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

Functional study of SCCD pathogenic gene UBIAD1 (Review).

Molecular medicine reports - 1 Oct 2021

Xie Jumin, Li Lingxing

Abstract excerpt

Schnyder's crystalline corneal dystrophy (SCCD) is a rare autosomal dominant genetic disorder that is characterized by progressive corneal opacity, owing to aberrant accumulation of cholesterol and phospholipids in the cornea. A number of SCCD affected families have been reported in the world since 1924, when it was first described. In 2007, the molecular basis of SCCD was demonstrated to be associated with a...

Read the complete abstract on PubMed

Topics

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

Share to Cholesterol
Share to Cornea
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum

Share to Genes, Tumor Suppressor

Share to Genetic Predisposition to Disease

Share to Polyisoprenyl Phosphates

Share to Vitamin K 2

Source

Open in PubMed Open full text

Identifiers

PMID: 34368857
DOI: 10.3892/mmr.2021.12345
PMCID: PMC8365407

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional study of SCCD pathogenic gene UBIAD1 (Review).PMID 34368857Read ↗

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein functionSemantic proximity Read ↗

The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.Semantic proximity Read ↗

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductase.Semantic proximity Read ↗

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.Semantic proximity Read ↗

UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.Semantic proximity Read ↗

A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.Semantic proximity Read ↗

Structural basis for the HMGCR interaction with UBIAD1 mutants causing Schnyder corneal dystrophySemantic proximity Read ↗

In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy.Semantic proximity Read ↗

Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation.Semantic proximity Read ↗

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