-
1
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348:2656-68.
-
(2003)
N Engl J Med
, vol.348
, pp. 2656-2668
-
-
Dimauro, S.1
Schon, E.A.2
-
2
-
-
36348966712
-
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
-
Wong LJ, Brunetti-Pierri N, Zhang Q, et al. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology 2007;46:1218-27.
-
(2007)
Hepatology
, vol.46
, pp. 1218-1227
-
-
Wong, L.J.1
Brunetti-Pierri, N.2
Zhang, Q.3
-
3
-
-
38949188752
-
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
-
Dimmock DP, Zhang Q, Dionisi-Vici C, et al. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 2008;29:330-1.
-
(2008)
Hum Mutat
, vol.29
, pp. 330-331
-
-
Dimmock, D.P.1
Zhang, Q.2
Dionisi-Vici, C.3
-
4
-
-
84856257607
-
Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure
-
Goh V, Helbling D, Biank V, et al. Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure. J Pediatr Gastroenterol Nutr 2012;54:291-4.
-
(2012)
J Pediatr Gastroenterol Nutr
, vol.54
, pp. 291-294
-
-
Goh, V.1
Helbling, D.2
Biank, V.3
-
5
-
-
67651062419
-
De Novo mutations in POLG presenting with acute liver failure or encephalopathy
-
Lutz RE, Dimmock D, Schmitt E, et al. De Novo mutations in POLG presenting with acute liver failure or encephalopathy. J Pediatr Gastroenterol Nutr 2009;49:126-9.
-
(2009)
J Pediatr Gastroenterol Nutr
, vol.49
, pp. 126-129
-
-
Lutz, R.E.1
Dimmock, D.2
Schmitt, E.3
-
6
-
-
23644436319
-
Disorders of nuclear-mitochondrial intergenomic signaling
-
Spinazzola A, Zeviani M. Disorders of nuclear-mitochondrial intergenomic signaling. Gene 2005;354:162-8.
-
(2005)
Gene
, vol.354
, pp. 162-168
-
-
Spinazzola, A.1
Zeviani, M.2
-
7
-
-
34249811206
-
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
-
Bourdon A, Minai L, Serre V, et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007;39:776-80.
-
(2007)
Nat Genet
, vol.39
, pp. 776-780
-
-
Bourdon, A.1
Minai, L.2
Serre, V.3
-
8
-
-
33947165311
-
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
-
Carrozzo R, Dionisi-Vici C, Steuerwald U, et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007;130:862-74.
-
(2007)
Brain
, vol.130
, pp. 862-874
-
-
Carrozzo, R.1
Dionisi-Vici, C.2
Steuerwald, U.3
-
9
-
-
18944390365
-
Deficiency of the ADPforming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
-
Elpeleg O, Miller C, Hershkovitz E, et al. Deficiency of the ADPforming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 2005;76:1081-6.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1081-1086
-
-
Elpeleg, O.1
Miller, C.2
Hershkovitz, E.3
-
10
-
-
33644526253
-
New mutations in TK2 gene associated with mitochondrial DNA depletion
-
Galbiati S, Bordoni A, Papadimitriou D, et al. New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol 2006;34:177-85.
-
(2006)
Pediatr Neurol
, vol.34
, pp. 177-185
-
-
Galbiati, S.1
Bordoni, A.2
Papadimitriou, D.3
-
11
-
-
35649024143
-
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
-
Hakonen AH, Isohanni P, Paetau A, et al. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007;130:3032-40.
-
(2007)
Brain
, vol.130
, pp. 3032-3040
-
-
Hakonen, A.H.1
Isohanni, P.2
Paetau, A.3
-
12
-
-
33745713884
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
-
Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006;129:1674-84.
-
(2006)
Brain
, vol.129
, pp. 1674-1684
-
-
Horvath, R.1
Hudson, G.2
Ferrari, G.3
-
13
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-92.
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
14
-
-
34547736513
-
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
-
Ostergaard E, Christensen E, Kristensen E, 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;81:383-7.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 383-387
-
-
Ostergaard, E.1
Christensen, E.2
Kristensen, E.3
-
15
-
-
33947145697
-
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
-
Ostergaard E, Hansen FJ, Sorensen N, et al. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 2007;130:853-61.
-
(2007)
Brain
, vol.130
, pp. 853-861
-
-
Ostergaard, E.1
Hansen, F.J.2
Sorensen, N.3
-
16
-
-
37849003416
-
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
-
Sarzi E, Goffart S, SerreV, et al. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 2007;62:579-87.
-
(2007)
Ann Neurol
, vol.62
, pp. 579-587
-
-
Sarzi, E.1
Goffart, S.2
Serrev3
-
17
-
-
33646376465
-
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
-
Spinazzola A, Viscomi C, Fernandez-Vizarra E, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38:570-5.
-
(2006)
Nat Genet
, vol.38
, pp. 570-575
-
-
Spinazzola, A.1
Viscomi, C.2
Fernandez-Vizarra, E.3
-
18
-
-
57849140614
-
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
-
Wong LJ, Naviaux RK, Brunetti-Pierri N, et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 2008;29:E150-72.
-
(2008)
Hum Mutat
, vol.29
-
-
Wong, L.J.1
Naviaux, R.K.2
Brunetti-Pierri, N.3
-
19
-
-
68549101959
-
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B
-
Shaibani A, Shchelochkov OA, Zhang S, et al. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol 2009;66:1028-32.
-
(2009)
Arch Neurol
, vol.66
, pp. 1028-1032
-
-
Shaibani, A.1
Shchelochkov, O.A.2
Zhang, S.3
-
20
-
-
33747188039
-
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations
-
Freisinger P, Futterer N, Lankes E, et al. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol 2006;63:1129-34.
-
(2006)
Arch Neurol
, vol.63
, pp. 1129-1134
-
-
Freisinger, P.1
Futterer, N.2
Lankes, E.3
-
21
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337-41.
-
(2001)
Nat Genet
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
-
22
-
-
2142705756
-
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
-
Naviaux RK, Nguyen KV. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 2004;55:706-12.
-
(2004)
Ann Neurol
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
23
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
Van Goethem G, Dermaut B, Lofgren A, et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001;28:211-2.
-
(2001)
Nat Genet
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
-
24
-
-
57849144280
-
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency
-
Dimmock DP, Dunn JK, Feigenbaum A, et al. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl 2008;14:1480-5.
-
(2008)
Liver Transpl
, vol.14
, pp. 1480-1485
-
-
Dimmock, D.P.1
Dunn, J.K.2
Feigenbaum, A.3
-
25
-
-
20844442462
-
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
-
Van Goethem G, Luoma P, Rantamaki M, et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004;63:1251-7.
-
(2004)
Neurology
, vol.63
, pp. 1251-1257
-
-
Van Goethem, G.1
Luoma, P.2
Rantamaki, M.3
-
26
-
-
80955158521
-
Mitochondrial DNA polymerase gamma mutations: An ever expanding molecular and clinical spectrum
-
Tang S,Wang J, Lee NC, et al. Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. J Med Genet 2011;48:669-81.
-
(2011)
J Med Genet
, vol.48
, pp. 669-681
-
-
Tang, S.1
Wang, J.2
Lee, N.C.3
-
27
-
-
77649188407
-
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders
-
Saneto RP, Lee IC, Koenig MK, et al. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure 2010;19:140-6.
-
(2010)
Seizure
, vol.19
, pp. 140-146
-
-
Saneto, R.P.1
Lee, I.C.2
Koenig, M.K.3
-
28
-
-
77954371509
-
Quantitative evaluation of the mitochondrial DNA depletion syndrome
-
Dimmock D, Tang LY, Schmitt ES, et al. Quantitative evaluation of the mitochondrial DNA depletion syndrome. Clin Chem 2010;56:1119-27.
-
(2010)
Clin Chem
, vol.56
, pp. 1119-1127
-
-
Dimmock, D.1
Tang, L.Y.2
Schmitt, E.S.3
-
29
-
-
0032101829
-
Reversibility of hepatic mitochondrial damage in rats with long-term cholestasis
-
Krahenbuhl L, Schafer M, Krahenbuhl S. Reversibility of hepatic mitochondrial damage in rats with long-term cholestasis. J Hepatol 1998;28:1000-7.
-
(1998)
J Hepatol
, vol.28
, pp. 1000-1007
-
-
Krahenbuhl, L.1
Schafer, M.2
Krahenbuhl, S.3
-
30
-
-
78049516212
-
Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity
-
Stewart JD, Horvath R, Baruffini E, et al. Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology 2010;52:1791-6.
-
(2010)
Hepatology
, vol.52
, pp. 1791-1796
-
-
Stewart, J.D.1
Horvath, R.2
Baruffini, E.3
-
31
-
-
79953185821
-
Real-time quantitative PCR analysis of mitochondrial DNA content
-
Jan; Chapter 19: Unit 19.7. doi: 10.1002/0471142905.hg1907s68
-
Venegas V, Wang J, Dimmock D, et al. Real-time quantitative PCR analysis of mitochondrial DNA content. Curr Protoc Hum Genet 2011 Jan; Chapter 19: Unit 19.7. doi: 10.1002/0471142905.hg1907s68.
-
(2011)
Curr Protoc Hum Genet
-
-
Venegas, V.1
Wang, J.2
Dimmock, D.3
-
32
-
-
4344579058
-
Hepato-cerebral syndrome: Genetic and pathological studies in an infant with a dGK mutation
-
Filosto M, Mancuso M, Tomelleri G, et al. Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation. Acta Neuropathol (Berl) 2004;108:168-71.
-
(2004)
Acta Neuropathol (Berl)
, vol.108
, pp. 168-171
-
-
Filosto, M.1
Mancuso, M.2
Tomelleri, G.3
-
33
-
-
33847739327
-
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion
-
Mousson de Camaret B, Taanman JW, Padet S, et al. Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. Biochem J 2007;402:377-85.
-
(2007)
Biochem J
, vol.402
, pp. 377-385
-
-
Mousson De Camaret, B.1
Taanman, J.W.2
Padet, S.3
-
34
-
-
0036714964
-
Mitochondrial DNA depletion and dGK gene mutations
-
Salviati L, Sacconi S, Mancuso M, et al. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol 2002;52:311-7.
-
(2002)
Ann Neurol
, vol.52
, pp. 311-317
-
-
Salviati, L.1
Sacconi, S.2
Mancuso, M.3
-
35
-
-
19944416258
-
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria
-
Tadiboyina VT, Rupar A, Atkison P, et al. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. Am J Med Genet A 2005;135:289-91.
-
(2005)
Am J Med Genet A
, vol.135
, pp. 289-291
-
-
Tadiboyina, V.T.1
Rupar, A.2
Atkison, P.3
-
36
-
-
70849123789
-
Down-regulation of the Notch pathway mediated by a gamma-secretase inhibitor induces anti-tumour effects in mouse models of T-cell leukaemia
-
Tammam J, Ware C, Efferson C, et al. Down-regulation of the Notch pathway mediated by a gamma-secretase inhibitor induces anti-tumour effects in mouse models of T-cell leukaemia. Br J Pharmacol 2009; 158:1183-95.
-
(2009)
Br J Pharmacol
, vol.158
, pp. 1183-1195
-
-
Tammam, J.1
Ware, C.2
Efferson, C.3
-
37
-
-
84870180452
-
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
-
Ronchi D, Garone C, Bordoni A, et al. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain 2012;135:3404-15.
-
(2012)
Brain
, vol.135
, pp. 3404-3415
-
-
Ronchi, D.1
Garone, C.2
Bordoni, A.3
-
38
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
39
-
-
34247150665
-
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood
-
e531-e536
-
Sarzi E, Bourdon A, Chretien D, et al. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr 2007;150:531-4534 e531-e536.
-
(2007)
J Pediatr
, vol.150
, pp. 531-4534
-
-
Sarzi, E.1
Bourdon, A.2
Chretien, D.3
-
40
-
-
67651040573
-
Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure
-
Shieh JT, Berquist WE, Zhang Q, et al. Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure. J Pediatr Gastroenterol Nutr 2009; 49:130-2.
-
(2009)
J Pediatr Gastroenterol Nutr
, vol.49
, pp. 130-132
-
-
Shieh, J.T.1
Berquist, W.E.2
Zhang, Q.3
|