Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency
暂无分享,去创建一个
Christie M. Buchovecky | V. Jobanputra | S. Tsang | M. Mansukhani | Avinash V. Dharmadhikari | I. Maumenee | A. Naini | Sara D. Ragi | Christine L. Xu | Jose Ronaldo Lima de Carvalho | Aliaa H. Abdelhakim | Jun Liao | Amanda L Thomas | Christie Buchovecky
[1] Yan Liu,et al. A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report , 2019, BMC Medical Genetics.
[2] J. Duarte,et al. β‐RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9 R239X mice , 2018, EMBO molecular medicine.
[3] D. Yalnızoǧlu,et al. Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation. , 2018, Pediatric neurology.
[4] X. Zhang,et al. [Clinical analysis of one infantile nephrotic syndrome caused by COQ2 gene mutation and literature review]. , 2018, Zhonghua er ke za zhi = Chinese journal of pediatrics.
[5] Alexandros Kouris,et al. VarSome: the human genomic variant search engine , 2018, bioRxiv.
[6] T. Seeman,et al. Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93 , 2018, Pediatric Nephrology.
[7] Christina Lam,et al. COQ2 nephropathy: a treatable cause of nephrotic syndrome in children , 2018, Pediatric Nephrology.
[8] L. C. López,et al. Bypassing human CoQ10 deficiency. , 2017, Molecular genetics and metabolism.
[9] R. Rodenburg,et al. 4‐Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency , 2017, Annals of clinical and translational neurology.
[10] M. Accetturo,et al. Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants , 2017, Clinical genetics.
[11] H. Prokisch,et al. Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics. , 2017, Molecular genetics and metabolism.
[12] T. Matsukawa,et al. Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations , 2017, The Cerebellum.
[13] P. Navas,et al. The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. , 2016, Human molecular genetics.
[14] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[15] C. Angelini,et al. Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure , 2015, European Journal of Human Genetics.
[16] Michael Bach,et al. ISCEV Standard for full-field clinical electroretinography (2015 update) , 2014, Documenta Ophthalmologica.
[17] S. Seneca,et al. Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2). , 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[18] Laurie D. Smith,et al. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. , 2013, Genomics.
[19] M. Ognjanović,et al. Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. , 2013, Clinical journal of the American Society of Nephrology : CJASN.
[20] R. Rodenburg,et al. A novel mutation in COQ2 leading to fatal infantile multisystem disease , 2013, Journal of the Neurological Sciences.
[21] M. Hirano,et al. Primary and secondary CoQ(10) deficiencies in humans. , 2011, BioFactors.
[22] L. Salviati,et al. Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. , 2008, The New England journal of medicine.
[23] E. Bertini,et al. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. , 2007, Journal of the American Society of Nephrology : JASN.
[24] S. Dimauro,et al. Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. , 2007, Human molecular genetics.
[25] I. Kanazawa,et al. Multiplex families with multiple system atrophy. , 2007, Archives of neurology.
[26] A. Munnich,et al. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. , 2007, The Journal of clinical investigation.
[27] S. Dimauro,et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. , 2006, American journal of human genetics.
[28] S. Dimauro,et al. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition , 2005, Neurology.
[29] A. Munnich,et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency , 2000, The Lancet.
[30] P. Rustin,et al. A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency , 1998, Journal of the Neurological Sciences.
[31] M. C. Leske,et al. The Lens Opacities Classification System III , 1993 .
[32] J. Trojanowski,et al. Mutations in COQ2 in familial and sporadic multiple-system atrophy. , 2013, The New England journal of medicine.
[33] M. C. Leske,et al. The Lens Opacities Classification System III. The Longitudinal Study of Cataract Study Group. , 1993, Archives of ophthalmology.
[34] P. Navas,et al. Primary Coenzyme Q 10 Deficiency , 1993 .