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https://www.readbyqxmd.com/read/29897930/loss-of-fnip1-alters-kidney-developmental-transcriptional-program-and-synergizes-with-tsc1-loss-to-promote-mtorc1-activation-and-renal-cyst-formation
#1
Ryan Centini, Mark Tsang, Terri Iwata, Heon Park, Jeffrey Delrow, Daciana Margineantu, Brandon M Iritani, Haiwei Gu, H Denny Liggitt, Janella Kang, Lim Kang, David M Hockenbery, Daniel Raftery, Brian M Iritani
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 kidney-specific deletion of the Bhd gene in mice is known to result in polycystic kidney disease (PKD) and renal cell carcinoma, the roles of Fnip1 in renal cell development and function are unclear...
2018: PloS One
https://www.readbyqxmd.com/read/29848618/gator1-dependent-recruitment-of-flcn-fnip-to-lysosomes-coordinates-rag-gtpase-heterodimer-nucleotide-status-in-response-to-amino-acids
#2
Jin Meng, Shawn M Ferguson
Folliculin (FLCN) is a tumor suppressor that coordinates cellular responses to changes in amino acid availability via regulation of the Rag guanosine triphosphatases. FLCN is recruited to lysosomes during amino acid starvation, where it interacts with RagA/B as a heterodimeric complex with FLCN-interacting proteins (FNIPs). The FLCN-FNIP heterodimer also has GTPase-activating protein (GAP) activity toward RagC/D. These properties raised two important questions. First, how is amino acid availability sensed to regulate lysosomal abundance of FLCN? Second, what is the relationship between FLCN lysosome localization, RagA/B interactions, and RagC/D GAP activity? In this study, we show that RagA/B nucleotide status determines the FLCN-FNIP1 recruitment to lysosomes...
May 30, 2018: Journal of Cell Biology
https://www.readbyqxmd.com/read/29774133/sporadic-renal-angiomyolipoma-in-a-patient-with-birt-hogg-dub%C3%A3-chaperones-in-pathogenesis
#3
Rebecca A Sager, Mark R Woodford, Oleg Shapiro, Mehdi Mollapour, Gennady Bratslavsky
Birt-Hogg-Dubé (BHD) is an autosomal dominant genetic syndrome caused by germline mutations in the FLCN gene that predisposes patients to develop renal tumors. Renal angiomyolipoma (AML) is not a renal tumor sub-type associated with BHD. AML is, however, a common phenotypic manifestation of Tuberous Sclerosis Complex (TSC) syndrome caused by mutations in either the TSC1 or TSC2 tumor suppressor genes. Previous case reports of renal AML in patients with BHD have speculated on the molecular and clinical overlap of these two syndromes as a result of described involvement of the gene products in the mTOR pathway...
April 24, 2018: Oncotarget
https://www.readbyqxmd.com/read/29029362/altered-tdp-43-dependent-splicing-in-hspb8-related-distal-hereditary-motor-neuropathy-and-myofibrillar-myopathy
#4
A Cortese, M Laurà, C Casali, I Nishino, Y K Hayashi, S Magri, F Taroni, C Stuani, P Saveri, M Moggio, M Ripolone, A Prelle, C Pisciotta, A Sagnelli, A Pichiecchio, M M Reilly, E Buratti, D Pareyson
BACKGROUND AND PURPOSE: Mutations in the small heat-shock protein 22 gene (HSPB8) have been associated with Charcot-Marie-Tooth disease type 2L, distal hereditary motor neuropathy (dHMN) type IIa and, more recently, distal myopathy/myofibrillar myopathy (MFM) with protein aggregates and TDP-43 inclusions. The aim was to report a novel family with HSPB8K141E -related dHMN/MFM and to investigate, in a patient muscle biopsy, whether the presence of protein aggregates was paralleled by altered TDP-43 function...
January 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28970150/flcn-the-causative-gene-for-birt-hogg-dub%C3%A3-syndrome
#5
REVIEW
Laura S Schmidt, W Marston Linehan
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 fibrofolliculomas, lung cysts and spontaneous pneumothorax, and an increased risk for developing kidney tumors. Although the encoded protein, folliculin (FLCN), has no sequence homology to known functional domains, x-ray crystallographic studies have shown that the C-terminus of FLCN has structural similarity to DENN (differentially expressed in normal cells and neoplasia) domain proteins that act as guanine nucleotide exchange factors (GEFs) for small Rab GTPases...
January 15, 2018: Gene
https://www.readbyqxmd.com/read/28583723/control-of-b-lymphocyte-development-and-functions-by-the-mtor-signaling-pathways
#6
REVIEW
Terri N Iwata, Julita A Ramírez-Komo, Heon Park, Brian M Iritani
Mechanistic target of rapamycin (mTOR) is a serine/threonine kinase originally discovered as the molecular target of the immunosuppressant rapamycin. mTOR forms two compositionally and functionally distinct complexes, mTORC1 and mTORC2, which are crucial for coordinating nutrient, energy, oxygen, and growth factor availability with cellular growth, proliferation, and survival. Recent studies have identified critical, non-redundant roles for mTORC1 and mTORC2 in controlling B cell development, differentiation, and functions, and have highlighted emerging roles of the Folliculin-Fnip protein complex in regulating mTOR and B cell development...
June 2017: Cytokine & Growth Factor Reviews
https://www.readbyqxmd.com/read/28363698/dihydromyricetin-prevents-obesity-induced-slow-twitch-fiber-reduction-partially-via-flcn-fnip1-ampk-pathway
#7
Qicheng Zhou, Yeyun Gu, Hedong Lang, Xiaolan Wang, Ka Chen, Xinhua Gong, Min Zhou, Li Ran, Jundong Zhu, Mantian Mi
Obesity is often accompanied by decreases in the proportion of skeletal muscle slow-twitch fibers and insulin sensitivity. Increased plasma non-esterified fatty acids (NEFA) levels are responsible for obesity-associated insulin resistance. Palmitate, one of the most elevated plasma NEFA in obesity, has been recognized as the principle inducer of insulin resistance. The present study showed that increased plasma NEFA levels were negatively linked to slow-twitch fiber proportion and insulin sensitivity, while slow-twitch fiber proportion was positively correlated to insulin sensitivity in high fat diet (HFD)-fed and ob/ob mice...
March 29, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28039480/nutrient-induced-fnip-degradation-by-scf%C3%AE-trcp-regulates-flcn-complex-localization-and-promotes-renal-cancer-progression
#8
Katsuyuki Nagashima, Hidefumi Fukushima, Kouhei Shimizu, Aya Yamada, Masumi Hidaka, Hisashi Hasumi, Tetsuro Ikebe, Satoshi Fukumoto, Koji Okabe, Hiroyuki Inuzuka
Folliculin-interacting protein 1 and 2 (FNIP1 and FNIP2) play critical roles in preventing renal malignancy through their association with the tumor suppressor FLCN. Mutations in FLCN are associated with Birt-Hogg-Dubé (BHD) syndrome, a rare disorder with increased risk of renal cancer. Recent studies indicated that FNIP1/FNIP2 double knockout mice display enlarged polycystic kidneys and renal carcinoma, which phenocopies FLCN knockout mice, suggesting that these two proteins function together to suppress renal cancer...
February 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/27506764/coupling-of-mitochondrial-function-and-skeletal-muscle-fiber-type-by-a-mir-499-fnip1-ampk-circuit
#9
Jing Liu, Xijun Liang, Danxia Zhou, Ling Lai, Liwei Xiao, Lin Liu, Tingting Fu, Yan Kong, Qian Zhou, Rick B Vega, Min-Sheng Zhu, Daniel P Kelly, Xiang Gao, Zhenji Gan
Upon adaption of skeletal muscle to physiological and pathophysiological stimuli, muscle fiber type and mitochondrial function are coordinately regulated. Recent studies have identified pathways involved in control of contractile proteins of oxidative-type fibers. However, the mechanism for coupling of mitochondrial function to the muscle contractile machinery during fiber type transition remains unknown. Here, we show that the expression of the genes encoding type I myosins, Myh7/Myh7b and their intronic miR-208b/miR-499, parallels mitochondrial function during fiber type transitions...
October 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27353360/the-fnip-co-chaperones-decelerate-the-hsp90-chaperone-cycle-and-enhance-drug-binding
#10
Mark R Woodford, Diana M Dunn, Adam R Blanden, Dante Capriotti, David Loiselle, Chrisostomos Prodromou, Barry Panaretou, Philip F Hughes, Aaron Smith, Wendi Ackerman, Timothy A Haystead, Stewart N Loh, Dimitra Bourboulia, Laura S Schmidt, W Marston Linehan, Gennady Bratslavsky, Mehdi Mollapour
Heat shock protein-90 (Hsp90) is an essential molecular chaperone in eukaryotes involved in maintaining the stability and activity of numerous signalling proteins, also known as clients. Hsp90 ATPase activity is essential for its chaperone function and it is regulated by co-chaperones. Here we show that the tumour suppressor FLCN is an Hsp90 client protein and its binding partners FNIP1/FNIP2 function as co-chaperones. FNIPs decelerate the chaperone cycle, facilitating FLCN interaction with Hsp90, consequently ensuring FLCN stability...
June 29, 2016: Nature Communications
https://www.readbyqxmd.com/read/27303042/mutation-of-fnip1-is-associated-with-b-cell-deficiency-cardiomyopathy-and-elevated-ampk-activity
#11
Owen M Siggs, Alexander Stockenhuber, Mukta Deobagkar-Lele, Katherine R Bull, Tanya L Crockford, Bethany L Kingston, Greg Crawford, Consuelo Anzilotti, Violetta Steeples, Sahar Ghaffari, Gabor Czibik, Mohamed Bellahcene, Hugh Watkins, Houman Ashrafian, Benjamin Davies, Angela Woods, David Carling, Arash Yavari, Bruce Beutler, Richard J Cornall
Folliculin (FLCN) is a tumor-suppressor protein mutated in the Birt-Hogg-Dubé (BHD) syndrome, which associates with two paralogous proteins, folliculin-interacting protein (FNIP)1 and FNIP2, forming a complex that interacts with the AMP-activated protein kinase (AMPK). Although it is clear that this complex influences AMPK and other metabolic regulators, reports of its effects have been inconsistent. To address this issue, we created a recessive loss-of-function variant of Fnip1 Homozygous FNIP1 deficiency resulted in profound B-cell deficiency, partially restored by overexpression of the antiapoptotic protein BCL2, whereas heterozygous deficiency caused a loss of marginal zone B cells...
June 28, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/26877139/mechanisms-of-pulmonary-cyst-pathogenesis-in-birt-hogg-dube-syndrome-the-stretch-hypothesis
#12
REVIEW
John C Kennedy, Damir Khabibullin, Elizabeth P Henske
Loss-of-function mutations in the folliculin gene (FLCN) on chromosome 17p cause Birt-Hogg-Dube syndrome (BHD), which is associated with cystic lung disease. The risk of lung collapse (pneumothorax) in BHD patients is 50-fold higher than in the general population. The cystic lung disease in BHD is distinctive because the cysts tend to be basilar, subpleural and lentiform, differentiating BHD from most other cystic lung diseases. Recently, major advances in elucidating the primary functions of the folliculin protein have been made, including roles in mTOR and AMPK signaling via the interaction of FLCN with FNIP1/2, and cell-cell adhesion via the physical interaction of FLCN with plakophilin 4 (PKP4), an armadillo-repeat containing protein that interacts with E-cadherin and is a component of the adherens junctions...
April 2016: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/26631379/lst4-the-yeast-fnip1-2-orthologue-is-a-denn-family-protein
#13
Angela Pacitto, David B Ascher, Louise H Wong, Beata K Blaszczyk, Ravi K Nookala, Nianshu Zhang, Svetlana Dokudovskaya, Tim P Levine, Tom L Blundell
The folliculin/Fnip complex has been demonstrated to play a crucial role in the mechanisms underlying Birt-Hogg-Dubé (BHD) syndrome, a rare inherited cancer syndrome. Lst4 has been previously proposed to be the Fnip1/2 orthologue in yeast and therefore a member of the DENN family. In order to confirm this, we solved the crystal structure of the N-terminal region of Lst4 from Kluyveromyces lactis and show it contains a longin domain, the first domain of the full DENN module. Furthermore, we demonstrate that Lst4 through its DENN domain interacts with Lst7, the yeast folliculin orthologue...
December 2015: Open Biology
https://www.readbyqxmd.com/read/26608100/birt-hogg-dub%C3%A3-syndrome-clinical-and-molecular-aspects-of-recently-identified-kidney-cancer-syndrome
#14
REVIEW
Hisashi Hasumi, Masaya Baba, Yukiko Hasumi, Mitsuko Furuya, Masahiro Yao
Birt-Hogg-Dubé syndrome is an autosomal dominantly inherited disease that predisposes patients to develop fibrofolliculoma, lung cysts and bilateral multifocal renal tumors, histologically hybrid oncocytic/chromophobe tumors, chromophobe renal cell carcinoma, oncocytoma, papillary renal cell carcinoma and clear cell renal cell carcinoma. The predominant forms of Birt-Hogg-Dubé syndrome-associated renal tumors, hybrid oncocytic/chromophobe tumors and chromophobe renal cell carcinoma are typically less aggressive, and a therapeutic principle for these tumors is a surgical removal with nephron-sparing...
March 2016: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/26581862/clinical-features-genetics-and-potential-therapeutic-approaches-for-birt-hogg-dub%C3%A3-syndrome
#15
Laura S Schmidt, W Marston Linehan
INTRODUCTION: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder that predisposes to fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal neoplasia. BHD is characterized by germline mutations in tumor suppressor FLCN . Inactivation of the remaining FLCN allele in kidney cells drives tumorigenesis. Novel FLCN-interacting proteins, FNIP1 and FNIP2, were identified. Studies with FLCN -deficient in vitro and in vivo models support a role for FLCN in modulating AKT-mTOR signaling...
2015: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/26334087/molecular-genetics-and-clinical-features-of-birt-hogg-dub%C3%A3-syndrome
#16
REVIEW
Laura S Schmidt, W Marston Linehan
Birt-Hogg-Dubé (BHD) syndrome is an inherited renal cancer syndrome in which affected individuals are at risk of developing benign cutaneous fibrofolliculomas, bilateral pulmonary cysts and spontaneous pneumothoraces, and kidney tumours. Bilateral multifocal renal tumours that develop in BHD syndrome are most frequently hybrid oncocytic tumours and chromophobe renal carcinoma, but can present with other histologies. Germline mutations in the FLCN gene on chromosome 17 are responsible for BHD syndrome--BHD-associated renal tumours display inactivation of the wild-type FLCN allele by somatic mutation or chromosomal loss, confirming that FLCN is a tumour suppressor gene that fits the classic two-hit model...
October 2015: Nature Reviews. Urology
https://www.readbyqxmd.com/read/26261209/tdp-43-affects-splicing-profiles-and-isoform-production-of-genes-involved-in-the-apoptotic-and-mitotic-cellular-pathways
#17
Laura De Conti, Maureen V Akinyi, Ramiro Mendoza-Maldonado, Maurizio Romano, Marco Baralle, Emanuele Buratti
In recent times, high-throughput screening analyses have broadly defined the RNA cellular targets of TDP-43, a nuclear factor involved in neurodegeneration. A common outcome of all these studies is that changing the expression levels of this protein can alter the expression of several hundred RNAs within cells. What still remains to be clarified is which changes represent direct cellular targets of TDP-43 or just secondary variations due to the general role played by this protein in RNA metabolism. Using an HTS-based splicing junction analysis we identified at least six bona fide splicing events that are consistent with being controlled by TDP-43...
October 15, 2015: Nucleic Acids Research
https://www.readbyqxmd.com/read/25775561/folliculin-interacting-proteins-fnip1-and-fnip2-play-critical-roles-in-kidney-tumor-suppression-in-cooperation-with-flcn
#18
Hisashi Hasumi, Masaya Baba, Yukiko Hasumi, Martin Lang, Ying Huang, HyoungBin F Oh, Masayuki Matsuo, Maria J Merino, Masahiro Yao, Yusuke Ito, Mitsuko Furuya, Yasuhiro Iribe, Tatsuhiko Kodama, Eileen Southon, Lino Tessarollo, Kunio Nagashima, Diana C Haines, W Marston Linehan, Laura S Schmidt
Folliculin (FLCN)-interacting proteins 1 and 2 (FNIP1, FNIP2) are homologous binding partners of FLCN, a tumor suppressor for kidney cancer. Recent studies have revealed potential functions for Flcn in kidney; however, kidney-specific functions for Fnip1 and Fnip2 are unknown. Here we demonstrate that Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn. We observed no detectable phenotype in Fnip2 knockout mice, whereas Fnip1 deficiency produced phenotypes similar to those seen in Flcn-deficient mice in multiple organs, but not in kidneys...
March 31, 2015: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/25548157/fnip1-regulates-skeletal-muscle-fiber-type-specification-fatigue-resistance-and-susceptibility-to-muscular-dystrophy
#19
Nicholas L Reyes, Glen B Banks, Mark Tsang, Daciana Margineantu, Haiwei Gu, Danijel Djukovic, Jacky Chan, Michelle Torres, H Denny Liggitt, Dinesh K Hirenallur-S, David M Hockenbery, Daniel Raftery, Brian M Iritani
Mammalian skeletal muscle is broadly characterized by the presence of two distinct categories of muscle fibers called type I "red" slow twitch and type II "white" fast twitch, which display marked differences in contraction strength, metabolic strategies, and susceptibility to fatigue. The relative representation of each fiber type can have major influences on susceptibility to obesity, diabetes, and muscular dystrophies. However, the molecular factors controlling fiber type specification remain incompletely defined...
January 13, 2015: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/24785297/metabolic-regulator-fnip1-is-crucial-for-inkt-lymphocyte-development
#20
Heon Park, Mark Tsang, Brian M Iritani, Michael J Bevan
Folliculin-interacting protein 1 (Fnip1) is an adaptor protein that physically interacts with AMPK, an energy-sensing kinase that stimulates mitochondrial biogenesis and autophagy in response to low ATP, while turning off energy consumption mediated by mammalian target of rapamycin. Previous studies with Fnip1-null mice revealed that Fnip1 is essential for pre-B-cell development. Here we report a critical role of Fnip1 in invariant natural killer T (iNKT) cell development. Thymic iNKT development in Fnip1(-/-) mice was arrested at stage 2 (NK1...
May 13, 2014: Proceedings of the National Academy of Sciences of the United States of America
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