Article
Bone dysplasia in Hutchinson-Gilford progeria syndrome is associated with dysregulated differentiation and function of bone cell populations.
Aging cell - 1 Sept 2023
Cabral Wayne A, Stephan Chris, Terajima Masahiko, Thaivalappil Abhirami A, Blanchard Owen, Tavarez Urraca L, Narisu Narisu, Yan Tingfen, Wincovitch Stephen M, Taga Yuki, Yamauchi Mitsuo, Kozloff Kenneth M, Erdos Michael R, Collins Francis S
Abstract excerpt
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder affecting tissues of mesenchymal origin. Most individuals with HGPS harbor a de novo c.1824C > T (p.G608G) mutation in the gene encoding lamin A (LMNA), which activates a cryptic splice donor site resulting in production of the toxic "progerin" protein. Clinical manifestations include growth deficiency, lipodystrophy, sclerotic dermis,...
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