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Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins.

Molecular genetics and metabolism - 1 Jan 2000

Longo Carmen, Montioli Riccardo, Bisello Giovanni, Palazzi Luana, Mastrangelo Mario, Brennenstuhl Heiko, de Laureto Patrizia Polverino, Opladen Thomas, Leuzzi Vincenzo, Bertoldi Mariarita

Abstract excerpt

Compound heterozygosis is the most diffuse and hardly to tackle condition in aromatic amino acid decarboxylase (AADC) deficiency, a genetic disease leading to severe neurological impairment. Here, by using an appropriate vector, we succeeded in obtaining high yields of AADC protein and characterizing two new heterodimers, T69M/S147R and C281W/M362T, detected in two AADC deficiency patients. We performed an...

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PMID: 34479793
DOI: 10.1016/j.ymgme.2021.08.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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