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Literature DB >> 32181500

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

Tim Niehues¹, Tuba Turul Özgür¹, Marie Bickes², Rebekka Waldmann³, Jennifer Schöning², Jan Bräsen⁴, Christian Hagel⁵, Matthias Ballmaier⁶, Jan-Henning Klusmann^7,8, Alexandra Niedermayer³, Ulrich Pannicke³, Anselm Enders^9,10, Gregor Dückers¹, Kathrin Siepermann¹, Julyia Hempel², Klaus Schwarz^3,11, Dorothee Viemann².

Abstract

AMPK (adenosine monophosphate-activated protein kinase) is phosphorylated (AMPK-P) in response to low energy through allosteric activation by Adenosine mono- or diphosphate (AMP/ADP). Folliculin (FLCN) and the FLCN-interacting proteins 1 and 2 (FNIP1, 2) modulate AMPK. FNIP1 deficiency patients have a AMPK-P gain of function phenotype with hypertrophic cardiomyopathy, Wolff-Parkinson-White pre-excitation syndrome, myopathy of skeletal muscles and combined immunodeficiency.

Entities: Chemical Disease Gene Species

Keywords: B cell development; cardiomyopathy; immunodeficiency; metabolism; myopathy

Mesh：

Substances：

Year: 2020 PMID： 32181500 DOI： 10.1002/eji.201948504

Source DB: PubMed Journal: Eur J Immunol ISSN： 0014-2980 Impact factor: 5.532

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Cited

8 in total

1. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Authors: Stuart G Tangye; Waleed Al-Herz; Aziz Bousfiha; Charlotte Cunningham-Rundles; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Eric Oksenhendler; Capucine Picard; Anne Puel; Jennifer Puck; Mikko R J Seppänen; Raz Somech; Helen C Su; Kathleen E Sullivan; Troy R Torgerson; Isabelle Meyts
Journal: J Clin Immunol Date: 2022-06-24 Impact factor: 8.542

2. FNIP1 regulates adipocyte browning and systemic glucose homeostasis in mice by shaping intracellular calcium dynamics.

Authors: Yujing Yin; Dengqiu Xu; Yan Mao; Liwei Xiao; Zongchao Sun; Jing Liu; Danxia Zhou; Zhisheng Xu; Lin Liu; Tingting Fu; Chenyun Ding; Qiqi Guo; Wanping Sun; Zheng Zhou; Likun Yang; Yuhuan Jia; Xinyi Chen; Zhenji Gan
Journal: J Exp Med Date: 2022-04-12 Impact factor: 17.579

3. 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

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

1. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.

2. FNIP1 regulates adipocyte browning and systemic glucose homeostasis in mice by shaping intracellular calcium dynamics.

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

4. Metabolism meets immunodeficiency disease.

Review 5. The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.

Review 6. Novel Genetic Discoveries in Primary Immunodeficiency Disorders.

Review 7. Emerging Link between Tsc1 and FNIP Co-Chaperones of Hsp90 and Cancer.

Review 8. Mutations in Hsp90 Cochaperones Result in a Wide Variety of Human Disorders.