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ProteomicsImpaired cAMP Processivity by Phosphodiesterase-Protein Kinase A complexes in Acrodysostosis
Acrodysostosis represents a group of rare genetic disorders characterized by defective skeletal development and is often accompanied by intellectual disabilities. Mutations in the 3’5’cyclic AMP (cAMP)-dependent Protein Kinase (PKA) type I regulatory subunit isoform α (RIα) and phosphodiesterase (PD...
ORGANISM(S): Bos taurus (Bovine) Homo sapiens (Human) 
2023-09-13 | PXD045088 | Pride
Amide hydrogen deuterium exchange mass spectrometry Acrodysostosis Processivity Protein kinase a Signal termination Allostery 
UnknownAcrodysostosis syndromes.
Not available
S-EPMC3868876 | biostudies-literature
UnknownThe first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.
Not available
S-EPMC4159793 | biostudies-literature
UnknownNovel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
Not available
S-EPMC8170587 | biostudies-literature
UnknownExome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
Not available
S-EPMC3322219 | biostudies-literature
UnknownExpanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Not available
S-EPMC6189044 | biostudies-literature
UnknownImpaired cAMP processivity by phosphodiesterase-protein kinase A complexes in acrodysostosis.
Not available
S-EPMC10552185 | biostudies-literature
UnknownA novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.
Not available
S-EPMC8051037 | biostudies-literature
UnknownStructure of a PKA RIα Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation.
Not available
S-EPMC5149412 | biostudies-literature
UnknownRecurrent Acrodysostosis-Related PKA RIα Mutant Reveals a Novel Mechanism of Aberrant PKA Deactivation.
Not available
S-EPMC12851291 | biostudies-literature
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