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 …

Expanded diversity of Asgard archaea and their relationships with eukaryotes

Y Liu, KS Makarova, WC Huang, YI Wolf… - Nature, 2021 - nature.com
Asgard is a recently discovered superphylum of archaea that appears to include the closest
archaeal relatives of eukaryotes,,,–. Debate continues as to whether the archaeal ancestor …

Lysosomal positioning diseases: beyond substrate storage

G Scerra, V De Pasquale, M Scarcella… - Open …, 2022 - royalsocietypublishing.org
Lysosomal storage diseases (LSDs) comprise a group of inherited monogenic disorders
characterized by lysosomal dysfunctions due to undegraded substrate accumulation. They …

Lysosomal positioning regulates Rab10 phosphorylation at LRRK2+ lysosomes

JH Kluss, A Beilina, CD Williamson… - Proceedings of the …, 2022 - National Acad Sciences
Genetic variation at the leucine-rich repeat kinase 2 (LRRK2) locus contributes to an
enhanced risk of familial and sporadic Parkinson's disease. Previous data have …

[HTML][HTML] Unveiling the impact of lysosomal ion channels: balancing ion signaling and disease pathogenesis

Y Jung, W Kim, NK Shin, YM Bae… - The Korean Journal of …, 2023 - synapse.koreamed.org
Ion homeostasis, which is regulated by ion channels, is crucial for intracellular signaling.
These channels are involved in diverse signaling pathways, including cell proliferation …

Folliculin prevents lysosomal degradation of human papillomavirus to support infectious cell entry

Y Ishii, T Yamaji, T Sekizuka, Y Homma, S Mori… - Journal of …, 2023 - Am Soc Microbiol
Human papillomavirus (HPV) infects epithelial basal cells in the mucosa and either
proliferates with the differentiation of the basal cells or persists in them. Multiple host factors …

Genetic alterations in renal cancers: Identification of the mechanisms underlying cancer initiation and progression and of therapeutic targets

U Testa, E Pelosi, G Castelli - Medicines, 2020 - mdpi.com
Renal cell cancer (RCC) involves three most recurrent sporadic types: clear-cell RCC (70–
75%, CCRCC), papillary RCCC (10–15%, PRCC), and chromophobe RCC (5%, CHRCC) …

Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics

JL Rodriguez-Gil, LL Baxter… - Human Molecular …, 2021 - academic.oup.com
The rare, fatal neurodegenerative disorder Niemann-Pick disease type C1 (NPC1) arises
from lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These …

[HTML][HTML] FNIP1: A key regulator of mitochondrial function

F Zeng, J Cao, W Li, Y Zhou, X Yuan - Biomedicine & Pharmacotherapy, 2024 - Elsevier
Abstract Folliculin interacting protein 1 (FNIP1), a novel folliculin interacting protein 1, is a
key regulatory factor for mitochondrial function. FNIP1 mainly responds to energy signal …

Delayed diagnosis of Birt-Hogg-Dubé syndrome might be aggravated by gender bias

OK Steinlein, M Reithmair, Z Syunyaeva… - EClinicalMedicine, 2022 - thelancet.com
Summary Background Birt-Hogg-Dubé syndrome is a rare genetic tumor syndrome
characterized by renal cell cancer, lung bullae, pneumothorax, and fibrofolliculoma. Patients …