分子缓解辅酶Q中线粒体缺乏的神经症状。 - Suppr

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Molecule eases neurological symptoms of mitochondrial deficiency in coenzyme Q.

出版信息

Nature. 2025 Jul 23. doi: 10.1038/d41586-025-02289-0.

DOI:10.1038/d41586-025-02289-0

PMID:40708142

Abstract

摘要

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本文引用的文献

HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

Ann Clin Transl Neurol. 2025 Jul;12(7):1360-1367. doi: 10.1002/acn3.70047. Epub 2025 May 14.

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.

Genet Med. 2025 Mar;27(3):101349. doi: 10.1016/j.gim.2024.101349. Epub 2024 Dec 25.

4-Hydroxybenzoic acid rescues multisystemic disease and perinatal lethality in a mouse model of mitochondrial disease.

Cell Rep. 2024 May 28;43(5):114148. doi: 10.1016/j.celrep.2024.114148. Epub 2024 May 1.

The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway.

Nature. 2021 Sep;597(7876):420-425. doi: 10.1038/s41586-021-03865-w. Epub 2021 Sep 1.

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.

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相似文献

Molecule eases neurological symptoms of mitochondrial deficiency in coenzyme Q.

Nature. 2025 Jul 23. doi: 10.1038/d41586-025-02289-0.

Coenzyme Q10 for heart failure.

Cochrane Database Syst Rev. 2021 Feb 3;(2)(2):CD008684. doi: 10.1002/14651858.CD008684.pub3.

The efficacy of coenzyme Q treatment in alleviating the symptoms of primary coenzyme Q deficiency: A systematic review.

J Cell Mol Med. 2022 Sep;26(17):4635-4644. doi: 10.1111/jcmm.17488. Epub 2022 Aug 19.

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Cochrane Database Syst Rev. 2012 May 16;2012(5):CD008150. doi: 10.1002/14651858.CD008150.pub3.

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Cochrane Database Syst Rev. 2011 Dec 7(12):CD008150. doi: 10.1002/14651858.CD008150.pub2.

Blood pressure lowering efficacy of coenzyme Q10 for primary hypertension.

Cochrane Database Syst Rev. 2009 Oct 7(4):CD007435. doi: 10.1002/14651858.CD007435.pub2.

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Pain Manag. 2025 Sep;15(9):555-569. doi: 10.1080/17581869.2025.2528590. Epub 2025 Jul 5.

Primary Coenzyme Q Deficiency Overview

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J Pediatr Endocrinol Metab. 2024 Feb 2;37(3):260-270. doi: 10.1515/jpem-2023-0490. Print 2024 Mar 25.

Blood pressure lowering efficacy of coenzyme Q10 for primary hypertension.

Cochrane Database Syst Rev. 2016 Mar 3;3(3):CD007435. doi: 10.1002/14651858.CD007435.pub3.

本文引用的文献

HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

Ann Clin Transl Neurol. 2025 Jul;12(7):1360-1367. doi: 10.1002/acn3.70047. Epub 2025 May 14.

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.

Genet Med. 2025 Mar;27(3):101349. doi: 10.1016/j.gim.2024.101349. Epub 2024 Dec 25.

4-Hydroxybenzoic acid rescues multisystemic disease and perinatal lethality in a mouse model of mitochondrial disease.

Cell Rep. 2024 May 28;43(5):114148. doi: 10.1016/j.celrep.2024.114148. Epub 2024 May 1.

The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway.

Nature. 2021 Sep;597(7876):420-425. doi: 10.1038/s41586-021-03865-w. Epub 2021 Sep 1.

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.

Genet Med. 2021 Mar;23(3):524-533. doi: 10.1038/s41436-020-01010-y. Epub 2020 Nov 14.