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

Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.

Cell - 20 Sept 2018

Meyer Katrina, Kirchner Marieluise, Uyar Bora, Cheng Jing-Yuan, Russo Giulia, Hernandez-Miranda Luis R, Szymborska Anna, Zauber Henrik, Rudolph Ina-Maria, Willnow Thomas E, Akalin Altuna, Haucke Volker, Gerhardt Holger, Birchmeier Carmen, Kühn Ralf, Krauss Michael, Diecke Sebastian, Pascual Juan M, Selbach Matthias

Abstract excerpt

Many disease-causing missense mutations affect intrinsically disordered regions (IDRs) of proteins, but the molecular mechanism of their pathogenicity is enigmatic. Here, we employ a peptide-based proteomic screen to investigate the impact of mutations in IDRs on protein-protein interactions. We find that mutations in disordered cytosolic regions of three transmembrane proteins (GLUT1, ITPR1, and CACNA1H) lead to...

Read the complete abstract on PubMed

Topics

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

Share to Calcium Channels, T-Type
Share to Carbohydrate Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Clathrin

Share to Glucose Transporter Type 1

Share to Inositol 1,4,5-Trisphosphate Receptors

Share to Intrinsically Disordered Proteins

Share to Leucine

Share to Monosaccharide Transport Proteins

Source

Identifiers

PMID: 30197081
DOI: 10.1016/j.cell.2018.08.019

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.PMID 30197081Read ↗

Mutations in disordered regions cause disease by creating endocytosis motifsSemantic proximity Read ↗

Disease mutations in disordered regions--exception to the rule?Semantic proximity Read ↗

Mutations in transmembrane proteins: diseases, evolutionary insights, prediction and comparison with globular proteinsSemantic proximity Read ↗

A proteome-wide screen for membrane-interactions in intrinsically disordered regions of transmembrane proteins reveals a role in diseaseSemantic proximity Read ↗

A proteome-wide screen for membrane-interactions in intrinsically disordered regions of transmembrane proteins reveals a role in diseaseSemantic proximity Read ↗

Mapping pathogenic patterns in membrane transporters from the GLUT transporter familySemantic proximity Read ↗

Pathogenic mutations of human phosphorylation sites affect protein-protein interactions.Semantic proximity Read ↗

Pervasive mislocalization of pathogenic coding variants underlying human disordersSemantic proximity Read ↗

Pathogenic missense variants in SLC2A1 (GLUT1) misroute to lysosomes in endothelial cells: insights into molecular pathology of GLUT1 deficiencySemantic proximity Read ↗

Tryptophan mutations in G3BP1 tune the stability of a cellular signaling hub by weakening transient interactions with Caprin1 and USP10.Semantic proximity Read ↗

Pathogenic mutations of human phosphorylation sites affect protein-protein interactionsSemantic proximity Read ↗

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.Semantic proximity Read ↗

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