Investigating the role of ASCC1 in the causation of bone fragility

Investigating the role of ASCC1 in the causation of bone fragility

Bi-allelic variants in ASCC1 cause the ultrarare bone fragility disorder “spinal muscular atrophy with congenital bone fractures-2” (SMABF2). However, the mechanism by which ASCC1 dysfunction leads to this musculoskeletal condition and the nature of the associated bone defect are poorly understood....

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Bibliographic Details
Main Authors: Barbara Voraberger, Johannes A. Mayr, Nadja Fratzl-Zelman, Stéphane Blouin, Suma Uday, Robert Kopajtich, Marijke Koedam, Helena Hödlmayr, Saskia B. Wortmann, Bernhard Csillag, Holger Prokisch, Bram C. J. van der Eerden, Ahmed El-Gazzar, Wolfgang Högler
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Endocrinology
Subjects:
ASCC1
SMABF2
bone fragility
mesenchymal stromal cell
muscular atrophy
osteoblastogenesis
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1137573/full

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https://www.frontiersin.org/articles/10.3389/fendo.2023.1137573/full

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