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  • Roberts, Jason D.Western Univ, Canada; UCSF, CA USA (author)

Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy

  • Article/chapterEnglish2019

Publisher, publication year, extent ...

  • AMER SOC CLINICAL INVESTIGATION INC,2019
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:liu-159716
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-159716URI
  • https://doi.org/10.1172/JCI125538DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Funding Agencies|Marianne Barrie Philanthropic Fund; Canadian Institutes of Health Research [RN332805]; Netherlands CardioVascular Research Initiative: the Dutch Heart Foundation; Dutch Federation of University Medical Centers; Netherlands Organisation for Health Research and Development; Royal Netherlands Academy of Sciences [CVON-PREDICT 2012-10]; Netherlands Cardiovascular Research Initiative - Dutch Heart Foundation [CVON2012-10 PREDICT CVON2018-30 PREDICT2, CVON2015-12 eDETECT]; Netherlands Organization for Scientific Research (NWO) [040.11.586]; Fondation Leducq [16 CVD 02]; Dr. Francis P. Chiramonte Private Foundation; Leyla Erkan Family Fund for ARVD Research; Robin Shah ARVD Fund at Johns Hopkins; Bogle Foundation; Healing Hearts Foundation; Campanella Family; Patrick J. Harrison Family; Peter French Memorial Foundation; Wilmerding Endowments; NIH [HL135754, HL134824, HL139348, HL135096, HL114383, HL114893, HL137331, HL137325, 2UM1HG006542, UL1 TR 001079]; Ohio State Frick Center; JB Project
  • Arrhythmogenic cardiomyopathy (ACM) is an inherited arrhythmia syndrome characterized by severe structural and electrical cardiac phenotypes, including myocardial fibrofatty replacement and sudden cardiac death. Clinical management of ACM is largely palliative, owing to an absence of therapies that target its underlying pathophysiology, which stems partially from our limited insight into the condition. Following identification of deceased ACM probands possessing ANK2 rare variants and evidence of ankyrin-B loss of function on cardiac tissue analysis, an ANK2 mouse model was found to develop dramatic structural abnormalities reflective of human ACM, including biventricular dilation, reduced ejection fraction, cardiac fibrosis, and premature death. Desmosomal structure and function appeared preserved in diseased human and murine specimens in the presence of markedly abnormal beta-catenin expression and patterning, leading to identification of a previously unknown interaction between ankyrin-B and beta-catenin. A pharmacological activator of the WNT/beta-catenin pathway, SB-216763, successfully prevented and partially reversed the murine ACM phenotypes. Our findings introduce what we believe to be a new pathway for ACM, a role of ankyrin-B in cardiac structure and signaling, a molecular link between ankyrin-B and beta-catenin, and evidence for targeted activation of the WNT/beta-catenin pathway as a potential treatment for this disease.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Murphy, Nathaniel P.Ohio State Univ, OH 43210 USA (author)
  • Hamilton, Robert M.Hosp Sick Children, Canada; Univ Toronto, Canada (author)
  • Lubbers, Ellen R.Ohio State Univ, OH 43210 USA (author)
  • James, Cynthia A.Johns Hopkins Univ, MD USA (author)
  • Kline, Crystal F.Ohio State Univ, OH 43210 USA (author)
  • Gollob, Michael H.Univ Toronto, Canada (author)
  • Krahn, Andrew D.Univ British Columbia, Canada (author)
  • Sturm, Amy C.Geisinger, PA USA (author)
  • Musa, HassanOhio State Univ, OH 43210 USA (author)
  • El-Refaey, MonaOhio State Univ, OH 43210 USA (author)
  • Koenig, SaraOhio State Univ, OH 43210 USA (author)
  • Åström, MeriamLinköpings universitet,Avdelningen för kardiovaskulär medicin,Medicinska fakulteten,Region Östergötland, Fysiologiska kliniken US(Swepub:liu)meras88 (author)
  • Hoorntje, Edgar T.Netherlands Heart Inst, Netherlands; Univ Groningen, Netherlands (author)
  • Graw, Sharon L.Univ Colorado Denver, CO USA (author)
  • Davies, Robert W.Hosp Sick Children, Canada; Hosp Sick Children, Canada (author)
  • Rafiq, Muhammad ArshadHosp Sick Children, Canada; Hosp Sick Children, Canada; Univ Toronto, Canada; COMSATS Univ, Pakistan (author)
  • Koopmann, Tamara T.Hosp Sick Children, Canada; Univ Toronto, Canada (author)
  • Aafaqi, ShabanaHosp Sick Children, Canada; Univ Toronto, Canada (author)
  • Fatah, MeenaHosp Sick Children, Canada; Univ Toronto, Canada (author)
  • Chiasson, David A.Hosp Sick Children, Canada (author)
  • Taylor, Matthew R. G.Univ Colorado Denver, CO USA; Univ Colorado Denver, CO USA (author)
  • Simmons, Samantha L.Ohio State Univ, OH 43210 USA; Ohio State Univ, OH 43210 USA; Ohio State Univ, OH 43210 USA; Ohio State Univ, OH 43210 USA (author)
  • Han, MeiOhio State Univ, OH 43210 USA; Ohio State Univ, OH 43210 USA; Ohio State Univ, OH 43210 USA; Ohio State Univ, OH 43210 USA (author)
  • van Opbergen, Chantal J. M.Univ Utrecht, Netherlands (author)
  • Wold, Loren E.Ohio State Univ, OH 43210 USA (author)
  • Sinagra, GianfrancoASUITS Univ Trieste, Italy (author)
  • Mittal, KirtiHosp Sick Children, Canada; Univ Toronto, Canada (author)
  • Tichnell, CrystalJohns Hopkins Univ, MD USA (author)
  • Murray, BrittneyJohns Hopkins Univ, MD USA (author)
  • Codima, AlbertoUniv Sao Paulo, Brazil (author)
  • Nazer, BabakOregon Hlth and Sci Univ, OR 97201 USA (author)
  • Nguyen, Duy T.Univ Colorado, CO USA (author)
  • Marcus, Frank I.Univ Arizona, AZ USA (author)
  • Sobriera, NaraJohns Hopkins Univ, MD USA (author)
  • Lodder, Elisabeth M.Univ Amsterdam, Netherlands (author)
  • van den Berg, Maarten P.Univ Groningen, Netherlands (author)
  • Spears, Danna A.Univ Toronto, Canada (author)
  • Robinson, John F.Western Univ, Canada (author)
  • Ursell, Philip C.UCSF, CA USA (author)
  • Gréen, AnnaLinköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik(Swepub:liu)anner70 (author)
  • Skanes, Allan C.Western Univ, Canada (author)
  • Tang, Anthony S.Western Univ, Canada (author)
  • Gardner, Martin J.Dalhousie Univ, Canada (author)
  • Hegele, Robert A.Western Univ, Canada (author)
  • van Veen, Toon A. B.Univ Utrecht, Netherlands (author)
  • Wilde, Arthur A. M.Univ Amsterdam, Netherlands (author)
  • Healey, Jeff S.McMaster Univ, Canada (author)
  • Janssen, Paul M. L.Ohio State Univ, OH 43210 USA (author)
  • Mestroni, LuisaUniv Colorado Denver, CO USA (author)
  • van Tintelen, J. PeterUniv Groningen, Netherlands; Univ Amsterdam, Netherlands; UMCU, Netherlands (author)
  • Calkins, HughJohns Hopkins Univ, MD USA (author)
  • Judge, Daniel P.Johns Hopkins Univ, MD USA; Med Univ South Carolina, SC 29425 USA (author)
  • Hund, Thomas J.Ohio State Univ, OH 43210 USA (author)
  • Scheinman, Melvin M.UCSF, CA USA (author)
  • Mohler, Peter J.Ohio State Univ, OH 43210 USA (author)
  • Western Univ, Canada; UCSF, CA USAOhio State Univ, OH 43210 USA (creator_code:org_t)

Related titles

  • In:Journal of Clinical Investigation: AMER SOC CLINICAL INVESTIGATION INC129:8, s. 3171-31840021-97381558-8238

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