Mitochondrial DNA depletion syndrome

[1]. A Saada, et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet. 2001 Nov;29(3):342-4. [Content Brief]

[2]. Alice Bourdon, et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet. 2007 Jun;39(6):776-80. [Content Brief]

[3]. Antonella Spinazzola, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet. 2006 May;38(5):570-5. [Content Brief]

[4]. Anu Suomalainen, et al. Mitochondrial DNA depletion syndromes--many genes, common mechanisms. Neuromuscul Disord. 2010 Jul;20(7):429-37. [Content Brief]

[5]. Ashlee R Stiles, et al. Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. Mol Genet Metab. 2016 Sep;119(1-2):91-9. [Content Brief]

[6]. Aziz Shaibani, et al. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol. 2009 Aug;66(8):1028-32. [Content Brief]

[7]. Caterina Garone, et al. Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. Hum Mol Genet. 2017 Nov 1;26(21):4257-4266. [Content Brief]

[8]. Cornelia Kornblum, et al. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet. 2013 Feb;45(2):214-9. [Content Brief]

[9]. Elena Bonora, et al. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2021 Jun 22;144(5):1451-1466. [Content Brief]

[10]. Elsebet Ostergaard, et al. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet. 2007 Aug;81(2):383-7. [Content Brief]

[11]. Gert Van Goethem, et al. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet. 2003 Jul;11(7):547-9. [Content Brief]

[12]. Giuseppe Punzi, et al. SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. Hum Mol Genet. 2018 Feb 1;27(3):499-504. [Content Brief]

[13]. H Mandel, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet. 2001 Nov;29(3):337-41. [Content Brief]

[14]. I Nishino, et al. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science. 1999 Jan 29;283(5402):689-92. [Content Brief]

[15]. Johannes A Mayr, et al. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet. 2012 Feb 10;90(2):314-20. [Content Brief]

[16]. Kaisu Nikali, et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. 2005 Oct 15;14(20):2981-90. [Content Brief]

[17]. Keiko Saito, et al. Pyruvate therapy for mitochondrial DNA depletion syndrome. Biochim Biophys Acta. 2012 May;1820(5):632-6. [Content Brief]

[18]. Kirsten E Hoff, et al. Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. PLoS One. 2018 Aug 29;13(8):e0203198. [Content Brief]

[19]. Luigi Palmieri, et al. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet. 2005 Oct 15;14(20):3079-88. [Content Brief]

[20]. Orly Elpeleg, et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet. 2005 Jun;76(6):1081-6. [Content Brief]

[21]. Penelope E Bonnen, et al. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 Sep 5;93(3):471-81. [Content Brief]

[22]. Robert K Naviaux, et al. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol. 2004 May;55(5):706-12. [Content Brief]

[23]. Ronen Spiegel, et al. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. J Med Genet. 2016 Feb;53(2):127-31. [Content Brief]

[24]. Veronika Boczonadi, et al. Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. Genet Med. 2018 Oct;20(10):1224-1235. [Content Brief]