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

Disease-related myotubularins function in endocytic traffic in Caenorhabditis elegans.

Molecular biology of the cell - 1 Jan 2004

Dang Hope, Li Zhai, Skolnik Edward Y, Fares Hanna

Abstract excerpt

MTM1, MTMR2, and SBF2 belong to a family of proteins called the myotubularins. X-linked myotubular myopathy, a severe congenital disorder characterized by hypotonia and generalized muscle weakness in newborn males, is caused by mutations in MTM1 (Laporte et al., 1996). Charcot-Marie-Tooth types 4B1 and 4B2 are severe demyelinating neuropathies caused by mutations in MTMR2 (Bolino et al., 2000) and SBF2/MTMR13...

Read the complete abstract on PubMed

Topics

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

Share to ADP-Ribosylation Factor 6
Share to ADP-Ribosylation Factors
Share to Endocytosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Luminescent Proteins

Share to Phosphatidylinositols

Share to Phosphoric Monoester Hydrolases

Share to Protein Tyrosine Phosphatases

Share to Protein Tyrosine Phosphatases, Non-Receptor

Source

Open in PubMed Open full text

Identifiers

PMID: 14565969
DOI: 10.1091/mbc.e03-08-0605
PMCID: PMC307539

Genes

MTM1
MTMR2
SBF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Disease-related myotubularins function in endocytic traffic in Caenorhabditis elegans.PMID 14565969Read ↗

Genetic analysis of the myotubularin family of phosphatases in Caenorhabditis elegans.Semantic proximity Read ↗

The phosphoinositide phosphatase MTM-1 regulates apoptotic cell corpse clearance through CED-5-CED-12 in C. elegans.Semantic proximity Read ↗

Caenorhabditis elegans RME-6 is a novel regulator of RAB-5 at the clathrin-coated pit.Semantic proximity Read ↗

Overlapping expression patterns and functions of three paralogous P5B ATPases in Caenorhabditis elegans.Semantic proximity Read ↗

Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelinationSemantic proximity Read ↗

ATP binding regulates oligomerization and endosome association of RME-1 family proteins.Semantic proximity Read ↗

Analysis of phosphoinositide binding domain properties within the myotubularin-related protein MTMR3.Semantic proximity Read ↗

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.Semantic proximity Read ↗

Interplay between myotubularins and Ca2+ homeostasis.Semantic proximity Read ↗

C. elegans SMA-10 regulates BMP receptor trafficking.Semantic proximity Read ↗

PI(3)P regulates mitochondrial dynamics through FGD-dependent actin organization.Semantic proximity Read ↗

Phosphatidylinositol 3-phosphatase myotubularin-related protein 6 (MTMR6) is regulated by small GTPase Rab1B in the early secretory and autophagic pathways.Semantic proximity Read ↗

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