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Article

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.

PloS one - 1 Jan 2011

Hwang Cheol-Sang, Sukalo Maja, Batygin Olga, Addor Marie-Claude, Brunner Han, Aytes Antonio Perez, Mayerle Julia, Song Hyun Kyu, Varshavsky Alexander, Zenker Martin

Abstract excerpt

BACKGROUND: Johanson-Blizzard syndrome (JBS; OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, facial dysmorphism with the characteristic nasal wing hypoplasia, multiple malformations, and frequent mental retardation. Our previous work has shown that JBS is caused by mutations in human UBR1, which encodes one of the E3 ubiquitin ligases of the N-end rule...

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Identifiers

PMID: 21931868
DOI: 10.1371/journal.pone.0024925
PMCID: PMC3172311

Genes

UBR1

Variants

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.

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Research trail→

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Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.PMID 21931868Read ↗

Mutations in the human UBR1 gene and the associated phenotypic spectrum.Semantic proximity Read ↗

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).Semantic proximity Read ↗

Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.Semantic proximity Read ↗

Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency.Semantic proximity Read ↗

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.Semantic proximity Read ↗

Impaired neurogenesis and cardiovascular development in mice lacking the E3 ubiquitin ligases UBR1 and UBR2 of the N-end rule pathwaySemantic proximity Read ↗

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.Semantic proximity Read ↗

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UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.Semantic proximity Read ↗

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