Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

doi:10.1086/508294

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

Community

Back to search

Article

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

American journal of human genetics - 1 Nov 2006

Hrebícek Martin, Mrázová Lenka, Seyrantepe Volkan, Durand Stéphanie, Roslin Nicole M, Nosková Lenka, Hartmannová Hana, Ivánek Robert, Cízkova Alena, Poupetová Helena, Sikora Jakub, Urinovská Jana, Stranecký Viktor, Zeman Jirí, Lepage Pierre, Roquis David, Verner Andrei, Ausseil Jérome, Beesley Clare E, Maire Irène, Poorthuis Ben J H M, van de Kamp Jiddeke, van Diggelen Otto P, Wevers Ron A, Hudson Thomas J, Fujiwara T Mary, Majewski Jacek, Morgan Kenneth, Kmoch Stanislav, Pshezhetsky Alexey V

Abstract excerpt

Mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited deficiency of the lysosomal membrane enzyme acetyl-coenzyme A: alpha -glucosaminide N-acetyltransferase (N-acetyltransferase), which leads to impaired degradation of heparan sul...

Read the complete abstract on PubMed

Topics

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

Share to Acetyltransferases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 8

Share to Cloning, Molecular

Share to DNA, Complementary

Share to Mucopolysaccharidosis III

Share to Recombinant Fusion Proteins

Share to Sequence Homology, Amino Acid

Share to Transfection

Source

Open in PubMed Open full text

Identifiers

PMID: 17033958
DOI: 10.1086/508294
PMCID: PMC1698556

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17033958-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).PMID 17033958Read ↗

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.Semantic proximity Read ↗

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.Semantic proximity Read ↗

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).Semantic proximity Read ↗

Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature Review.Semantic proximity Read ↗

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).Semantic proximity Read ↗

Structural and mechanistic insights into a lysosomal membrane enzyme HGSNAT involved in Sanfilippo syndrome.Semantic proximity Read ↗

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.Semantic proximity Read ↗

Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.Semantic proximity Read ↗

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylationSemantic proximity Read ↗

Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.Semantic proximity Read ↗

Structure of the human heparan-α-glucosaminide <i>N</i> -acetyltransferase (HGSNAT)Semantic proximity Read ↗

Structure of the human heparan-α-glucosaminide N-acetyltransferase (HGSNAT).Semantic proximity Read ↗

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