Literature DB >> 33507298

Metabolism meets immunodeficiency disease.

Brian M Iritani1.   

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Year:  2021        PMID： 33507298      PMCID： PMC8938934          DOI： 10.1182/blood.2020008875

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  10 in total

1.  Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.

Authors:  Masaya Baba; Seung-Beom Hong; Nirmala Sharma; Michelle B Warren; Michael L Nickerson; Akihiro Iwamatsu; Dominic Esposito; William K Gillette; Ralph F Hopkins; James L Hartley; Mutsuo Furihata; Shinya Oishi; Wei Zhen; Terrence R Burke; W Marston Linehan; Laura S Schmidt; Berton Zbar
Journal:  Proc Natl Acad Sci U S A       Date:  2006-10-06       Impact factor: 11.205

2.  Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development.

Authors:  Heon Park; Karen Staehling; Mark Tsang; Mark W Appleby; Mary E Brunkow; Daciana Margineantu; David M Hockenbery; Tania Habib; H Denny Liggitt; George Carlson; Brian M Iritani
Journal:  Immunity       Date:  2012-05-17       Impact factor: 31.745

3.  The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development.

Authors:  Masaya Baba; Jonathan R Keller; Hong-Wei Sun; Wolfgang Resch; Stefan Kuchen; Hyung Chan Suh; Hisashi Hasumi; Yukiko Hasumi; Kyong-Rim Kieffer-Kwon; Carme Gallego Gonzalez; Robert M Hughes; Mara E Klein; Hyoungbin F Oh; Paul Bible; Eileen Southon; Lino Tessarollo; Laura S Schmidt; W Marston Linehan; Rafael Casellas
Journal:  Blood       Date:  2012-06-18       Impact factor: 22.113

4.  Metabolic regulator Fnip1 is crucial for iNKT lymphocyte development.

Authors:  Heon Park; Mark Tsang; Brian M Iritani; Michael J Bevan
Journal:  Proc Natl Acad Sci U S A       Date:  2014-04-30       Impact factor: 11.205

5.  Fnip1 regulates skeletal muscle fiber type specification, fatigue resistance, and susceptibility to muscular dystrophy.

Authors:  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
Journal:  Proc Natl Acad Sci U S A       Date:  2014-12-29       Impact factor: 11.205

6.  Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.

Authors:  Tim Niehues; Tuba Turul Özgür; Marie Bickes; Rebekka Waldmann; Jennifer Schöning; Jan Bräsen; Christian Hagel; Matthias Ballmaier; Jan-Henning Klusmann; Alexandra Niedermayer; Ulrich Pannicke; Anselm Enders; Gregor Dückers; Kathrin Siepermann; Julyia Hempel; Klaus Schwarz; Dorothee Viemann
Journal:  Eur J Immunol       Date:  2020-04-20       Impact factor: 5.532

Review 7.  FLCN: The causative gene for Birt-Hogg-Dubé syndrome.

Authors:  Laura S Schmidt; W Marston Linehan
Journal:  Gene       Date:  2017-09-29       Impact factor: 3.688

8.  Folliculin Interacting Protein 1 Maintains Metabolic Homeostasis during B Cell Development by Modulating AMPK, mTORC1, and TFE3.

Authors:  Julita A Ramírez; Terri Iwata; Heon Park; Mark Tsang; Janella Kang; Katy Cui; Winnie Kwong; Richard G James; Masaya Baba; Laura S Schmidt; Brian M Iritani
Journal:  J Immunol       Date:  2019-11-01       Impact factor: 5.422

9.  Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.

Authors:  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
Journal:  Proc Natl Acad Sci U S A       Date:  2016-06-14       Impact factor: 11.205

10.  Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.

Authors:  Francesco Saettini; Cecilia Poli; Jaime Vengoechea; Sonia Bonanomi; Julio C Orellana; Grazia Fazio; Fred H Rodriguez; Loreani P Noguera; Claire Booth; Valentina Jarur-Chamy; Marissa Shams; Maria Iascone; Maja Vukic; Serena Gasperini; Manuel Quadri; Amairelys Barroeta Seijas; Elizabeth Rivers; Mario Mauri; Raffaele Badolato; Gianni Cazzaniga; Cristina Bugarin; Giuseppe Gaipa; Wilma G M Kroes; Daniele Moratto; Monique M van Oostaijen-Ten Dam; Frank Baas; Silvère van der Maarel; Rocco Piazza; Zeynep H Coban-Akdemir; James R Lupski; Bo Yuan; Ivan K Chinn; Lucia Daxinger; Andrea Biondi
Journal:  Blood       Date:  2021-01-28       Impact factor: 22.113
  10 in total

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