Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population

Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population

Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease due to mutations in the <i>ddc</i> gene producing AADC, a homodimeric pyridoxal 5′-phosphate-dependent enzyme. The disorder is often fatal in the first decade and is characterized by profound motor impairment...

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Bibliographic Details
Main Authors: Giovanni Bisello, Mariarita Bertoldi
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:International Journal of Molecular Sciences
Subjects:
aromatic amino acid deficiency
homodimer
heterodimer
interallelic complementation
structure-function relationship
severity prediction
Online Access:https://www.mdpi.com/1422-0067/23/19/11238

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https://www.mdpi.com/1422-0067/23/19/11238

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