Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature-Reference-Cited by-同舟云学术

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature

Published:2019-04-09 Issue:10 Volume:44 Page:2372-2384
ISSN:0364-3190
Container-title:Neurochemical Research
language:en
Short-container-title:Neurochem Res

Author:

Shalata Adel^ORCID,Edery Michael,Habib Clair,Genizi Jacob,Mahroum Mohammad,Khalaily Lama,Assaf Nurit,Segal Idan,Abed El Rahim Hoda,Shapira Hana,Urian Danielle,Tzur Shay,Douiev Liza,Saada Ann^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s11064-019-02786-5.pdf

Reference22 articles.

1. Quinzii CM, DiMauro S, Hirano M (2007) Human coenzyme Q10 deficiency. Neurochem Res 32:723–727. https://doi.org/10.1097/WCO.0b013e32834ab528

2. Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D’Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M (2012) Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol 69:978–983. https://doi.org/10.1001/archneurol.2012.206

3. Laredj LN, Licitra F, Puccio HM (2014) The molecular genetics of coenzyme Q biosynthesis in health and disease. Biochimie 100:78–87. https://doi.org/10.1016/j.biochi.2013.12.006

4. Quinzii CM, Emmanuele V, Hirano M (2014) Clinical presentations of coenzyme q10 deficiency syndrome. Mol Syndromol 5:141–146. https://doi.org/10.1159/000360490

5. Lagier-Tourenne C, Tazir M, López LC et al (2008) ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet 82:661–672. https://doi.org/10.1016/j.ajhg.2007.12.024

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