Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification

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

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

(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

Case of Multiple Sulfatase Deficiency and Ocular Albinism: A Diagnostic Odyssey

(2014) Chitra Prasad et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

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

Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients

(2010) Tohru Yutaka et al.   CLINICAL GENETICS

Multiple sulphatase deficiency presenting at birth

(2010) M. Burch et al.   CLINICAL GENETICS

Sulfatase modifying factor 1–mediated fibroblast growth factor signaling primes hematopoietic multilineage development

(2010) Mario Buono et al.   JOURNAL OF CELL BIOLOGY

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins

(2008) Thomas Dierks et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Paralog of the formylglycine-generating enzyme - retention in the endoplasmic reticulum by canonical and noncanonical signals

(2008) Santosh Lakshmi Gande et al.   FEBS Journal

Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44

(2008) Alessandro Fraldi et al.   HUMAN MOLECULAR GENETICS

The Non-catalytic N-terminal Extension of Formylglycine-generating Enzyme Is Required for Its Biological Activity and Retention in the Endoplasmic Reticulum

(2008) Malaiyalam Mariappan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY