Literature DB >> 29936104

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.

Pui Y Lee1, Yuelong Huang2, Qing Zhou3, Oskar Schnappauf3, Michael S Hershfield4, Ying Li2, Nancy J Ganson4, Natalia Sampaio Moura3, Ottavia M Delmonte5, Scellig S Stone6, Michael J Rivkin7, Sung-Yun Pai8, Todd Lyons9, Robert P Sundel10, Victor W Hsu2, Luigi D Notarangelo5, Ivona Aksentijevich3, Peter A Nigrovic11.   

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Year:  2018        PMID: 29936104      PMCID: PMC6175612          DOI: 10.1016/j.jaci.2018.05.038

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


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  9 in total

1.  Early-onset stroke and vasculopathy associated with mutations in ADA2.

Authors:  Qing Zhou; Dan Yang; Amanda K Ombrello; Andrey V Zavialov; Camilo Toro; Anton V Zavialov; Deborah L Stone; Jae Jin Chae; Sergio D Rosenzweig; Kevin Bishop; Karyl S Barron; Hye Sun Kuehn; Patrycja Hoffmann; Alejandra Negro; Wanxia L Tsai; Edward W Cowen; Wuhong Pei; Joshua D Milner; Christopher Silvin; Theo Heller; David T Chin; Nicholas J Patronas; John S Barber; Chyi-Chia R Lee; Geryl M Wood; Alexander Ling; Susan J Kelly; David E Kleiner; James C Mullikin; Nancy J Ganson; Heidi H Kong; Sophie Hambleton; Fabio Candotti; Martha M Quezado; Katherine R Calvo; Hawwa Alao; Beverly K Barham; Anne Jones; James F Meschia; Bradford B Worrall; Scott E Kasner; Stephen S Rich; Raphaela Goldbach-Mansky; Mario Abinun; Elizabeth Chalom; Alisa C Gotte; Marilynn Punaro; Virginia Pascual; James W Verbsky; Troy R Torgerson; Nora G Singer; Timothy R Gershon; Seza Ozen; Omer Karadag; Thomas A Fleisher; Elaine F Remmers; Shawn M Burgess; Susan L Moir; Massimo Gadina; Raman Sood; Michael S Hershfield; Manfred Boehm; Daniel L Kastner; Ivona Aksentijevich
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

2.  Structural basis for the growth factor activity of human adenosine deaminase ADA2.

Authors:  Anton V Zavialov; Xiaodi Yu; Dorothe Spillmann; Grégoire Lauvau; Andrey V Zavialov
Journal:  J Biol Chem       Date:  2010-02-09       Impact factor: 5.157

3.  Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

Authors:  Guillaume Vogt; Ariane Chapgier; Kun Yang; Nadia Chuzhanova; Jacqueline Feinberg; Claire Fieschi; Stéphanie Boisson-Dupuis; Alexandre Alcais; Orchidée Filipe-Santos; Jacinta Bustamante; Ludovic de Beaucoudrey; Ibrahim Al-Mohsen; Sami Al-Hajjar; Abdulaziz Al-Ghonaium; Parisa Adimi; Mehdi Mirsaeidi; Soheila Khalilzadeh; Sergio Rosenzweig; Oscar de la Calle Martin; Thomas R Bauer; Jennifer M Puck; Hans D Ochs; Dieter Furthner; Carolin Engelhorn; Bernd Belohradsky; Davood Mansouri; Steven M Holland; Robert D Schreiber; Laurent Abel; David N Cooper; Claire Soudais; Jean-Laurent Casanova
Journal:  Nat Genet       Date:  2005-05-29       Impact factor: 38.330

Review 4.  Glycosylation in cellular mechanisms of health and disease.

Authors:  Kazuaki Ohtsubo; Jamey D Marth
Journal:  Cell       Date:  2006-09-08       Impact factor: 41.582

5.  Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Authors:  Paulina Navon Elkan; Sarah B Pierce; Reeval Segel; Tom Walsh; Judith Barash; Shai Padeh; Abraham Zlotogorski; Yackov Berkun; Joseph J Press; Masha Mukamel; Isabel Voth; Philip J Hashkes; Liora Harel; Vered Hoffer; Eduard Ling; Fatos Yalcinkaya; Ozgur Kasapcopur; Ming K Lee; Rachel E Klevit; Paul Renbaum; Ariella Weinberg-Shukron; Elif F Sener; Barbara Schormair; Sharon Zeligson; Dina Marek-Yagel; Tim M Strom; Mordechai Shohat; Amihood Singer; Alan Rubinow; Elon Pras; Juliane Winkelmann; Mustafa Tekin; Yair Anikster; Mary-Claire King; Ephrat Levy-Lahad
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

Review 6.  Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.

Authors:  Hasan Hashem; Susan J Kelly; Nancy J Ganson; Michael S Hershfield
Journal:  Curr Rheumatol Rep       Date:  2017-10-05       Impact factor: 4.592

7.  The hydroxy amino acid in an Asn-X-Ser/Thr sequon can influence N-linked core glycosylation efficiency and the level of expression of a cell surface glycoprotein.

Authors:  L Kasturi; J R Eshleman; W H Wunner; S H Shakin-Eshleman
Journal:  J Biol Chem       Date:  1995-06-16       Impact factor: 5.157

Review 8.  Monogenic polyarteritis: the lesson of ADA2 deficiency.

Authors:  Roberta Caorsi; Federica Penco; Francesca Schena; Marco Gattorno
Journal:  Pediatr Rheumatol Online J       Date:  2016-09-08       Impact factor: 3.054

9.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

  9 in total
  16 in total

Review 1.  Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Authors:  Ivona Aksentijevich; Oskar Schnappauf
Journal:  Nat Rev Rheumatol       Date:  2021-05-25       Impact factor: 20.543

Review 2.  Polyarteritis nodosa and deficiency of adenosine deaminase 2 - Shared genealogy, generations apart.

Authors:  Zhengping Huang; Tianwang Li; Peter A Nigrovic; Pui Y Lee
Journal:  Clin Immunol       Date:  2020-04-07       Impact factor: 3.969

Review 3.  Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2).

Authors:  Pui Y Lee; Ivona Aksentijevich; Qing Zhou
Journal:  Semin Immunopathol       Date:  2022-02-17       Impact factor: 9.623

Review 4.  Adenosine deaminase, not immune to a mechanistic rethink in central nervous system disorders?

Authors:  Benjamin Hall; Jonathan G George; Scott P Allen
Journal:  Histol Histopathol       Date:  2021-12-09       Impact factor: 2.303

5.  Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).

Authors:  Pui Y Lee; Erinn S Kellner; Yuelong Huang; Elissa Furutani; Zhengping Huang; Wayne Bainter; Mohammed F Alosaimi; Kelsey Stafstrom; Craig D Platt; Tali Stauber; Somech Raz; Irit Tirosh; Aaron Weiss; Michael B Jordan; Christa Krupski; Despina Eleftheriou; Paul Brogan; Ali Sobh; Zeina Baz; Gerard Lefranc; Carla Irani; Sara S Kilic; Rasha El-Owaidy; M R Lokeshwar; Pallavi Pimpale; Raju Khubchandani; Eugene P Chambers; Janet Chou; Raif S Geha; Peter A Nigrovic; Qing Zhou
Journal:  J Allergy Clin Immunol       Date:  2020-01-13       Impact factor: 10.793

6.  Adenosine deaminase 2 as a biomarker of macrophage activation syndrome in systemic juvenile idiopathic arthritis.

Authors:  Pui Y Lee; Grant S Schulert; Scott W Canna; Yuelong Huang; Jacob Sundel; Ying Li; Kacie J Hoyt; Rachel B Blaustein; Alexandra Wactor; Thuy Do; Olha Halyabar; Margaret H Chang; Fatma Dedeoglu; Siobhan M Case; Esra Meidan; Mindy S Lo; Robert P Sundel; Edward T Richardson; Jane W Newburger; Michael S Hershfield; Mary Beth Son; Lauren A Henderson; Peter A Nigrovic
Journal:  Ann Rheum Dis       Date:  2019-11-09       Impact factor: 19.103

7.  Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.

Authors:  Hyuk Jee; Zhengping Huang; Samantha Baxter; Yuelong Huang; Maria L Taylor; Lauren A Henderson; Sofia Rosenzweig; Aman Sharma; Eugene P Chambers; Michael S Hershfield; Qing Zhou; Fatma Dedeoglu; Ivona Aksentijevich; Peter A Nigrovic; Anne O'Donnell-Luria; Pui Y Lee
Journal:  J Allergy Clin Immunol       Date:  2021-05-15       Impact factor: 10.793

8.  Warts and DADA2: a Mere Coincidence?

Authors:  Katrijn Arts; Jenna R E Bergerson; Amanda K Ombrello; Morgan Similuk; Andrew J Oler; Anahita Agharahimi; Emily M Mace; Mike Hershfield; Carine Wouters; Lien De Somer; Marie-Anne Morren; Rebeca Perez-de Diego; Leen Moens; Alexandra F Freeman; Isabelle Meyts
Journal:  J Clin Immunol       Date:  2018-11-01       Impact factor: 8.542

9.  Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India.

Authors:  Aman Sharma; Gsrsnk Naidu; Vikas Sharma; Saket Jha; Aaadhar Dhooria; Varun Dhir; Prateek Bhatia; Vishal Sharma; Sagar Bhattad; K G Chengappa; Vikas Gupta; Durga Prasanna Misra; Pallavi Pimpale Chavan; Sourabh Malaviya; Rajkiran Dudam; Banwari Sharma; Sathish Kumar; Rajesh Bhojwani; Pankaj Gupta; Vikas Agarwal; Kusum Sharma; Manphool Singhal; Manish Rathi; Ritambhra Nada; Ranjana W Minz; Ved Chaturvedi; Amita Aggarwal; Rohini Handa; Alice Grossi; Marco Gattorno; Zhengping Huang; Jun Wang; Ramesh Jois; V S Negi; Raju Khubchandani; Sanjay Jain; Juan I Arostegui; Eugene P Chambers; Michael S Hershfield; Ivona Aksentijevich; Qing Zhou; Pui Y Lee
Journal:  Arthritis Rheumatol       Date:  2020-12-26       Impact factor: 15.483

10.  Adenosine deaminase 2 activity negatively correlates with age during childhood.

Authors:  Sarah M Bowers; Kristen M Gibson; David A Cabral; Kelly L Brown
Journal:  Pediatr Rheumatol Online J       Date:  2020-07-10       Impact factor: 3.054

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