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Quoted phrase not found in phrase index: "Coenzyme Q10 deficiency, primary, 1"
Page 1
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Kidney Int. 2022 Sep;102(3):592-603. doi: 10.1016/j.kint.2022.02.040. Epub 2022 Apr 26. Kidney Int. 2022. PMID: 35483523 Free article.
Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. ...Thus, significant …
Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including …
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L. Desbats MA, et al. J Inherit Metab Dis. 2015 Jan;38(1):145-56. doi: 10.1007/s10545-014-9749-9. Epub 2014 Aug 5. J Inherit Metab Dis. 2015. PMID: 25091424 Review.
It involves defective ATP production and oxidative stress, but also an impairment of pyrimidine biosynthesis and increased apoptosis. CoQ(10) deficiency can also be observed in patients with defects unrelated to CoQ(10) biosynthesis, such as RC defects, multiple acyl-CoA d …
It involves defective ATP production and oxidative stress, but also an impairment of pyrimidine biosynthesis and increased apoptosis. CoQ(10 …
The cerebellar bioenergetic state predicts treatment response in COQ8A-related ataxia.
Prasuhn J, Göttlich M, Ebeling B, Bodemann C, Großer S, Wellach I, Reuther K, Hanssen H, Brüggemann N. Prasuhn J, et al. Parkinsonism Relat Disord. 2022 Jun;99:91-95. doi: 10.1016/j.parkreldis.2022.05.008. Epub 2022 May 19. Parkinsonism Relat Disord. 2022. PMID: 35642996
INTRODUCTION: Primary coenzyme Q10 (CoQ10) deficiency, a recessive disorder associated with various defects of CoQ10 biosynthesis and widely varying clinical presentation, is customarily managed by oral Q10 supplementation but the benefit is debated. ...CONCLUSIONS: Our re …
INTRODUCTION: Primary coenzyme Q10 (CoQ10) deficiency, a recessive disorder associated with various defects of CoQ10 biosynthesis and …
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schreuder MF, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Liu C, Sun S, Deng F, Wang X, Clavé S, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Kidney Int. 2022 Sep;102(3):604-612. doi: 10.1016/j.kint.2022.04.029. Epub 2022 May 25. Kidney Int. 2022. PMID: 35643375 Free article.
Primary Coenzyme Q10 (CoQ(10)) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ(10) biosynthesis leading to multidrug-resistant nephrotic syndrome as the hallmark kidney manifestation. ...In a global effort, we collected and analyzed informat …
Primary Coenzyme Q10 (CoQ(10)) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ(10) biosynthesis leadi …
A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.
Olgac A, Öztoprak Ü, Kasapkara ÇS, Kılıç M, Yüksel D, Derinkuyu EB, Taşçı Yıldız Y, Ceylaner S, Ezgu FS. Olgac A, et al. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):165-170. doi: 10.1515/jpem-2019-0245. J Pediatr Endocrinol Metab. 2020. PMID: 31821167
Background Coenzyme Q10 (CoQ10) serves as a shuttle for electrons from complexes I and II to complex III in the respiratory chain, and has important functions within the mitochondria. Primary CoQ10 deficiency is a mitochondrial disorder which has devastating effects, and w …
Background Coenzyme Q10 (CoQ10) serves as a shuttle for electrons from complexes I and II to complex III in the respiratory chain, and has i …
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M, Sacconi S, Hirano M, Basso G, Pierrel F, Navas P, Salviati L, Trevisson E. Desbats MA, et al. Hum Mol Genet. 2016 Oct 1;25(19):4256-4265. doi: 10.1093/hmg/ddw257. Epub 2016 Aug 4. Hum Mol Genet. 2016. PMID: 27493029
COQ2 (p-hydroxybenzoate polyprenyl transferase) encodes the enzyme required for the second step of the final reaction sequence of Coenzyme Q(10) (CoQ) biosynthesis. Its mutations represent a frequent cause of primary CoQ deficiency and have been associated with the widest …
COQ2 (p-hydroxybenzoate polyprenyl transferase) encodes the enzyme required for the second step of the final reaction sequence of Coenzyme Q …
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG, Harrison PM, Hekimi S. Hughes BG, et al. Sci Rep. 2017 Dec 18;7(1):17744. doi: 10.1038/s41598-017-17564-y. Sci Rep. 2017. PMID: 29255295 Free PMC article.
When including only known pathogenic variants, our analysis predicts 1,665 affected individuals worldwide and 192 in the USA. Adding predicted pathogenic variants, our estimate grows to 123,789 worldwide and 1,462 in the USA. This analysis predicts …
When including only known pathogenic variants, our analysis predicts 1,665 affected individuals worldwide and 192 in the USA. …
Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.
Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. Lalani SR, et al. Arch Neurol. 2005 Feb;62(2):317-20. doi: 10.1001/archneur.62.2.317. Arch Neurol. 2005. PMID: 15710863
BACKGROUND: Primary coenzyme Q(10) (CoQ(10)) deficiency is rare. The encephalomyopathic form, described in few families, is characterized by exercise intolerance, recurrent myoglobinuria, developmental delay, ataxia, and seizures. ...The complete recovery of myopathy with …
BACKGROUND: Primary coenzyme Q(10) (CoQ(10)) deficiency is rare. The encephalomyopathic form, described in few families, is character …
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Abdelhakim AH, Dharmadhikari AV, Ragi SD, de Carvalho JRL Jr, Xu CL, Thomas AL, Buchovecky CM, Mansukhani MM, Naini AB, Liao J, Jobanputra V, Maumenee IH, Tsang SH. Abdelhakim AH, et al. Orphanet J Rare Dis. 2020 Nov 13;15(1):320. doi: 10.1186/s13023-020-01600-8. Orphanet J Rare Dis. 2020. PMID: 33187544 Free PMC article.
BACKGROUND: Primary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical manifestations. Nephropathy, myopathy and neurologic involvement are commonly associated, however retinopathy has also been observed with …
BACKGROUND: Primary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical mani …