Literature DB >> 30822429

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.

Enrica Calzoni1, Craig D Platt2, Sevgi Keles3, Hye Sun Kuehn4, Sarah Beaussant-Cohen2, Yu Zhang5, Julia Pazmandi6, Gaetana Lanzi7, Francesca Pala5, Azzeddine Tahiat8, Hasibe Artac9, Raul Jimenez Heredia6, Jasmin Dmytrus6, Ismail Reisli3, Vedat Uygun10, Dilara Uygun11, Aysen Bingol11, Erdem Basaran12, Kamel Djenouhat8, Nafissa Benhalla13, Chafa Bendahmane14, Melike Emiroglu15, Tomas Kirchhausen16, Mithun Pasham16, Jennifer Jones2, Jacqueline G Wallace2, Lixin Zheng17, Bertrand Boisson18, Fulvio Porta19, Sergio D Rosenzweig4, Helen Su5, Silvia Giliani7, Michael Lenardo17, Raif S Geha2, Kaan Boztug20, Janet Chou21, Luigi D Notarangelo22.   

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Year:  2019        PMID: 30822429      PMCID: PMC6701838          DOI: 10.1016/j.jaci.2019.02.014

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN: 0091-6749            Impact factor:   10.793


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  9 in total

1.  Endosomal recycling controls plasma membrane area during mitosis.

Authors:  Emmanuel Boucrot; Tomas Kirchhausen
Journal:  Proc Natl Acad Sci U S A       Date:  2007-05-01       Impact factor: 11.205

2.  FCHo proteins are nucleators of clathrin-mediated endocytosis.

Authors:  William Mike Henne; Emmanuel Boucrot; Michael Meinecke; Emma Evergren; Yvonne Vallis; Rohit Mittal; Harvey T McMahon
Journal:  Science       Date:  2010-05-06       Impact factor: 47.728

Review 3.  Mechanisms of clathrin-mediated endocytosis.

Authors:  Marko Kaksonen; Aurélien Roux
Journal:  Nat Rev Mol Cell Biol       Date:  2018-02-07       Impact factor: 94.444

4.  T cell signaling. Antigen affinity, costimulation, and cytokine inputs sum linearly to amplify T cell expansion.

Authors:  Julia M Marchingo; Andrey Kan; Robyn M Sutherland; Ken R Duffy; Cameron J Wellard; Gabrielle T Belz; Andrew M Lew; Mark R Dowling; Susanne Heinzel; Philip D Hodgkin
Journal:  Science       Date:  2014-11-28       Impact factor: 47.728

5.  The first five seconds in the life of a clathrin-coated pit.

Authors:  Emanuele Cocucci; François Aguet; Steeve Boulant; Tom Kirchhausen
Journal:  Cell       Date:  2012-08-03       Impact factor: 41.582

6.  A mobile endocytic network connects clathrin-independent receptor endocytosis to recycling and promotes T cell activation.

Authors:  Ewoud B Compeer; Felix Kraus; Manuela Ecker; Gregory Redpath; Mayan Amiezer; Nils Rother; Philip R Nicovich; Natasha Kapoor-Kaushik; Qiji Deng; Guerric P B Samson; Zhengmin Yang; Jieqiong Lou; Michael Carnell; Haig Vartoukian; Katharina Gaus; Jérémie Rossy
Journal:  Nat Commun       Date:  2018-04-23       Impact factor: 14.919

7.  The membrane-associated proteins FCHo and SGIP are allosteric activators of the AP2 clathrin adaptor complex.

Authors:  Gunther Hollopeter; Jeffrey J Lange; Ying Zhang; Thien N Vu; Mingyu Gu; Michael Ailion; Eric J Lambie; Brian D Slaughter; Jay R Unruh; Laurence Florens; Erik M Jorgensen
Journal:  Elife       Date:  2014-10-10       Impact factor: 8.140

8.  A clathrin coat assembly role for the muniscin protein central linker revealed by TALEN-mediated gene editing.

Authors:  Perunthottathu K Umasankar; Li Ma; James R Thieman; Anupma Jha; Balraj Doray; Simon C Watkins; Linton M Traub
Journal:  Elife       Date:  2014-10-10       Impact factor: 8.140

9.  A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

Authors:  Haifa H Jabara; Steven E Boyden; Janet Chou; Narayanaswamy Ramesh; Michel J Massaad; Halli Benson; Wayne Bainter; David Fraulino; Fedik Rahimov; Colin Sieff; Zhi-Jian Liu; Salem H Alshemmari; Basel K Al-Ramadi; Hasan Al-Dhekri; Rand Arnaout; Mohammad Abu-Shukair; Anant Vatsayan; Eli Silver; Sanjay Ahuja; E Graham Davies; Martha Sola-Visner; Toshiro K Ohsumi; Nancy C Andrews; Luigi D Notarangelo; Mark D Fleming; Waleed Al-Herz; Louis M Kunkel; Raif S Geha
Journal:  Nat Genet       Date:  2015-12-07       Impact factor: 38.330

  9 in total
  8 in total

1.  FCHO controls AP2's initiating role in endocytosis through a PtdIns(4,5)P2-dependent switch.

Authors:  Nathan R Zaccai; Zuzana Kadlecova; Veronica Kane Dickson; Kseniya Korobchevskaya; Jan Kamenicky; Oleksiy Kovtun; Perunthottathu K Umasankar; Antoni G Wrobel; Jonathan G G Kaufman; Sally R Gray; Kun Qu; Philip R Evans; Marco Fritzsche; Filip Sroubek; Stefan Höning; John A G Briggs; Bernard T Kelly; David J Owen; Linton M Traub
Journal:  Sci Adv       Date:  2022-04-29       Impact factor: 14.957

2.  SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.

Authors:  Ottavia M Delmonte; Jenna R E Bergerson; Tomoki Kawai; Hye Sun Kuehn; David H McDermott; Irene Cortese; Michael T Zimmermann; A Kerry Dobbs; Marita Bosticardo; Danielle Fink; Shamik Majumdar; Boaz Palterer; Francesca Pala; Nikita R Dsouza; Marie Pouzolles; Naomi Taylor; Katherine R Calvo; Stephen R Daley; Daniel Velez; Anahita Agharahimi; Katherine Myint-Hpu; Lesia K Dropulic; Jonathan J Lyons; Steven M Holland; Alexandra F Freeman; Rajarshi Ghosh; Morgan B Similuk; Julie E Niemela; Jennifer Stoddard; Douglas B Kuhns; Raul Urrutia; Sergio D Rosenzweig; Magdalena A Walkiewicz; Philip M Murphy; Luigi D Notarangelo
Journal:  Blood       Date:  2021-09-23       Impact factor: 25.476

3.  The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay.

Authors:  C Kelaidi; V Tzotzola; S Polychronopoulou
Journal:  Fam Cancer       Date:  2021-06-15       Impact factor: 2.375

Review 4.  Mycobacterial diseases in patients with inborn errors of immunity.

Authors:  Stéphanie Boisson-Dupuis; Jacinta Bustamante
Journal:  Curr Opin Immunol       Date:  2021-07-24       Impact factor: 7.268

5.  Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.

Authors:  Marcin Łyszkiewicz; Natalia Ziętara; Laura Frey; Ulrich Pannicke; Marcel Stern; Yanshan Liu; Yanxin Fan; Jacek Puchałka; Sebastian Hollizeck; Ido Somekh; Meino Rohlfs; Tuğba Yilmaz; Ekrem Ünal; Musa Karakukcu; Türkan Patiroğlu; Christina Kellerer; Ebru Karasu; Karl-Walter Sykora; Atar Lev; Amos Simon; Raz Somech; Joachim Roesler; Manfred Hoenig; Oliver T Keppler; Klaus Schwarz; Christoph Klein
Journal:  Nat Commun       Date:  2020-02-25       Impact factor: 14.919

6.  Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Authors:  Stuart G Tangye; Waleed Al-Herz; Aziz Bousfiha; Talal Chatila; Charlotte Cunningham-Rundles; Amos Etzioni; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Hans D Ochs; Eric Oksenhendler; Capucine Picard; Jennifer Puck; Troy R Torgerson; Jean-Laurent Casanova; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2020-01-17       Impact factor: 8.317

Review 7.  Endocytic Adaptor Proteins in Health and Disease: Lessons from Model Organisms and Human Mutations.

Authors:  Domenico Azarnia Tehran; Tania López-Hernández; Tanja Maritzen
Journal:  Cells       Date:  2019-10-29       Impact factor: 6.600

Review 8.  Mechanisms and functions of endocytosis in T cells.

Authors:  John C Charpentier; Philip D King
Journal:  Cell Commun Signal       Date:  2021-09-09       Impact factor: 5.712

  8 in total

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