ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0016.4-9 | New Perspectives | ESPEYB16

4.9. Low IGF-I bioavailability impairs growth and glucose metabolism in a mouse model of human PAPPA2 p.Ala1033Val mutation

M Fujimoto , M Andrew , L Liao , D Zhang , G Yildirim , P Sluss , B Kalra , A Kumar , S Yakar , V Hwa , A Dauber

To read the full abstract: Endocrinology. 2019;160:1363–1376.Pregnancy-associated plasma protein A2 (PAPP-A2) is a metalloproteinase which, by cleaving IGFBP-3 and IGFBP-5, releases free IGF-I from the ternary complexes and regulates its bioavailability. PAPPA2 gene mutations (p.D643fs25* and p.Ala1033Val) have recently been described in various members of two unrelated fam...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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