Coenzyme Q deficiency
aarF domain-containing mitochondrial protein kinase 2(ADCK2)
fatty acids
mitochondrial disease
myopathy
respiratory chain
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
02 Sep 2019
02 Sep 2019
Historique:
received:
03
08
2019
revised:
28
08
2019
accepted:
29
08
2019
entrez:
5
9
2019
pubmed:
5
9
2019
medline:
5
9
2019
Statut:
epublish
Résumé
Fatty acids and glucose are the main bioenergetic substrates in mammals. Impairment of mitochondrial fatty acid oxidation causes mitochondrial myopathy leading to decreased physical performance. Here, we report that haploinsufficiency of
Identifiants
pubmed: 31480808
pii: jcm8091374
doi: 10.3390/jcm8091374
pmc: PMC6780728
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Instituto de Salud Carlos III
ID : PI17-01286, PI17-00190
Organisme : IRP Città della Speranza
ID : GGP13222
Organisme : Telethon Italy
ID : GGP14187c
Organisme : NIH HHS
ID : Intramural
Pays : United States
Déclaration de conflit d'intérêts
The authors declare no competing financial interest.
Références
J Clin Invest. 2013 Dec;123(12):5179-89
pubmed: 24270420
Annu Rev Nutr. 2017 Aug 21;37:51-76
pubmed: 28826372
Elife. 2017 Nov 14;6:
pubmed: 29132502
J Cell Biol. 2015 Feb 16;208(4):429-42
pubmed: 25688136
Neurobiol Learn Mem. 2007 Jul;88(1):137-42
pubmed: 17368053
Cell Metab. 2016 Jun 14;23(6):1093-1112
pubmed: 27304509
Cancer Discov. 2011 Aug;1(3):260-73
pubmed: 21984977
J Vis Exp. 2014 Mar 27;(85):null
pubmed: 24747372
Mitochondrion. 2010 Aug;10(5):510-5
pubmed: 20580948
Mol Cell. 2015 Jan 8;57(1):83-94
pubmed: 25498144
Nat Protoc. 2012 May 31;7(6):1235-46
pubmed: 22653162
Neuromuscul Disord. 2009 Mar;19(3):212-6
pubmed: 19249206
Cell. 2019 May 2;177(4):881-895.e17
pubmed: 31051106
J Exp Biol. 2014 Jun 1;217(Pt 11):1993-2003
pubmed: 24625643
J Muscle Res Cell Motil. 2017 Apr;38(2):143-155
pubmed: 28286928
Orphanet J Rare Dis. 2013 Oct 28;8:173
pubmed: 24164873
BMJ Open. 2013 Mar 25;3(3):null
pubmed: 23533218
Endocr Rev. 2018 Aug 1;39(4):489-517
pubmed: 29697773
Cell. 2018 Aug 9;174(4):780-784
pubmed: 30096309
Contact (Thousand Oaks). 2019 Feb 22;2:2515256418825409
pubmed: 30937424
Nat Rev Gastroenterol Hepatol. 2018 Jun;15(6):349-364
pubmed: 29740166
Hum Mutat. 2018 Mar;39(3):406-414
pubmed: 29194833
Biochim Biophys Acta. 2011 May;1811(5):348-60
pubmed: 21296186
Cell Metab. 2019 Jan 8;29(1):221-228.e3
pubmed: 30197301
Diabetes. 2015 Jan;64(1):23-35
pubmed: 25071025
J Clin Invest. 2017 Apr 3;127(4):1531-1545
pubmed: 28263188
Essays Biochem. 2018 Jul 20;62(3):377-398
pubmed: 30030365
Biophys J. 2006 Aug 15;91(4):1564-89
pubmed: 16679365
PLoS One. 2014 Dec 22;9(12):e114869
pubmed: 25531525
J Biol Chem. 2008 May 23;283(21):14645-53
pubmed: 18353784
Biochim Biophys Acta. 2016 Aug;1857(8):1073-1078
pubmed: 26970214
Science. 2013 Jun 28;340(6140):1567-70
pubmed: 23812712
J Biol Chem. 2019 Aug 16;294(33):12313-12327
pubmed: 31097541
Bio Protoc. 2016 Jul 5;6(13):
pubmed: 28573158
Mitochondrion. 2016 Sep;30:51-8
pubmed: 27374853
Mol Med Rep. 2011 Nov-Dec;4(6):1157-62
pubmed: 21850377
Cell Metab. 2018 Mar 6;27(3):667-676.e4
pubmed: 29514072
JIMD Rep. 2014;12:103-7
pubmed: 24048965
Am J Hum Genet. 2008 Mar;82(3):623-30
pubmed: 18319072
Proc Natl Acad Sci U S A. 2012 Jan 10;109(2):541-6
pubmed: 22190484
Annu Rev Physiol. 2002;64:477-502
pubmed: 11826276
J Neurol Neurosurg Psychiatry. 2014 May;85(5):493-8
pubmed: 24218524
Mol Cell. 2016 Aug 18;63(4):608-620
pubmed: 27499294
Trends Biochem Sci. 2017 Oct;42(10):824-843
pubmed: 28927698
Proc Natl Acad Sci U S A. 2010 Jun 22;107(25):11501-6
pubmed: 20534551
Nat Cell Biol. 2008 Sep;10(9):1027-38
pubmed: 19160483
Am J Hum Genet. 2008 Mar;82(3):661-72
pubmed: 18319074
PLoS One. 2012;7(2):e31270
pubmed: 22355351
Arch Neurol. 2005 Feb;62(2):317-20
pubmed: 15710863
J Biol Chem. 2019 May 31;294(22):8819-8833
pubmed: 30975900
J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):174-8
pubmed: 22036850
Proc Natl Acad Sci U S A. 2015 Jun 23;112(25):E3300-9
pubmed: 26056297
Sci Rep. 2017 Dec 18;7(1):17744
pubmed: 29255295
Free Radic Biol Med. 2011 Jun 15;50(12):1728-36
pubmed: 21447381
J Gerontol A Biol Sci Med Sci. 2016 Apr;71(4):427-30
pubmed: 26297941
Nat Rev Dis Primers. 2016 Oct 20;2:16080
pubmed: 27775730
Orphanet J Rare Dis. 2014 Jul 22;9:117
pubmed: 25200064
Brain. 2007 Aug;130(Pt 8):2037-44
pubmed: 17412732
Nat Protoc. 2014 Feb;9(2):421-38
pubmed: 24457333
Neurology. 2006 Jan 24;66(2):253-5
pubmed: 16434667
J Clin Med. 2017 Mar 05;6(3):
pubmed: 28273876
Cells. 2019 Jan 31;8(2):
pubmed: 30709034
Mol Genet Metab. 2013 Jun;109(2):154-60
pubmed: 23628458
J Inherit Metab Dis. 2010 Oct;33(5):513-20
pubmed: 20532824