Literature DB >> 28044327

Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.

M Gigante1, S Diella1, L Santangelo1,2, E Trevisson3, M J Acosta3, M Amatruda4, G Finzi4, G Caridi5, L Murer6, M Accetturo7, E Ranieri1, G M Ghiggeri5, M Giordano2, G Grandaliano1, L Salviati3, L Gesualdo7.   

Abstract

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Year:  2017        PMID： 28044327     DOI： 10.1111/cge.12960

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  12 in total

1.  CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy-a case report.

Authors:  Małgorzata Stańczyk; Irena Bałasz-Chmielewska; Beata Lipska-Ziętkiewicz; Marcin Tkaczyk
Journal:  Pediatr Nephrol       Date:  2018-09-19       Impact factor: 3.714

Review 2.  Coenzyme Q10 deficiencies: pathways in yeast and humans.

Authors:  Agape M Awad; Michelle C Bradley; Lucía Fernández-Del-Río; Anish Nag; Hui S Tsui; Catherine F Clarke
Journal:  Essays Biochem       Date:  2018-07-20       Impact factor: 8.000

3.  β-RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9 R239X mice.

Authors:  Agustín Hidalgo-Gutiérrez; Eliana Barriocanal-Casado; Mohammed Bakkali; M Elena Díaz-Casado; Laura Sánchez-Maldonado; Miguel Romero; Ramy K Sayed; Cornelia Prehn; Germaine Escames; Juan Duarte; Darío Acuña-Castroviejo; Luis C López
Journal:  EMBO Mol Med       Date:  2019-01       Impact factor: 12.137

4.  Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.

Authors:  Aliaa H Abdelhakim; Avinash V Dharmadhikari; Sara D Ragi; Jose Ronaldo Lima de Carvalho; Christine L Xu; Amanda L Thomas; Christie M Buchovecky; Mahesh M Mansukhani; Ali B Naini; Jun Liao; Vaidehi Jobanputra; Irene H Maumenee; Stephen H Tsang
Journal:  Orphanet J Rare Dis       Date:  2020-11-13       Impact factor: 4.123

5.  COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.

Authors:  Min Li; Zhihui Yue; Hongrong Lin; Haiyan Wang; Huamu Chen; Liangzhong Sun
Journal:  Ren Fail       Date:  2021-12       Impact factor: 2.606

Review 6.  Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.

Authors:  Weizhen Tan; Rannar Airik
Journal:  Pediatr Nephrol       Date:  2021-01-22       Impact factor: 3.714

7.  CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway.

Authors:  Giulio Kleiner; Emanuele Barca; Marcello Ziosi; Valentina Emmanuele; Yimeng Xu; Agustin Hidalgo-Gutierrez; Changhong Qiao; Saba Tadesse; Estela Area-Gomez; Luis C Lopez; Catarina M Quinzii
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2018-09-06       Impact factor: 6.633

8.  Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.

Authors:  Luis Vazquez Fonseca; Mara Doimo; Cristina Calderan; Maria Andrea Desbats; Manuel J Acosta; Cristina Cerqua; Matteo Cassina; Shazia Ashraf; Friedhelm Hildebrandt; Geppo Sartori; Placido Navas; Eva Trevisson; Leonardo Salviati
Journal:  Hum Mutat       Date:  2017-12-18       Impact factor: 4.878

Review 9.  Coenzyme Q10 Supplementation in Aging and Disease.

Authors:  Juan D Hernández-Camacho; Michel Bernier; Guillermo López-Lluch; Plácido Navas
Journal:  Front Physiol       Date:  2018-02-05       Impact factor: 4.566

Review 10.  Current understandings in treating children with steroid-resistant nephrotic syndrome.

Authors:  Jae Il Shin; Jun Oh; Jiwon M Lee; Andreas Kronbichler
Journal:  Pediatr Nephrol       Date:  2020-02-21       Impact factor: 3.714
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