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  • Adamo, Christin S.University Hospital of Cologne (author)

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

  • Article/chapterEnglish2022

Publisher, publication year, extent ...

  • Elsevier BV,2022
  • 23 s.

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:95bfae77-82d9-44b3-91fd-54224026d2fb
  • https://lup.lub.lu.se/record/95bfae77-82d9-44b3-91fd-54224026d2fbURI
  • https://doi.org/10.1016/j.ajhg.2022.10.010DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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Classification

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

Notes

  • EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective tissue integrity is not fully understood. Here, we report bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, resembling autosomal-recessive cutis laxa type 1B, due to EFEMP2 (FBLN4) deficiency. In both humans and mice, absence of EMILIN1 impairs EFEMP2 extracellular matrix deposition and LOX activity resulting in impaired elastogenesis, reduced collagen crosslinking, and aberrant growth factor signaling. Collagen fiber ultrastructure and histopathology in EMILIN1- or EFEMP2-deficient skin and aorta corroborate these findings and murine Emilin1-/- femora show abnormal trabecular bone formation and strength. Altogether, EMILIN1 connects elastic fiber network with collagen fibril formation, relevant for both bone and vascular tissue homeostasis.

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  • Beyens, AudeGhent University Hospital (author)
  • Schiavinato, AlviseUniversity Hospital of Cologne (author)
  • Keene, Douglas R. (author)
  • Tufa, Sara F. (author)
  • Mörgelin, MatthiasLund University,Lunds universitet,Infektionsmedicin,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Infection Medicine (BMC),Section III,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)medk-mmn (author)
  • Brinckmann, JürgenBritish Columbia Children's Hospital (author)
  • Sasaki, Takako (author)
  • Niehoff, AnjaUniversity Hospital of Cologne (author)
  • Dreiner, Maren (author)
  • Pottie, LoreGhent University Hospital (author)
  • Muiño-Mosquera, LauraGhent University Hospital (author)
  • Gulec, Elif YilmazIstanbul Medeniyet University (author)
  • Gezdirici, Alper (author)
  • Braghetta, PaolaUniversity of Padova (author)
  • Bonaldo, PaoloUniversity of Padova (author)
  • Wagener, RaimundUniversity Hospital of Cologne (author)
  • Paulsson, MatsUniversity Hospital of Cologne (author)
  • Bornaun, Helen (author)
  • De Rycke, RietGhent University (author)
  • De Bruyne, MichielGhent University (author)
  • Baeke, FemkeGhent University (author)
  • Devine, Walter P.University of California, San Francisco (author)
  • Gangaram, BalramUniversity of California, San Francisco (author)
  • Tam, AllisonUniversity of California, San Francisco (author)
  • Balasubramanian, MeenaSheffield Children's Hospital (author)
  • Ellard, SianRoyal Devon and Exeter NHS Foundation Trust (author)
  • Moore, SandraRoyal Devon and Exeter NHS Foundation Trust (author)
  • Symoens, SofieGhent University Hospital (author)
  • Shen, Joseph (author)
  • Cole, Stacey (author)
  • Schwarze, UlrikeUniversity of Washington (author)
  • Holmes, Kathryn W. (author)
  • Hayflick, Susan J.Oregon Health & Science University (author)
  • Wiszniewski, WojciechOregon Health & Science University (author)
  • Nampoothiri, SheelaAmrita Hospital (author)
  • Davis, Elaine C.McGill University (author)
  • Sakai, Lynn Y.Oregon Health & Science University (author)
  • Sengle, GerhardUniversity Hospital of Cologne (author)
  • Callewaert, BertGhent University Hospital (author)
  • University Hospital of CologneGhent University Hospital (creator_code:org_t)

Related titles

  • In:American Journal of Human Genetics: Elsevier BV109:12, s. 2230-22520002-9297

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