Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization

Background Hereditary spastic paraplegias (HSP) are neurologic disorders characterized by progressive lower‐extremity spasticity. Despite the identification of several HSP‐related genes, many patients lack a genetic diagnosis. Objectives The aims were to confirm the pathogenic role of biallelic COQ4...

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Veröffentlicht in:	Movement disorders 2024-01, Vol.39 (1), p.152-163
Hauptverfasser:	Lin, Xiang, Jiang, Jun‐Yi, Hong, Dao‐jun, Lin, Kai‐Jun, Li, Jin‐Jing, Chen, Yi‐Jun, Qiu, Yu‐sen, Wang, Zishuai, Liao, Yi‐Chu, Yang, Kang, Shi, Yan, Wang, Meng‐wen, Hsu, Shao‐Lun, Hong, Shunyan, Zeng, Yi‐Heng, Chen, Xiao‐Chun, Wang, Ning, Lee, Yi‐Chung, Chen, Wan‐Jin
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Biosynthesis Cell lines Cerebellar ataxia Cerebellum coenzyme Q4 gene Complementation complementation assay Danio rerio Epilepsy Fibroblasts Genetic screening Hereditary spastic paraplegia Humans Membrane potential Mitochondria Mitochondrial Proteins - genetics motor neuron Mutation Mutation - genetics Mutation, Missense Paralysis pathogenesis Pluripotency Pyramidal cells Reactive oxygen species Spastic Paraplegia, Hereditary - genetics Spasticity Ubiquinone Ubiquinone - genetics Zebrafish
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