Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model

Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model

Abstract Background Hyperphenylalaninemia, a prevalent amino acid metabolism disorder, often results in cognitive impairment. Recent studies have identified a rare variant of this disorder caused by mutations in the DNAJC12 gene. The specific mechanisms by which DNAJC12 mutations lead to hyperphenyl...

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Bibliographic Details
Main Authors: Shunan Wang, Ming Shen, Bo Pang, Bo Zhou, Yuan Yuan, Mei Lu, Xiangling Deng, Min Yang, Shufang Liu, Qiong Wang, Mei Xue, Qisheng Xia, Zhixin Zhang
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
DNAJC12 gene knockout mice
Hyperphenylalanine
CRISPR/Cas9
Aromatic amino acid hydroxylase
Morris water maze
Neurotransmitters
Online Access:https://doi.org/10.1186/s13023-025-03580-z
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https://doi.org/10.1186/s13023-025-03580-z

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