Redefining infantile-onset multisystem phenotypes of coenzyme Q
Coenzyme Q10
cardiopathy
coenzyme Q biosynthesis
coenzyme Q10 deficiency
encephalopathy
nephrotic syndrome
Journal
Journal of translational genetics and genomics
ISSN: 2578-5281
Titre abrégé: J Transl Genet Genom
Pays: United States
ID NLM: 101754424
Informations de publication
Date de publication:
2020
2020
Historique:
entrez:
11
1
2021
pubmed:
12
1
2021
medline:
12
1
2021
Statut:
ppublish
Résumé
Primary coenzyme Q
Identifiants
pubmed: 33426503
doi: 10.20517/jtgg.2020.02
pmc: PMC7791541
mid: NIHMS1588049
doi:
Types de publication
Journal Article
Langues
eng
Pagination
22-35Subventions
Organisme : NICHD NIH HHS
ID : P01 HD080642
Pays : United States
Déclaration de conflit d'intérêts
Conflicts of interest All authors declared that there are no conflicts of interest.
Références
Am J Hum Genet. 2006 Feb;78(2):345-9
pubmed: 16400613
J Am Soc Nephrol. 2019 Feb 8;:
pubmed: 30737270
J Neuropathol Exp Neurol. 2016 Jul;75(7):663-72
pubmed: 27235405
Pediatr Neurol. 2018 Nov;88:71-74
pubmed: 30337132
Cerebellum. 2019 Jun;18(3):665-669
pubmed: 30847826
Genomics. 2013 Sep;102(3):148-56
pubmed: 23631824
J Med Genet. 2012 Mar;49(3):187-91
pubmed: 22368301
Mol Genet Metab. 2018 Mar;123(3):289-291
pubmed: 29246431
J Biol Chem. 2001 Sep 7;276(36):33297-300
pubmed: 11435415
Free Radic Res. 2006 May;40(5):445-53
pubmed: 16551570
J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):165-170
pubmed: 31821167
Eur J Hum Genet. 2015 Sep;23(9):1254-8
pubmed: 25564041
J Inherit Metab Dis. 2018 Jul;41(4):719-729
pubmed: 29560582
J Neurol Sci. 2013 Mar 15;326(1-2):24-8
pubmed: 23343605
J Med Genet. 2015 Nov;52(11):779-83
pubmed: 26084283
JIMD Rep. 2019 Apr 03;47(1):23-29
pubmed: 31240163
J Clin Invest. 2007 Mar;117(3):765-72
pubmed: 17332895
Methods Enzymol. 2004;378:138-45
pubmed: 15038963
Mitochondrion. 2007 Jun;7 Suppl:S78-88
pubmed: 17482886
Arch Biochem Biophys. 2001 Aug 1;392(1):48-58
pubmed: 11469793
Biochim Biophys Acta. 2016 Sep;1858(9):2116-2122
pubmed: 27342376
Am J Hum Genet. 2006 Dec;79(6):1125-9
pubmed: 17186472
Neurology. 2005 Aug 23;65(4):606-8
pubmed: 16116126
J Am Soc Nephrol. 2007 Oct;18(10):2773-80
pubmed: 17855635
N Engl J Med. 2008 Jun 26;358(26):2849-50
pubmed: 18579827
JAMA. 2014 Nov 12;312(18):1870-9
pubmed: 25326635
J Biol Chem. 2003 Jan 24;278(4):2141-6
pubmed: 12435734
Am J Hum Genet. 2015 Feb 5;96(2):309-17
pubmed: 25658047
Am J Hum Genet. 2015 Aug 6;97(2):199-215
pubmed: 26166479
Biochim Biophys Acta. 2004 Jan 28;1660(1-2):171-99
pubmed: 14757233
Biochim Biophys Acta. 2014 Jul;1842(7):893-901
pubmed: 24576561
J Clin Med. 2017 Mar 24;6(4):
pubmed: 28338638
Essays Biochem. 2018 Jul 20;62(3):377-398
pubmed: 30030365
Biochem Biophys Res Commun. 1993 Feb 15;190(3):921-6
pubmed: 8439341
Hum Mutat. 2018 Jan;39(1):69-79
pubmed: 29044765
Biochim Biophys Acta. 2014 Nov;1841(11):1628-38
pubmed: 25152161
Pediatr Int. 2012 Oct;54(5):585-601
pubmed: 22494076
J Am Soc Nephrol. 2015 Jun;26(6):1279-89
pubmed: 25349199
Am J Kidney Dis. 2017 Jul;70(1):139-144
pubmed: 28117207
Eur J Paediatr Neurol. 2013 Nov;17(6):625-30
pubmed: 23816342
Proc Natl Acad Sci U S A. 2014 Nov 4;111(44):E4697-705
pubmed: 25339443
J Hum Genet. 2019 Apr;64(4):297-304
pubmed: 30659264
Chem Biol. 2011 Sep 23;18(9):1134-42
pubmed: 21944752
Pediatr Nephrol. 2018 Mar;33(3):439-446
pubmed: 29032433
Drug Deliv. 2016 Jul;23(6):1868-81
pubmed: 25544601
Am J Hum Genet. 2008 Mar;82(3):623-30
pubmed: 18319072
J Cell Mol Med. 2017 Oct;21(10):2329-2343
pubmed: 28409910
J Biol Chem. 2012 Jul 6;287(28):23571-81
pubmed: 22593570
EMBO Mol Med. 2015 Mar 23;7(5):670-87
pubmed: 25802402
Free Radic Biol Med. 2002 Sep 1;33(5):627-38
pubmed: 12208349
Am J Physiol Renal Physiol. 2008 Nov;295(5):F1535-44
pubmed: 18784258
Hum Mol Genet. 2013 Mar 15;22(6):1233-48
pubmed: 23255162
Biochim Biophys Acta. 2014 Jan;1842(1):1-6
pubmed: 24140869
Nutrients. 2019 Sep 14;11(9):
pubmed: 31540029
Biochem J. 2004 Sep 1;382(Pt 2):519-26
pubmed: 15153069
Am J Hum Genet. 2008 Mar;82(3):661-72
pubmed: 18319074
Nat Commun. 2015 Mar 06;6:6393
pubmed: 25744659
J Med Genet. 2015 Sep;52(9):627-35
pubmed: 26185144
Eur J Hum Genet. 2016 Mar;24(3):450-4
pubmed: 26081641
Mol Genet Metab Rep. 2017 May 11;12:23-27
pubmed: 28540186
Oxid Med Cell Longev. 2019 Jul 10;2019:3904905
pubmed: 31379988
EMBO Mol Med. 2019 Jan;11(1):
pubmed: 30482867
Ann Clin Transl Neurol. 2017 Oct 17;4(12):902-908
pubmed: 29296619
J Pediatr. 2001 Sep;139(3):456-8
pubmed: 11562630
PLoS One. 2010 Jul 30;5(7):e11897
pubmed: 20689595
Lancet. 2000 Jul 29;356(9227):391-5
pubmed: 10972372
Clin Chim Acta. 2019 Oct;497:88-94
pubmed: 31325447
NPJ Genom Med. 2019 Aug 5;4:18
pubmed: 31396399
Biosci Biotechnol Biochem. 2015;80(1):23-33
pubmed: 26183239
Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3708-3722
pubmed: 30251690
Arch Neurol. 2012 Aug;69(8):978-83
pubmed: 22490322
Mol Aspects Med. 1994;15 Suppl:s103-7
pubmed: 7752821
Am J Hum Genet. 2009 May;84(5):558-66
pubmed: 19375058
Neurology. 2004 Aug 24;63(4):727-9
pubmed: 15326254
Nat Genet. 2015 Jul;47(7):717-726
pubmed: 25985138
Front Med. 2014 Mar;8(1):42-57
pubmed: 24384736
N Engl J Med. 2013 Jul 18;369(3):233-44
pubmed: 23758206
Mol Genet Metab Rep. 2018 Sep 13;17:19-21
pubmed: 30225196