143 related articles for article (PubMed ID: 19394258)
21. Mutation analysis in 16 patients with mtDNA depletion.
Carrozzo R; Bornstein B; Lucioli S; Campos Y; de la Pena P; Petit N; Dionisi-Vici C; Vilarinho L; Rizza T; Bertini E; Garesse R; Santorelli FM; Arenas J
Hum Mutat; 2003 Apr; 21(4):453-4. PubMed ID: 12655576
[TBL] [Abstract][Full Text] [Related]
22. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.
Buchaklian AH; Helbling D; Ware SM; Dimmock DP
Mol Genet Metab; 2012 Sep; 107(1-2):92-4. PubMed ID: 22622127
[TBL] [Abstract][Full Text] [Related]
23. Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation.
Rabinowitz SS; Gelfond D; Chen CK; Gloster ES; Whitington PF; Sacconi S; Salviati L; DiMauro S
J Pediatr Gastroenterol Nutr; 2004 Feb; 38(2):216-20. PubMed ID: 14734888
[No Abstract] [Full Text] [Related]
24. Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms.
Villarroya J; de Bolós C; Meseguer A; Hirano M; Vilà MR
Exp Cell Res; 2009 May; 315(8):1429-38. PubMed ID: 19265691
[TBL] [Abstract][Full Text] [Related]
25. Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Navarro-Sastre A; Tort F; Garcia-Villoria J; Pons MR; Nascimento A; Colomer J; Campistol J; Yoldi ME; López-Gallardo E; Montoya J; Unceta M; Martinez MJ; Briones P; Ribes A
Mol Genet Metab; 2012 Nov; 107(3):409-15. PubMed ID: 22980518
[TBL] [Abstract][Full Text] [Related]
26. Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish.
Munro B; Horvath R; Müller JS
Hum Mol Genet; 2019 Mar; 28(5):796-803. PubMed ID: 30428046
[TBL] [Abstract][Full Text] [Related]
27. Mitochondrial DNA depletion and dGK gene mutations.
Salviati L; Sacconi S; Mancuso M; Otaegui D; Camaño P; Marina A; Rabinowitz S; Shiffman R; Thompson K; Wilson CM; Feigenbaum A; Naini AB; Hirano M; Bonilla E; DiMauro S; Vu TH
Ann Neurol; 2002 Sep; 52(3):311-7. PubMed ID: 12205643
[TBL] [Abstract][Full Text] [Related]
28. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
Elpeleg O; Mandel H; Saada A
J Mol Med (Berl); 2002 Jul; 80(7):389-96. PubMed ID: 12110944
[TBL] [Abstract][Full Text] [Related]
29. Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Al-Hussaini A; Faqeih E; El-Hattab AW; Alfadhel M; Asery A; Alsaleem B; Bakhsh E; Ali A; Alasmari A; Lone K; Nahari A; Eyaid W; Al Balwi M; Craig K; Butterworth A; He L; Taylor RW
J Pediatr; 2014 Mar; 164(3):553-9.e1-2. PubMed ID: 24321534
[TBL] [Abstract][Full Text] [Related]
30. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
31. Neonatal liver failure due to deoxyguanosine kinase deficiency.
Nobre S; Grazina M; Silva F; Pinto C; Gonçalves I; Diogo L
BMJ Case Rep; 2012 Apr; 2012():. PubMed ID: 22602837
[TBL] [Abstract][Full Text] [Related]
32. Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.
Vilarinho S; Sari S; Yilmaz G; Stiegler AL; Boggon TJ; Jain D; Akyol G; Dalgic B; Günel M; Lifton RP
Hepatology; 2016 Jun; 63(6):1977-86. PubMed ID: 26874653
[TBL] [Abstract][Full Text] [Related]
33. The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.
Vanden Avond MA; Meng H; Beatka MJ; Helbling DC; Prom MJ; Sutton JL; Slick RA; Dimmock DP; Pertusati F; Serpi M; Pileggi E; Crutcher P; Thomas S; Lawlor MW
J Inherit Metab Dis; 2021 Mar; 44(2):492-501. PubMed ID: 33368311
[TBL] [Abstract][Full Text] [Related]
34. Deoxyribonucleoside kinases in mitochondrial DNA depletion.
Saada-Reisch A
Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1205-15. PubMed ID: 15571232
[TBL] [Abstract][Full Text] [Related]
35. Deoxyguanosine kinase deficiency: a report of four patients.
Ünal Ö; Hişmi B; Kılıç M; Gülşen HH; Coşkun T; Sivri SH; Dursun A; Yüce A; Tokatlı A
J Pediatr Endocrinol Metab; 2017 May; 30(6):697-702. PubMed ID: 28493820
[TBL] [Abstract][Full Text] [Related]
36. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.
Ji JQ; Dimmock D; Tang LY; Descartes M; Gomez R; Rutledge SL; Schmitt ES; Wong LJ
Mitochondrion; 2010 Mar; 10(2):188-91. PubMed ID: 19900589
[TBL] [Abstract][Full Text] [Related]
37. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
Auslender N; Sharon D; Abbasi AH; Garzozi HJ; Banin E; Ben-Yosef T
Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5431-8. PubMed ID: 18055789
[TBL] [Abstract][Full Text] [Related]
38. Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.
Mahjoub G; Habibzadeh P; Dastsooz H; Mirzaei M; Kavosi A; Jamali L; Javanmardi H; Katibeh P; Faghihi MA; Dastgheib SA
BMC Med Genet; 2019 Oct; 20(1):167. PubMed ID: 31664948
[TBL] [Abstract][Full Text] [Related]
39. [Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].
Deng M; Lin WX; Guo L; Zhang ZH; Song YZ
Zhongguo Dang Dai Er Ke Za Zhi; 2016 Jun; 18(6):545-50. PubMed ID: 27324545
[TBL] [Abstract][Full Text] [Related]
40. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Ronchi D; Garone C; Bordoni A; Gutierrez Rios P; Calvo SE; Ripolone M; Ranieri M; Rizzuti M; Villa L; Magri F; Corti S; Bresolin N; Mootha VK; Moggio M; DiMauro S; Comi GP; Sciacco M
Brain; 2012 Nov; 135(Pt 11):3404-15. PubMed ID: 23043144
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
