Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C (Q24323014)

GOA release 2020-03-11

unfolded protein binding

1 reference

GOA release 2020-03-11

Transmembrane protein 67

1 reference

GOA release 2020-03-11

author name string

Mei Wang

1

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James P Bridges

2

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Cheng-Lun Na

3

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Yan Xu

4

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Timothy E Weaver

Journal of Biological Chemistry

5

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language of work or name

English

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publication date

27 November 2009

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published in

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volume

284

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page(s)

33377-83

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issue

48

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cites work

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ERdj4 and ERdj5 are required for endoplasmic reticulum-associated protein degradation of misfolded surfactant protein C

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The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

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The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

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A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation

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Membrane-bound Ubx2 recruits Cdc48 to ubiquitin ligases and their substrates to ensure efficient ER-associated protein degradation

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Alterations in SP-B and SP-C expression in neonatal lung disease

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Plasma cell differentiation and the unfolded protein response intersect at the transcription factor XBP-1

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TAZ promotes PC2 degradation through a SCFbeta-Trcp E3 ligase complex

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XBP-1 Regulates a Subset of Endoplasmic Reticulum Resident Chaperone Genes in the Unfolded Protein Response

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MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

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27 September 2017

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Deletion of exon 4 from human surfactant protein C results in aggresome formation and generation of a dominant negative

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21 January 2018

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Rho family GTPases cooperate with p53 deletion to promote primary mouse embryonic fibroblast cell invasion.

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Neonatal respiratory failure associated with mutation in the surfactant protein C gene.

21 January 2018

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Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis.

21 January 2018

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