Back to search

Article

Identification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7

2025-02-04

Abstract excerpt

Commander is an endosome associated sixteen protein assembly that associates with the sorting nexin 17 (SNX17) cargo adaptor to regulate cell surface recycling of internalised integral membrane proteins including integrins and lipoprotein receptors. Mutations in Commander are causative for Ritscher-Schinzel syndrome (RSS), a multiorgan developmental disease associated with a core triad of cerebellar-cardiac-cranio...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
250da25a-7f03-5a59-a3e8-7d73838f9201
DOI
10.1101/2025.02.04.636395
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Identification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7DOI 10.1101/2025.02.04.636395
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.Semantic proximity
A cargo receptor entrapment complex is a therapeutic node for genetically and clinically distinct proteinopathiesSemantic proximity
Spontaneous mutant in threespine stickleback connects endosome trafficking disorders and inflammatory bowel diseases via changes in the gut microbiomeSemantic proximity
The road to lysosome‐related organelles: Insights from Hermansky‐Pudlak syndrome and other rare diseasesSemantic proximity
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.Semantic proximity
Sorting Out Sorting Nexins Functions in the Nervous System in Health and DiseaseSemantic proximity
Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.Semantic proximity
The involvement of the ER-phagy receptor FAM134B in membrane contact sites between ER and endolysosomes promotes ERLADSemantic proximity
The roles of Rab27 and its effectors in the regulated secretory pathways.Semantic proximity
Structure of the Commander endosomal trafficking complex linked to X-linked intellectual disability/Ritscher-Schinzel syndromeSemantic proximity
Functional role of UNC13D in immune diseases and its therapeutic applicationsSemantic proximity
On the cusp of cures: Breakthroughs in Batten disease research.Semantic proximity
Select a neighboring publication to make it the new centre.