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

Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease.

Disease models & mechanisms - 1 Jun 2023

Schaeffer Céline, De Fusco Maurizio, Pasqualetto Elena, Scolari Caterina, Izzi Claudia, Scolari Francesco, Rampoldi Luca

Abstract excerpt

Autosomal dominant tubulointerstitial kidney disease (ADTKD), a rare genetic disorder characterised by progressive chronic kidney disease, is caused by mutations in different genes, including REN, encoding renin. Renin is a secreted protease composed of three domains: the leader peptide that allows insertion in the endoplasmic reticulum (ER), a pro-segment regulating its activity, and the mature part of the...

Read the complete abstract on PubMed

Topics

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

Share to Kidney Diseases
Share to Mitochondria

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Protein Sorting Signals

Source

Open in PubMed Open full text

Identifiers

PMID: 37283036
DOI: 10.1242/dmm.049963
PMCID: PMC10259838

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease.PMID 37283036Read ↗

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature ProteinSemantic proximity Read ↗

Case-inspired exploration of renin mutations in autosomal dominant tubulointerstitial kidney disease: not all paths lead to the endoplasmic reticulum.Semantic proximity Read ↗

A Case-Inspired Exploration of Renin Mutations in Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD): Not All Paths Lead to the ER.Semantic proximity Read ↗

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.Semantic proximity Read ↗

The role of individual domains and the significance of shedding of ATP6AP2/(pro)renin receptor in vacuolar H(+)-ATPase biogenesis.Semantic proximity Read ↗

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.Semantic proximity Read ↗

Protein trafficking defects in inherited kidney diseases.Semantic proximity Read ↗

[Renal tubular dysgenesis and mutations in the renin-angiotensin system genes].Semantic proximity Read ↗

APOL1 Kidney Risk Variants Induce Cell Death via Mitochondrial Translocation and Opening of the Mitochondrial Permeability Transition Pore.Semantic proximity Read ↗

Targetable NOTCH1 rearrangements in reninomaSemantic proximity Read ↗

Biogenesis and cytotoxicity of APOL1 renal risk variant proteins in hepatocytes and hepatoma cells.Semantic proximity Read ↗

Novel functional complexity of polycystin-1 by GPS cleavage in vivo: role in polycystic kidney disease.Semantic proximity Read ↗

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