-
1
-
-
77954035632
-
Mitochondria DNA depletion syndromes -many genes, common mechanisms
-
Suomalainen, A and Isohanni, P (2010). Mitochondria DNA depletion syndromes -many genes, common mechanisms. Neuromusc Disorders 20: 429-437
-
(2010)
Neuromusc Disorders
, vol.20
, pp. 429-437
-
-
Suomalainen, A.1
Isohanni, P.2
-
2
-
-
77955269817
-
The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders
-
Cohen, BH and Naviaux, RK (2010). The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. Methods 51: 364-373
-
(2010)
Methods
, vol.51
, pp. 364-373
-
-
Cohen, B.H.1
Naviaux, R.K.2
-
3
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
Saada, A, Shaag, A, Mandel, H, Nevo, Y, Eriksson, S and Elpeleg, O (2001). Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 29: 342-344
-
(2001)
Nat Genet
, vol.29
, pp. 342-344
-
-
Saada, A.1
Shaag, A.2
Mandel, H.3
Nevo, Y.4
Eriksson, S.5
Elpeleg, O.6
-
4
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
Mandel, H, Szargel, R, Labay, V, Elpeleg, O, Saada, A, Shalata, A et al. (2001). The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 29: 337-341
-
(2001)
Nat Genet
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
Elpeleg, O.4
Saada, A.5
Shalata, A.6
-
5
-
-
34249811206
-
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
-
Bourdon, A, Minai, L, Serre, V, Jais, JP, Sarzi, E, Aubert, S et al. (2007). Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 39: 776-780
-
(2007)
Nat Genet
, vol.39
, pp. 776-780
-
-
Bourdon, A.1
Minai, L.2
Serre, V.3
Jais, J.P.4
Sarzi, E.5
Aubert, S.6
-
6
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino, I, Spinazzola, A and Hirano, M (1999). Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689-692
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
7
-
-
20144388894
-
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gamma A
-
Ferrari, G, Lamantea, E, Donati, A, Filosto, M, Briem, E, Carrara, F et al. (2005). Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 128(Pt 4): 723-731
-
(2005)
Brain
, vol.128
, Issue.PART4
, pp. 723-731
-
-
Ferrari, G.1
Lamantea, E.2
Donati, A.3
Filosto, M.4
Briem, E.5
Carrara, F.6
-
8
-
-
35649024143
-
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
-
Hakonen, AH, Isohanni, P, Paetau, A, Herva, R, Suomalainen, A and Lönnqvist, T (2007). Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 130(Pt 11): 3032-3040
-
(2007)
Brain
, vol.130
, Issue.PART11
, pp. 3032-3040
-
-
Hakonen, A.H.1
Isohanni, P.2
Paetau, A.3
Herva, R.4
Suomalainen, A.5
Lönnqvist, T.6
-
9
-
-
33646376465
-
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
-
Spinazzola, A, Viscomi, C, Fernandez-Vizarra, E, Carrara, F, D'Adamo, P, Calvo, S et al. (2006). MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 38: 570-575
-
(2006)
Nat Genet
, vol.38
, pp. 570-575
-
-
Spinazzola, A.1
Viscomi, C.2
Fernandez-Vizarra, E.3
Carrara, F.4
D'Adamo, P.5
Calvo, S.6
-
10
-
-
57649181749
-
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice
-
Viscomi, C, Spinazzola, A, Maggioni, M, Fernandez-Vizarra, E, Massa, V, Pagano, C et al. (2009). Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. Hum Mol Genet 18: 12-26
-
(2009)
Hum Mol Genet
, vol.18
, pp. 12-26
-
-
Viscomi, C.1
Spinazzola, A.2
Maggioni, M.3
Fernandez-Vizarra, E.4
Massa, V.5
Pagano, C.6
-
11
-
-
36348966712
-
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
-
Wong, LJ, Brunetti-Pierri, N, Zhang, Q, Yazigi, N, Bove, KE, Dahms, BB et al. (2007). Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology 46: 1218-1227
-
(2007)
Hepatology
, vol.46
, pp. 1218-1227
-
-
Wong, L.J.1
Brunetti-Pierri, N.2
Zhang, Q.3
Yazigi, N.4
Bove, K.E.5
Dahms, B.B.6
-
12
-
-
43449102160
-
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form
-
Navarro-Sastre, A, Martín-Hernández, E, Campos, Y, Quintana, E, Medina, E, de Las Heras, RS et al. (2008). Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form. Mol Genet Metab 94: 234-239
-
(2008)
Mol Genet Metab
, vol.94
, pp. 234-239
-
-
Navarro-Sastre, A.1
Martín-Hernández, E.2
Campos, Y.3
Quintana, E.4
Medina, E.5
De Las Heras, R.S.6
-
13
-
-
49449083740
-
Hepatocerebral form of mitochondrial DNA depletion syndrome: Novel MPV17 mutations
-
Spinazzola, A, Santer, R, Akman, OH, Tsiakas, K, Schaefer, H, Ding, X et al. (2008). Hepatocerebral form of mitochondrial DNA depletion syndrome: Novel MPV17 mutations. Arch Neurol 65: 1108-1113
-
(2008)
Arch Neurol
, vol.65
, pp. 1108-1113
-
-
Spinazzola, A.1
Santer, R.2
Akman, O.H.3
Tsiakas, K.4
Schaefer, H.5
Ding, X.6
-
14
-
-
76349116705
-
MPV17- associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations
-
El-Hattab, AW, Li, FY, Schmitt, E, Zhang, S, Craigen, WJ and Wong, LJ (2010). MPV17- associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations. Mol Genet Metab 99: 300-308
-
(2010)
Mol Genet Metab
, vol.99
, pp. 300-308
-
-
El-Hattab, A.W.1
Li, F.Y.2
Schmitt, E.3
Zhang, S.4
Craigen, W.J.5
Wong, L.J.6
-
15
-
-
84869885352
-
MPV17: Fatal hepatocerebral presentation in a Brazilian infant
-
Nogueira, C, de Souza, CF, Husny, A, Derks, TG, Santorelli, FM and Vilarinho, L (2012). MPV17: Fatal hepatocerebral presentation in a Brazilian infant. Mol Genet Metab 107: 764
-
(2012)
Mol Genet Metab
, vol.107
, pp. 764
-
-
Nogueira, C.1
De Souza, C.F.2
Husny, A.3
Derks, T.G.4
Santorelli, F.M.5
Vilarinho, L.6
-
16
-
-
84864456276
-
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
-
AlSaman, A, Tomoum, H, Invernizzi, F and Zeviani, M (2012). Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. Saudi J Gastroenterol 18: 285-289
-
(2012)
Saudi J Gastroenterol
, vol.18
, pp. 285-289
-
-
AlSaman, A.1
Tomoum, H.2
Invernizzi, F.3
Zeviani, M.4
-
17
-
-
77950660127
-
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator
-
Dallabona, C, Marsano, RM, Arzuffi, P, Ghezzi, D, Mancini, P, Zeviani, M et al. (2010). Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator. Hum Mol Genet 19: 1098-1107
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1098-1107
-
-
Dallabona, C.1
Marsano, R.M.2
Arzuffi, P.3
Ghezzi, D.4
Mancini, P.5
Zeviani, M.6
-
18
-
-
57049149030
-
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients
-
Parini, R, Furlan, F, Notarangelo, L, Spinazzola, A, Uziel, G, Strisciuglio, P et al. (2009). Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. J Hepatol 50: 215-221
-
(2009)
J Hepatol
, vol.50
, pp. 215-221
-
-
Parini, R.1
Furlan, F.2
Notarangelo, L.3
Spinazzola, A.4
Uziel, G.5
Strisciuglio, P.6
-
19
-
-
33748642169
-
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene
-
Karadimas, CL, Vu, TH, Holve, SA, Chronopoulou, P, Quinzii, C, Johnsen, SD et al. (2006). Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 79: 544-548
-
(2006)
Am J Hum Genet
, vol.79
, pp. 544-548
-
-
Karadimas, C.L.1
Vu, T.H.2
Holve, S.A.3
Chronopoulou, P.4
Quinzii, C.5
Johnsen, S.D.6
-
20
-
-
0029858821
-
Inner ear defect similar to alport's syndrome in the glomerulosclerosis mouse model mpv17
-
Meyer zum Gottesberge, AM, Reuter, A and Weiher, H. (1996). Inner ear defect similar to Alport's syndrome in the glomerulosclerosis mouse model Mpv17. Eur Arch Otorhinolaryngol 253: 470-474
-
(1996)
Eur Arch Otorhinolaryngol
, vol.253
, pp. 470-474
-
-
Meyer Zum Gottesberge, A.M.1
Reuter, A.2
Weiher, H.3
-
21
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
Ng, PC and Henikoff, S (2003). SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31: 3812-3814
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
22
-
-
84865725896
-
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy
-
Di Meo, I, Auricchio, A, Lamperti, C, Burlina, A, Viscomi, C and Zeviani, M (2012). Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy. EMBO Mol Med 4: 1008-1014
-
(2012)
EMBO Mol Med
, vol.4
, pp. 1008-1014
-
-
Di Meo, I.1
Auricchio, A.2
Lamperti, C.3
Burlina, A.4
Viscomi, C.5
Zeviani, M.6
-
23
-
-
77952485613
-
Ketogenic diet slows down mitochondrial myopathy progression in mice
-
Ahola-Erkkilä, S, Carroll, CJ, Peltola-Mjösund, K, Tulkki, V, Mattila, I, Seppänen-Laakso, T et al. (2010). Ketogenic diet slows down mitochondrial myopathy progression in mice. Hum Mol Genet 19: 1974-1984
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1974-1984
-
-
Ahola-Erkkilä, S.1
Carroll, C.J.2
Peltola-Mjösund, K.3
Tulkki, V.4
Mattila, I.5
Seppänen-Laakso, T.6
-
24
-
-
66049104206
-
MTERF2 regulates oxidative phosphorylation by modulating mtDNA transcription
-
Wenz, T, Luca, C, Torraco, A and Moraes, CT (2009). mTERF2 regulates oxidative phosphorylation by modulating mtDNA transcription. Cell Metab 9: 499-511
-
(2009)
Cell Metab
, vol.9
, pp. 499-511
-
-
Wenz, T.1
Luca, C.2
Torraco, A.3
Moraes, C.T.4
-
25
-
-
0034960344
-
Extrachromosomal recombinant adeno-associated virus vector genomes are primarily responsible for stable liver transduction in vivo
-
Nakai, H, Yant, SR, Storm, TA, Fuess, S, Meuse, L and Kay, MA (2001). Extrachromosomal recombinant adeno-associated virus vector genomes are primarily responsible for stable liver transduction in vivo. J Virol 75: 6969-6976
-
(2001)
J Virol
, vol.75
, pp. 6969-6976
-
-
Nakai, H.1
Yant, S.R.2
Storm, T.A.3
Fuess, S.4
Meuse, L.5
Kay, M.A.6
-
26
-
-
79957965495
-
Early growth response (EGR)-1 is required for timely cell-cycle entry and progression in hepatocytes after acute carbon tetrachloride exposure in mice
-
Pritchard, MT, Malinak, RN and Nagy, LE (2011). Early growth response (EGR)-1 is required for timely cell-cycle entry and progression in hepatocytes after acute carbon tetrachloride exposure in mice. Am J Physiol Gastrointest Liver Physiol 300: G1124-G1131
-
(2011)
Am J Physiol Gastrointest Liver Physiol
, vol.300
-
-
Pritchard, M.T.1
Malinak, R.N.2
Nagy, L.E.3
-
27
-
-
84871871378
-
The channel-forming Sym1 protein is transported by the TIM23 complex in a presequence-independent manner
-
Reinhold, R, Krüger, V, Meinecke, M, Schulz, C, Schmidt, B, Grunau, SD et al. (2012). The channel-forming Sym1 protein is transported by the TIM23 complex in a presequence-independent manner. Mol Cell Biol 32: 5009-5021
-
(2012)
Mol Cell Biol
, vol.32
, pp. 5009-5021
-
-
Reinhold, R.1
Krüger, V.2
Meinecke, M.3
Schulz, C.4
Schmidt, B.5
Grunau, S.D.6
-
28
-
-
84859589413
-
AAV vectors transduce hepatocytes in vivo as efficiently in cirrhotic as in healthy rat livers
-
Sobrevals, L, Enguita, M, Rodriguez, C, Gonzalez-Rojas, J, Alzaguren, P, Razquin, N et al. (2012). AAV vectors transduce hepatocytes in vivo as efficiently in cirrhotic as in healthy rat livers. Gene Ther 19: 411-417
-
(2012)
Gene Ther
, vol.19
, pp. 411-417
-
-
Sobrevals, L.1
Enguita, M.2
Rodriguez, C.3
Gonzalez-Rojas, J.4
Alzaguren, P.5
Razquin, N.6
-
29
-
-
37549000936
-
Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle
-
Tessitore, A, Faella, A, O'Malley, T, Cotugno, G, Doria, M, Kunieda, T et al. (2008). Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle. Mol Ther 16: 30-37
-
(2008)
Mol Ther
, vol.16
, pp. 30-37
-
-
Tessitore, A.1
Faella, A.2
O'Malley, T.3
Cotugno, G.4
Doria, M.5
Kunieda, T.6
-
30
-
-
74149088239
-
Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy
-
Chandler, RJ and Venditti, CP (2010). Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy. Mol Ther 18: 11-16
-
(2010)
Mol Ther
, vol.18
, pp. 11-16
-
-
Chandler, R.J.1
Venditti, C.P.2
-
31
-
-
33745118671
-
Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors
-
Moscioni, D, Morizono, H, McCarter, RJ, Stern, A, Cabrera-Luque, J, Hoang, A et al. (2006). Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors. Mol Ther 14: 25-33
-
(2006)
Mol Ther
, vol.14
, pp. 25-33
-
-
Moscioni, D.1
Morizono, H.2
McCarter, R.J.3
Stern, A.4
Cabrera-Luque, J.5
Hoang, A.6
-
32
-
-
79952190655
-
Long-term amelioration of feline Mucopolysaccharidosis VI after AAVmediated liver gene transfer
-
Cotugno, G, Annunziata, P, Tessitore, A, O'Malley, T, Capalbo, A, Faella, A et al. (2011). Long-term amelioration of feline Mucopolysaccharidosis VI after AAVmediated liver gene transfer. Mol Ther 19: 461-469
-
(2011)
Mol Ther
, vol.19
, pp. 461-469
-
-
Cotugno, G.1
Annunziata, P.2
Tessitore, A.3
O'Malley, T.4
Capalbo, A.5
Faella, A.6
-
33
-
-
84855161388
-
Adenovirus-associated virus vector-mediated gene transfer in hemophilia B
-
Nathwani, AC, Tuddenham, EG, Rangarajan, S, Rosales, C, McIntosh, J, Linch, DC et al. (2011). Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med 365: 2357-2365
-
(2011)
N Engl J Med
, vol.365
, pp. 2357-2365
-
-
Nathwani, A.C.1
Tuddenham, E.G.2
Rangarajan, S.3
Rosales, C.4
McIntosh, J.5
Linch, D.C.6
-
34
-
-
0032924185
-
Gene therapy vectors based on adeno-associated virus type 1
-
Xiao, W, Chirmule, N, Berta, SC, McCullough, B, Gao, G and Wilson, JM (1999). Gene therapy vectors based on adeno-associated virus type 1. J Virol 73: 3994-4003
-
(1999)
J Virol
, vol.73
, pp. 3994-4003
-
-
Xiao, W.1
Chirmule, N.2
Berta, S.C.3
McCullough, B.4
Gao, G.5
Wilson, J.M.6
-
35
-
-
0034633742
-
Purification of recombinant adeno-associated virus vectors by column chromatography and its performance in vivo
-
Gao, G, Qu, G, Burnham, MS, Huang, J, Chirmule, N, Joshi, B et al. (2000). Purification of recombinant adeno-associated virus vectors by column chromatography and its performance in vivo. Hum Gene Ther 11: 2079-2091
-
(2000)
Hum Gene Ther
, vol.11
, pp. 2079-2091
-
-
Gao, G.1
Qu, G.2
Burnham, M.S.3
Huang, J.4
Chirmule, N.5
Joshi, B.6
-
36
-
-
79959314684
-
In vivo correction of cox deficiency by activation of the ampk/pgc-1a axis
-
Viscomi, C, Bottani, E, Civiletto, G, Cerutti, R, Moggio, M, Fagiolari, G et al. (2011). In vivo correction of COX deficiency by activation of the AMPK/PGC-1a axis. Cell Metab 14: 80-90
-
(2011)
Cell Metab
, vol.14
, pp. 80-90
-
-
Viscomi, C.1
Bottani, E.2
Civiletto, G.3
Cerutti, R.4
Moggio, M.5
Fagiolari, G.6
-
37
-
-
9644275464
-
Clinical and molecular findings in children with complex I deficiency
-
Bugiani, M, Invernizzi, F, Alberio, S, Briem, E, Lamantea, E, Carrara, F et al. (2004). Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 1659: 136-147
-
(2004)
Biochim Biophys Acta
, vol.1659
, pp. 136-147
-
-
Bugiani, M.1
Invernizzi, F.2
Alberio, S.3
Briem, E.4
Lamantea, E.5
Carrara, F.6
-
38
-
-
0029875973
-
Cytochemistry and immunocytochemistry of mitochondria in tissue sections
-
Sciacco, M, Bonilla, E (1996). Cytochemistry and immunocytochemistry of mitochondria in tissue sections. Methods Enzymol 264: 509-521
-
(1996)
Methods Enzymol
, vol.264
, pp. 509-521
-
-
Sciacco, M.1
Bonilla, E.2
-
39
-
-
0036024971
-
Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells
-
Fernández-Vizarra, E, López-Pérez, MJ and Enriquez, JA (2002). Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells. Methods 26: 292-297
-
(2002)
Methods
, vol.26
, pp. 292-297
-
-
Fernández-Vizarra, E.1
López-Pérez, M.J.2
Enriquez, J.A.3
-
40
-
-
0023472472
-
Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa
-
Schägger, H and von Jagow, G (1987). Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa. Anal Biochem 166: 368-379
-
(1987)
Anal Biochem
, vol.166
, pp. 368-379
-
-
Schägger, H.1
Von Jagow, G.2
|