Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
Volume 1865, Issue 11, 1 November 2019, 165536
Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion
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Abbreviations
ATP5A
ATP Synthase Subunit Alpha
COX II
Cytochrome c oxidase subunit 2
DCA
Dichloroacetate
DGUOK
Deoxyguanosine Kinase
DMEM
Dulbecco's Modified Eagle Medium
dNTP
Deoxyribonucleotide triphosphate
DRP1
Dynamin Related Protein 1
ECAR
Extracellular Acidification Rate
FBXL4
F-Box and Leucine rich repeat 4
FCCP
Carbonyl cyanide 4-(trifluoromethoxy) phenylhydrazone
GFP
Green Fluorescent Protein
HA
Hemagglutinin
HEK
Human Embryonic Kidney
HEPES
4-(2-hydroxyethyl)-1-piperazineethanesulfonic acid)
HSP60
Heat Shock Protein 60
IMS
Intermembrane Space
IVSd
Interventricular Septum Thickness
MELAS
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
MEM
Minimum Essential Media
MFN1/2
Mitofusin1/2
mtDNA
Mitochondrial deoxyribonucleic acid
MTO1
Mitochondrial Translation Optimization 1
NDUFB8
NADH:Ubiquinone Oxidoreductase Subunit B8
OCR
Oxygen Consumption Rate
OMIM
Online Mendelian Inheritance in Man
OPA1
Optic Atrophy 1
OXPHOS
Oxidative Phosphorylation
PA-GFP
Photoactivatable Green Fluorescent Protein
PBS
Phosphate Buffered Saline
PDHC
Pyruvate Dehydrogenase Complex
POLG
Polymerase Gamma
QPCR
Quantitative Polymerase Chain Reaction
RRM2B
Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B
SDHB
Succinate Dehydrogenase Complex Iron Sulfur Subunit B
SUCLA2
Succinate-CoA Ligase ADP-Forming Beta Subunit
SUCLG1
Succinate-CoA Ligase Alpha Subunit
TK2
Thymidine Kinase 2
TMRE
Tetramethylrhodamine, ethyl ester
TWNK
Twinkle
TYMP
Thymidine Phosphorylase
UQCRC2
Ubiquinol-Cytochrome C Reductase Core Protein 2
Keywords
Mitochondria
Mitochondrial DNA depletion
Mitochondrial fusion
FBXL4
Dichloroacetate
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© 2019 The Authors. Published by Elsevier B.V.