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

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.

Journal of inherited metabolic disease - 1 Mar 2018

Mayr Simon Julius, Sass Jörn Oliver, Vry Julia, Kirschner Janbernd, Mader Irina, Hövener Jan-Bernd, Reiss Jochen, Santamaria-Araujo José Angel, Schwarz Günter, Grünert Sarah Catharina

Abstract excerpt

Molybdenum cofactor deficiency is an autosomal recessive inborn error of metabolism, which results from mutations in genes involved in Moco biosynthesis. Moco serves as a cofactor of several enzymes, including sulfite oxidase. MoCD is clinically characterized by intractable seizures and severe, rapidly progressing neurodegeneration leading to death in early childhood in the majority of known cases. Here we report...

Read the complete abstract on PubMed

Topics

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

Share to Carbon-Carbon Lyases
Share to Coenzymes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diet, Protein-Restricted

Share to Frameshift Mutation

Share to Metalloproteins

Share to Molybdenum Cofactors

Share to Peptide Fragments

Share to Pteridines

Source

Identifiers

PMID: 29368224
DOI: 10.1007/s10545-018-0138-7

Genes

MOCS1

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

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.PMID 29368224Read ↗

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.Semantic proximity Read ↗

Novel Pathogenic Variant in a Mild Case of Type B Molybdenum Cofactor Deficiency: Case Report and Literature ReviewSemantic proximity Read ↗

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.Semantic proximity Read ↗

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.Semantic proximity Read ↗

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.Semantic proximity Read ↗

Two mild phenotype molybdenum cofactor deficiency patients with novel MOCS2 mutation and immunological treatment after COVID-19 infection.Semantic proximity Read ↗

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.Semantic proximity Read ↗

Two Mild Phenotype Molybdenum Cofactor Deficiency Patients with Novel MOCS2 Mutation and Immunological Treatment after COVID-19 InfectionSemantic proximity Read ↗

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.Semantic proximity Read ↗

A Turkish case with molybdenum cofactor deficiency.Semantic proximity Read ↗

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.Semantic proximity Read ↗

[Molybdenum cofactor deficiency caused by MOCS1 gene mutation: a case report].Semantic proximity Read ↗

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