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Article

Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.

Human molecular genetics - 15 Dec 2003

Huber Tobias B, Simons Matias, Hartleben Björn, Sernetz Leonie, Schmidts Miriam, Gundlach Enken, Saleem Moin A, Walz Gerd, Benzing Thomas

Abstract excerpt

Hereditary nephrotic syndrome is a heterogeneous disease, characterized by heavy proteinuria and renal failure. Mutations of NPHS1 or NPHS2, the genes encoding for nephrin and podocin, lead to early onset of heavy proteinuria, and rapid progression to end-stage renal disease, suggesting that both...

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Source

Identifiers

PMID: 14570703
DOI: 10.1093/hmg/ddg360

Genes

NPHS2
NPHS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14570703-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.PMID 14570703Read ↗

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.Semantic proximity Read ↗

In silico Structural characterization of podocin and assessment of nephrotic syndrome-associated podocin mutants.Semantic proximity Read ↗

A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome.Semantic proximity Read ↗

Interaction with Podocin Facilitates Nephrin SignalingSemantic proximity Read ↗

Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.Semantic proximity Read ↗

Nephrin Signaling in the Podocyte: An Updated View of Signal Regulation at the Slit Diaphragm and BeyondSemantic proximity Read ↗

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.Semantic proximity Read ↗

Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.Semantic proximity Read ↗

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndromeSemantic proximity Read ↗

A novel domain regulating degradation of the glomerular slit diaphragm protein podocin in cell culture systems.Semantic proximity Read ↗

Foothold of NPHS2 mutations in primary nephrotic syndrome.Semantic proximity Read ↗

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