MODULATING TFEB ACTIVITY IN THE BIRT-HOGG-DUBE'SYNDROME BY TARGETING THE VACUOLAR ATPASE

C Vilardo - 2023 - air.unimi.it
The transcription factor EB (TFEB) is a master regulator of lysosome biogenesis and
autophagy, and its activity is primarily controlled by the kinase complex mTORC1. In the Birt …

Requirement of FLCN tumor suppressor gene for mTORC1-mediated inhibition of TFE3 transcriptional activity

H Li, HB Oh, B Viollet, LS Schmidt, WM Linehan… - bioRxiv, 2020 - biorxiv.org
TFE3 is an oncogenic transcription factor whose subcellular localization and activity are
regulated by post-translational modifications. TFE3 is hyper-phosphorylated in the …

Molecular genetics and clinical features of Birt–Hogg–Dubé syndrome

LS Schmidt, WM Linehan - Nature Reviews Urology, 2015 - nature.com
Abstract Birt–Hogg–Dubé (BHD) syndrome is an inherited renal cancer syndrome in which
affected individuals are at risk of developing benign cutaneous fibrofolliculomas, bilateral …

TFEB and TFE3 drive kidney cystogenesis and tumorigenesis

C Di Malta, A Zampelli, L Granieri, C Vilardo… - EMBO Molecular …, 2023 - embopress.org
Abstract Birt‐Hogg‐Dubé (BHD) syndrome is an inherited familial cancer syndrome
characterized by the development of cutaneous lesions, pulmonary cysts, renal tumors and …

FLCN: the causative gene for Birt-Hogg-Dubé syndrome

LS Schmidt, WM Linehan - Gene, 2018 - Elsevier
Germline mutations in the novel tumor suppressor gene FLCN are responsible for the
autosomal dominant inherited disorder Birt-Hogg-Dubé (BHD) syndrome that predisposes to …

FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation

EA Dunlop, S Seifan, T Claessens, C Behrends… - Autophagy, 2014 - Taylor & Francis
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant condition caused by
mutations in the FLCN gene and characterized by benign hair follicle tumors, pneumothorax …

Folliculin: a regulator of transcription through AMPK and mTOR signaling pathways

JMJ Ramirez Reyes, R Cuesta… - Frontiers in Cell and …, 2021 - frontiersin.org
Folliculin (FLCN) is a tumor suppressor gene responsible for the inherited Birt-Hogg-Dubé
(BHD) syndrome, which affects kidneys, skin and lungs. FLCN is a highly conserved protein …

Characterizing the tumor suppressor activity of FLCN in Birt-Hogg-Dubé syndrome through transcriptiomic and proteomic analysis

A Tee, RA Jones, EA Dunlop, J Champion… - 2024 - researchsquare.com
Abstract Birt-Hogg-Dubé (BHD) syndrome patients are uniquely susceptible to all renal
tumour subtypes. The underlying mechanism of carcinogenesis is unclear. To study cancer …

Nutrient signaling and lysosome positioning crosstalk through a multifunctional protein, folliculin

N de Martín Garrido, CHS Aylett - Frontiers in Cell and …, 2020 - frontiersin.org
FLCN was identified as the gene responsible for Birt-Hogg-Dubé (BHD) syndrome, a
hereditary syndrome associated with the appearance of familiar renal oncocytomas. Most …

Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies

LS Schmidt - Familial cancer, 2013 - Springer
Since the hallmark dermatologic features of Birt–Hogg–Dubé (BHD) syndrome were first
described by three Canadian physicians in 1977, the clinical manifestations of BHD have …