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Article

Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability.

The Journal of biological chemistry - 26 Oct 2012

Mockel Anais, Obringer Cathy, Hakvoort Theodorus B M, Seeliger Mathias, Lamers Wouter H, Stoetzel Corinne, Dollfus Hélène, Marion Vincent

Abstract excerpt

Ciliopathies, a class of rare genetic disorders, present often with retinal degeneration caused by protein transport defects between the inner segment and the outer segment of the photoreceptors. Bardet-Biedl syndrome is one such ciliopathy, genetically heterogeneous with 17 BBS genes identified...

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Identifiers

PMID: 22869374
DOI: 10.1074/jbc.M112.386821
PMCID: PMC3481343

Genes

BBS12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22869374-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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