Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.

The Biochemical journal - 15 Apr 2007

Fraldi Alessandro, Biffi Alessandra, Lombardi Alessia, Visigalli Ilaria, Pepe Stefano, Settembre Carmine, Nusco Edoardo, Auricchio Alberto, Naldini Luigi, Ballabio Andrea, Cosma Maria Pia

Abstract excerpt

Sulfatases are enzymes that hydrolyse a diverse range of sulfate esters. Deficiency of lysosomal sulfatases leads to human diseases characterized by the accumulation of either GAGs (glycosaminoglycans) or sulfolipids. The catalytic activity of sulfatases resides in a unique formylglycine residue in their active site generated by the post-translational modification of a highly conserved cysteine residue. This...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenoviridae
Share to Cysteine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Isoenzymes

Share to Lentivirus

Share to Muscles

Share to Oxidoreductases Acting on Sulfur Group Donors

Share to Protein Transport

Share to Sulfatases

Source

Open in PubMed Open full text

Identifiers

PMID: 17206939
DOI: 10.1042/BJ20061783
PMCID: PMC1874239

Genes

SUMF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.PMID 17206939Read ↗

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase DeficiencySemantic proximity Read ↗

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.Semantic proximity Read ↗

Multiple sulfatase deficiency is due to hypomorphic mutations of theSUMF1 geneSemantic proximity Read ↗

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.Semantic proximity Read ↗

Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiencySemantic proximity Read ↗

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.Semantic proximity Read ↗

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.Semantic proximity Read ↗

Sulfatases and human disease.Semantic proximity Read ↗

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.Semantic proximity Read ↗

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.Semantic proximity Read ↗

[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].Semantic proximity Read ↗

Efficacy of a Combined Intracerebral and Systemic Gene Delivery Approach for the Treatment of a Severe Lysosomal Storage DisorderSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.