Article

Reduced PDE4D expression and activity in Acrodysostosis Type 2 patient fibroblasts underlie disease pathology

2026-08-11

Abstract excerpt

<h4>Background</h4> Acrodysostosis type 2 (ACRDYS2) is a rare autosomal dominant disease characterized by skeletal defects and cognitive deficit, with clinical symptoms observed in multiple other tissues including the skin. It is caused by mutations in a phosphodiesterase, PDE4D, a key regulator of cAMP/PKA (cyclic adenosine monophosphate / protein kinase A) signalling. Despite its well-defined genetic causes, th...

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Literature Corpus work: 7fb398c6-9481-582e-accf-c0a3e01713d7
DOI: 10.64898/2026.08.10.743905

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