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

The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity.

The Journal of biological chemistry - 8 Oct 2004

Ichimiya Tomomi, Manya Hiroshi, Ohmae Yoshiko, Yoshida Hideki, Takahashi Kuniaki, Ueda Ryu, Endo Tamao, Nishihara Shoko

Abstract excerpt

Walker-Warburg syndrome, caused by mutations in protein O-mannosyltransferase-1 (POMT1), is an autosomal recessive disorder characterized by severe brain malformation, muscular dystrophy, and structural eye abnormalities. As humans have a second POMT, POMT2, we cloned each Drosophila ortholog of the human POMT genes and carried out RNA interference (RNAi) knock-down to investigate the function of these proteins...

Read the complete abstract on PubMed

Topics

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

Share to Antibodies
Share to Dystroglycans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Vectors

Share to Glutathione Transferase

Share to Insecta

Share to Intracellular Membranes

Share to Mannosyltransferases

Share to Microsomes

Source

Identifiers

PMID: 15271988
DOI: 10.1074/jbc.M404900200

Genes

POMT2
POMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity.PMID 15271988Read ↗

The twisted gene encodes Drosophila protein O-mannosyltransferase 2 and genetically interacts with the rotated abdomen gene encoding Drosophila protein O-mannosyltransferase 1.Semantic proximity Read ↗

Physical and functional association of human protein O-mannosyltransferases 1 and 2.Semantic proximity Read ↗

Increased Apoptosis of Myoblasts in Drosophila Model for the Walker-Warburg SyndromeSemantic proximity Read ↗

Protein O-Mannosyltransferases Affect Sensory Axon Wiring and Dynamic Chirality of Body Posture in the Drosophila Embryo.Semantic proximity Read ↗

Dystroglycan and protein O-mannosyltransferases 1 and 2 are required to maintain integrity of Drosophila larval muscles.Semantic proximity Read ↗

Mutations of the POMT1 gene found in patients with Walker–Warburg syndrome lead to a defect of protein O-mannosylationSemantic proximity Read ↗

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.Semantic proximity Read ↗

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.Semantic proximity Read ↗

Identification of a Human Homolog of the Drosophila rotated abdomen Gene (POMT1) Encoding a Putative Protein O-Mannosyl-Transferase, and Assignment to Human Chromosome 9q34.1Semantic proximity Read ↗

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.Semantic proximity Read ↗

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.Semantic proximity Read ↗

Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.Semantic proximity Read ↗

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