3390/ijms21103448
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Note: Only part of the references are listed.- Formylglycine-generating enzyme binds substrate directly at a mononuclear Cu(I) center to initiate O2activation
- (2019) Mason J. Appel et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2018) Rebecca Ahrens-Nicklas et al. MOLECULAR GENETICS AND METABOLISM
- Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase
- (2018) Lars Schlotawa et al. Cell Reports
- Lysosomal storage diseases
- (2018) Frances M. Platt et al. Nature Reviews Disease Primers
- Building the patient community
- (2017) F Raffai et al. GENE THERAPY
- Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency
- (2017) D. Meshach Paul et al. JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
- Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease
- (2017) Ilona Jaszczuk et al. MOLECULAR GENETICS AND METABOLISM
- Reconstitution of Formylglycine-generating Enzyme with Copper(II) for Aldehyde Tag Conversion
- (2015) Patrick G. Holder et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency
- (2015) Frédérique Sabourdy et al. Orphanet Journal of Rare Diseases
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- A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder
- (2014) Lisa B. Frankel et al. Nature Communications
- Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency
- (2013) Lars Schlotawa et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Practical Aspects of Recruitment and Retention in Clinical Trials of Rare Genetic Diseases: The Phenylketonuria (PKU) Experience
- (2013) Stephanie J. DeWard et al. Journal of Genetic Counseling
- Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder
- (2013) Chiara di Malta et al. MOLECULAR GENETICS AND METABOLISM
- SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency
- (2011) Lars Schlotawa et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Efficacy of a Combined Intracerebral and Systemic Gene Delivery Approach for the Treatment of a Severe Lysosomal Storage Disorder
- (2011) Carmine Spampanato et al. MOLECULAR THERAPY
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