TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.
Journal
EMBO molecular medicine
ISSN: 1757-4684
Titre abrégé: EMBO Mol Med
Pays: England
ID NLM: 101487380
Informations de publication
Date de publication:
10 07 2023
10 07 2023
Historique:
revised:
16
05
2023
received:
17
02
2023
accepted:
25
05
2023
medline:
11
7
2023
pubmed:
9
6
2023
entrez:
9
6
2023
Statut:
ppublish
Résumé
Osteogenesis imperfecta (OI) is a hereditary skeletal disorder primarily affecting collagen type I structure and function, causing bone fragility and occasionally versatile extraskeletal symptoms. This study expands the spectrum of OI-causing TAPT1 mutations and links extracellular matrix changes to signaling regulation.
Identifiants
pubmed: 37292039
doi: 10.15252/emmm.202317528
pmc: PMC10331569
doi:
Substances chimiques
Collagen Type I
0
Types de publication
Letter
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e17528Subventions
Organisme : Biotechnology and Biological Sciences Research Council
ID : BB/T001984/1
Pays : United Kingdom
Informations de copyright
© 2023 The Authors. Published under the terms of the CC BY 4.0 license.
Références
Bone Res. 2021 Nov 10;9(1):48
pubmed: 34759273
Cilia. 2017 May 25;6:8
pubmed: 28560031
Bone. 2009 Jun;44(6):1063-8
pubmed: 19254787
J Bone Miner Res. 2004 Nov;19(11):1873-81
pubmed: 15476588
J Spine Surg. 2017 Dec;3(4):666-678
pubmed: 29354746
J Biol Chem. 2006 Nov 24;281(47):35598-602
pubmed: 17035233
EMBO Mol Med. 2023 Jul 10;15(7):e17528
pubmed: 37292039
J Clin Invest. 2017 Jun 30;127(7):2539-2540
pubmed: 28628035
iScience. 2021 Jun 17;24(7):102739
pubmed: 34278253
Bone. 2021 Feb;143:115754
pubmed: 33189914
J Nanobiotechnology. 2022 Oct 29;20(1):462
pubmed: 36309688
Mol Endocrinol. 2004 May;18(5):1222-37
pubmed: 14976225
EMBO Mol Med. 2023 Feb 8;15(2):e16478
pubmed: 36652330
Am J Hum Genet. 2015 Oct 1;97(4):521-34
pubmed: 26365339
Hum Genet. 2023 Mar;142(3):457-476
pubmed: 36697720
Am J Med Genet A. 2019 Jun;179(6):908-914
pubmed: 30896082
Am J Hum Genet. 2013 Apr 4;92(4):590-7
pubmed: 23499310