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Article

Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation.

PloS one - 1 Jan 2018

Centini Ryan, Tsang Mark, Iwata Terri, Park Heon, Delrow Jeffrey, Margineantu Daciana, Iritani Brandon M, Gu Haiwei, Liggitt H Denny, Kang Janella, Kang Lim, Hockenbery David M, Raftery Daniel, Iritani Brian M

Abstract excerpt

Birt-Hogg-Dube' Syndrome (BHDS) is a rare genetic disorder in humans characterized by skin hamartomas, lung cysts, pneumothorax, and increased risk of renal tumors. BHDS is caused by mutations in the BHD gene, which encodes for Folliculin, a cytoplasmic adapter protein that binds to Folliculin interacting proteins-1 and -2 (Fnip1, Fnip2) as well as the master energy sensor AMP kinase (AMPK). Whereas...

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Identifiers

PMID: 29897930
DOI: 10.1371/journal.pone.0197973
PMCID: PMC5999084

Genes

TSC1

Provenance

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Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation.PMID 29897930Read ↗

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