Wang Y, Lilienfeldt N, Hekimi S
Physiol Rev. 2024; 104(4):1533-1610.
PMID: 38722242
PMC: 11495197.
DOI: 10.1152/physrev.00040.2023.
Ebrahimi A, Kamyab A, Hosseini S, Ebrahimi S, Ashkani-Esfahani S
Biochem Res Int. 2023; 2023:5510874.
PMID: 37946741
PMC: 10632062.
DOI: 10.1155/2023/5510874.
Gonzalez-Garcia P, Barriocanal-Casado E, Diaz-Casado M, Lopez-Herrador S, Hidalgo-Gutierrez A, Lopez L
Antioxidants (Basel). 2021; 10(11).
PMID: 34829558
PMC: 8614664.
DOI: 10.3390/antiox10111687.
Abeti R, Zeitlberger A, Peelo C, Fassihi H, Sarkany R, Lehmann A
Br J Pharmacol. 2018; 176(22):4293-4301.
PMID: 30499105
PMC: 6887903.
DOI: 10.1111/bph.14557.
Mancuso M, Orsucci D, Calsolaro V, Choub A, Siciliano G
Pharmaceuticals (Basel). 2016; 2(3):134-149.
PMID: 27713230
PMC: 3978538.
DOI: 10.3390/ph203134.
Neurological disorders associated with DNA strand-break processing enzymes.
Jiang B, Glover J, Weinfeld M
Mech Ageing Dev. 2016; 161(Pt A):130-140.
PMID: 27470939
PMC: 5266678.
DOI: 10.1016/j.mad.2016.07.009.
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Garcia-Diaz B, Barca E, Balreira A, Lopez L, Tadesse S, Krishna S
Hum Mol Genet. 2015; 24(16):4516-29.
PMID: 25976310
PMC: 4512623.
DOI: 10.1093/hmg/ddv183.
Cerebellar Ataxia and Deficiency.
Quinzii C, Hirano M, Naini A
J Neurol Disord Stroke. 2014; 1(1):1004.
PMID: 25126613
PMC: 4130390.
Pathomechanisms in coenzyme q10-deficient human fibroblasts.
Lopez L, Luna-Sanchez M, Garcia-Corzo L, Quinzii C, Hirano M
Mol Syndromol. 2014; 5(3-4):163-9.
PMID: 25126049
PMC: 4112524.
DOI: 10.1159/000360494.
Clinical presentations of coenzyme q10 deficiency syndrome.
Quinzii C, Emmanuele V, Hirano M
Mol Syndromol. 2014; 5(3-4):141-6.
PMID: 25126046
PMC: 4112523.
DOI: 10.1159/000360490.
Consensus paper: management of degenerative cerebellar disorders.
Ilg W, Bastian A, Boesch S, Burciu R, Celnik P, Claassen J
Cerebellum. 2013; 13(2):248-68.
PMID: 24222635
PMC: 4344126.
DOI: 10.1007/s12311-013-0531-6.
Primary coenzyme Q10 (CoQ 10) deficiencies and related nephropathies.
Ozaltin F
Pediatr Nephrol. 2013; 29(6):961-9.
PMID: 23736673
DOI: 10.1007/s00467-013-2482-z.
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
Emmanuele V, Lopez L, Lopez L, Berardo A, Naini A, Tadesse S
Arch Neurol. 2012; 69(8):978-83.
PMID: 22490322
PMC: 3639472.
DOI: 10.1001/archneurol.2012.206.
CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.
Hirano M, Garone C, Quinzii C
Biochim Biophys Acta. 2012; 1820(5):625-31.
PMID: 22274133
PMC: 3319470.
DOI: 10.1016/j.bbagen.2012.01.006.
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).
Horvath R
J Inherit Metab Dis. 2012; 35(4):679-87.
PMID: 22231380
DOI: 10.1007/s10545-011-9434-1.
Repair of persistent strand breaks in the mitochondrial genome.
Sykora P, Wilson 3rd D, Bohr V
Mech Ageing Dev. 2011; 133(4):169-75.
PMID: 22138376
PMC: 4586262.
DOI: 10.1016/j.mad.2011.11.003.
Primary and secondary CoQ(10) deficiencies in humans.
Quinzii C, Hirano M
Biofactors. 2011; 37(5):361-5.
PMID: 21990098
PMC: 3258494.
DOI: 10.1002/biof.155.
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency.
Rahman S, Clarke C, Hirano M
Neuromuscul Disord. 2011; 22(1):76-86.
PMID: 21723727
PMC: 3222743.
DOI: 10.1016/j.nmd.2011.05.001.
Aprataxin localizes to mitochondria and preserves mitochondrial function.
Sykora P, Croteau D, Bohr V, Wilson 3rd D
Proc Natl Acad Sci U S A. 2011; 108(18):7437-42.
PMID: 21502511
PMC: 3088601.
DOI: 10.1073/pnas.1100084108.
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S
Neurogenetics. 2011; 12(3):193-201.
PMID: 21465257
DOI: 10.1007/s10048-011-0281-x.