The <scp>CRISPR</scp>‐Cas9 knockout <i>DDC</i><scp>SH</scp>‐<scp>SY</scp>5<scp>Y</scp><i>in vitro</i> model for <scp>AADC</scp> deficiency provides insight into the pathogenicity of <scp>R</scp>34<scp>7Q</scp> and <scp>L</scp>353<scp>P</scp> variants: a cross‐sectional structural and functional analysis
Aromatic amino acid decarboxylase (AADC) deficiency is a severe inherited recessive neurotransmitter disorder caused by an impairment in dopamine synthesis due to the lack/modification of AADC, the enzyme converting l ‐dopa to dopamine. Patients exhibit severe movement disorders and neurodevelopment...
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Main Authors: | , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | inglés |
Publicado: |
2025
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Acceso en liña: | https://doi.org/10.1111/febs.70120 |
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