-
1
-
-
0029869935
-
Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease
-
Bakker HD, Scholte HR, Dingemans KP, Spelbrink JN, Wijburg FA, Bogert C Van den (1996a) Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr 128:683-687
-
(1996)
J Pediatr
, vol.128
, pp. 683-687
-
-
Bakker, H.D.1
Scholte, H.R.2
Dingemans, K.P.3
Spelbrink, J.N.4
Wijburg, F.A.5
Van den Bogert, C.6
-
2
-
-
0029869891
-
Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family
-
Bakker HD, Bogen C Van den, Scholte HR, Zwart R, Wijburg FA, Spelbrink JN (1996b) Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family. J Inherit Metab Dis 19:112-114
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 112-114
-
-
Bakker, H.D.1
Bogen, C.2
Van den Scholte, H.R.3
Zwart, R.4
Wijburg, F.A.5
Spelbrink, J.N.6
-
3
-
-
0027496432
-
Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion
-
Bodnar AG, Cooper JM, Holt IJ, Leonard JV, Schapira AHV (1993) Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am J Hum Genet 53:663-669
-
(1993)
Am J Hum Genet
, vol.53
, pp. 663-669
-
-
Bodnar, A.G.1
Cooper, J.M.2
Holt, I.J.3
Leonard, J.V.4
Ahv, S.5
-
4
-
-
0028108657
-
Genetic imprinting in the mouse: Implications for gene regulation
-
Cattanach BM, Jones J (1994) Genetic imprinting in the mouse: implications for gene regulation. J Inherit Metab Dis 17:403-420
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 403-420
-
-
Cattanach, B.M.1
Jones, J.2
-
5
-
-
0025885770
-
Replication and transcription of vertebrate mitochondrial DNA
-
Clayton DA (1991) Replication and transcription of vertebrate mitochondrial DNA. Annu Rev Cell Biol 7:453-478
-
(1991)
Annu Rev Cell Biol
, vol.7
, pp. 453-478
-
-
Clayton, D.A.1
-
6
-
-
0027284549
-
Primers for mitochondrial DNA replication generated by endonuclease G
-
Côté J, Ruiz-Carillo A (1993) Primers for mitochondrial DNA replication generated by endonuclease G. Science 261:765-769
-
(1993)
Science
, vol.261
, pp. 765-769
-
-
Côté, J.1
Ruiz-Carillo, A.2
-
7
-
-
0029006975
-
Human mitochondrial transcription factor A and promoter spacing integrity are required for transcription initiation
-
Dairaghi DJ, Shadel GS, Clayton DA (1995) Human mitochondrial transcription factor A and promoter spacing integrity are required for transcription initiation. Biochim Biophys Acta 1271:127-134
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 127-134
-
-
Dairaghi, D.J.1
Shadel, G.S.2
Clayton, D.A.3
-
8
-
-
0027327852
-
Three human glutamate dehydrogenase genes (GLUD1, GLUDP2, and GLUDP3) are located on chromosome 10q, but are not closely linked
-
Deloukas P, Dauwerse JG, Moschonas NK, Ommen GLB van, Loon APGM van (1993) Three human glutamate dehydrogenase genes (GLUD1, GLUDP2, and GLUDP3) are located on chromosome 10q, but are not closely linked. Genomics 17:676-681
-
(1993)
Genomics
, vol.17
, pp. 676-681
-
-
Deloukas, P.1
Dauwerse, J.G.2
Moschonas, N.K.3
Van Ommen, G.L.B.4
Van Loon, A.P.G.M.5
-
9
-
-
2642594473
-
-
Genome Data Base; http://gdbwww.gdb.org
-
-
-
-
10
-
-
0029051835
-
Structure, expression, and chromosomal assignment of the human gene encoding nuclear respiratory factor 1
-
Gopalakrishnan L, Scarpulla RC (1995) Structure, expression, and chromosomal assignment of the human gene encoding nuclear respiratory factor 1. J Biol Chem 270:18019-18025
-
(1995)
J Biol Chem
, vol.270
, pp. 18019-18025
-
-
Gopalakrishnan, L.1
Scarpulla, R.C.2
-
11
-
-
0028268123
-
Integration of physical, genetic and cytogenetic maps of human chromosome 7: Isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers
-
Green ED, Idol JR, Mohr-Tidwell RM, Braden VV, Peluso DC, Fulton RS, Massa HF, Magness CL, Wilson AM, Kimura J, Weissenbach J, Trask BJ (1994) Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers. Hum Mol Genet 3:489-501
-
(1994)
Hum Mol Genet
, vol.3
, pp. 489-501
-
-
Green, E.D.1
Idol, J.R.2
Mohr-Tidwell, R.M.3
Braden, V.V.4
Peluso, D.C.5
Fulton, R.S.6
Massa, H.F.7
Magness, C.L.8
Wilson, A.M.9
Kimura, J.10
Weissenbach, J.11
Trask, B.J.12
-
12
-
-
0028247558
-
Report of the first international workshop on human chromosome 7 mapping 1993
-
Grzeschik K, Tsui L, Green ED (1994) Report of the first international workshop on human chromosome 7 mapping 1993. Cytogenet Cell Genet 65:52-62
-
(1994)
Cytogenet Cell Genet
, vol.65
, pp. 52-62
-
-
Grzeschik, K.1
Tsui, L.2
Green, E.D.3
-
13
-
-
0028231090
-
The 1993-94 Genethon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millaseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993-94 Genethon human genetic linkage map. Nat Genet 7:246-339
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millaseau, P.6
Marc, S.7
Bernardi, G.8
Lathrop, M.9
Weissenbach, J.10
-
14
-
-
0028111681
-
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea
-
Höglund P, Holmberg C, Chapelle A De la, Kere J (1994) Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet 55:747-752
-
(1994)
Am J Hum Genet
, vol.55
, pp. 747-752
-
-
Höglund, P.1
Holmberg, C.2
Chapelle, A.3
De la Kere, J.4
-
15
-
-
0028223609
-
Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion
-
Larsson N, Oldfors A, Holme E, Clayton DA (1994) Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion. Biochem Biophys Res Commun 200:1374-1381
-
(1994)
Biochem Biophys Res Commun
, vol.200
, pp. 1374-1381
-
-
Larsson, N.1
Oldfors, A.2
Holme, E.3
Clayton, D.A.4
-
16
-
-
0031032128
-
Mitochondrial DNA polymerases from yeast to man: A new family of polymerases
-
Lecrenier N, Van der Bruggen P, Foury F (1997) Mitochondrial DNA polymerases from yeast to man: a new family of polymerases. Gene 185:147-152
-
(1997)
Gene
, vol.185
, pp. 147-152
-
-
Lecrenier, N.1
Van der Bruggen, P.2
Foury, F.3
-
17
-
-
0026480006
-
Fatal infantile liver failure associated with mitochondrial DNA depletion
-
Mazziotta MRM, Ricci E, Bertini E, Vici CD, Servidei S, Burlina AB, Sabetta G, Bartuli A, Manfredi G, Silvestri G, Moraes CT, DiMauro S (1992) Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 121:896-901
-
(1992)
J Pediatr
, vol.121
, pp. 896-901
-
-
Mazziotta, M.R.M.1
Ricci, E.2
Bertini, E.3
Vici, C.D.4
Servidei, S.5
Burlina, A.B.6
Sabetta, G.7
Bartuli, A.8
Manfredi, G.9
Silvestri, G.10
Moraes, C.T.11
DiMauro, S.12
-
18
-
-
0026015896
-
MtDNA depletion with variable tissue-expression: A novel genetic abnormality in mitochondrial diseases
-
Moraes CT, Shanske S, Tritschler H, Aprille JR, Andreeta F, Bonilla E, Schon EA, DiMauro S (1991) MtDNA depletion with variable tissue-expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 48:492-501
-
(1991)
Am J Hum Genet
, vol.48
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.3
Aprille, J.R.4
Andreeta, F.5
Bonilla, E.6
Schon, E.A.7
DiMauro, S.8
-
19
-
-
0025829045
-
Similarity of human mitochondrial transcription factor 1 to high mobility group proteins
-
Parisi MA, Clayton DA (1991) Similarity of human mitochondrial transcription factor 1 to high mobility group proteins. Science 252:965-969
-
(1991)
Science
, vol.252
, pp. 965-969
-
-
Parisi, M.A.1
Clayton, D.A.2
-
20
-
-
0028029271
-
Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion
-
Poulton J, Morten K, Freeman-Emmerson C, Potter C, Sewry C, Dubowitz V, Kidd H, Stephenson J, Whitehouse W, Hansen FJ, Parisi MA, Brown G (1994) Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. Hum Mol Genet 3:1763-1769
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1763-1769
-
-
Poulton, J.1
Morten, K.2
Freeman-Emmerson, C.3
Potter, C.4
Sewry, C.5
Dubowitz, V.6
Kidd, H.7
Stephenson, J.8
Whitehouse, W.9
Hansen, F.J.10
Parisi, M.A.11
Brown, G.12
-
21
-
-
0030587492
-
Cloning and sequencing of the human mitochondrial DNA polymerase, DNA polymerase gamma
-
Ropp PA, Copeland WC (1996) Cloning and sequencing of the human mitochondrial DNA polymerase, DNA polymerase gamma. Genomics 36:449-458
-
(1996)
Genomics
, vol.36
, pp. 449-458
-
-
Ropp, P.A.1
Copeland, W.C.2
-
22
-
-
0029086702
-
The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondnal biogenesis, is alternatively spliced in human tissues and cell lines
-
Spelbrink JN, Bogen C Van den (1995) The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondnal biogenesis, is alternatively spliced in human tissues and cell lines. Hum Mol Genet 4:1591-1596
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1591-1596
-
-
Spelbrink, J.N.1
Van den Bogen, C.2
-
23
-
-
0028833524
-
An autosomal locus predisposing to deletions of mitochondrial DNA
-
Suomalainen A, Kaukonen JA, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H, Peltonen L (1995) An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 9:146-151
-
(1995)
Nat Genet
, vol.9
, pp. 146-151
-
-
Suomalainen, A.1
Kaukonen, J.A.2
Amati, P.3
Timonen, R.4
Haltia, M.5
Weissenbach, J.6
Zeviani, M.7
Somer, H.8
Peltonen, L.9
-
24
-
-
0029077015
-
The gene (NFE2L1) for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32
-
Tiranti V, Rossi E, Rocchi M, DiDonato S, Zuffardi O, Zeviani M (1995a) The gene (NFE2L1) for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32. Genomics 27:555-557
-
(1995)
Genomics
, vol.27
, pp. 555-557
-
-
Tiranti, V.1
Rossi, E.2
Rocchi, M.3
DiDonato, S.4
Zuffardi, O.5
Zeviani, M.6
-
25
-
-
0028956422
-
Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis
-
Tiranti V, Rossi E, Ruiz-Carillo A, Rossi G, Rocchi M, DiDonato S, Zuffardi O, Zeviani M (1995b) Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis. Genomics 25:559-564
-
(1995)
Genomics
, vol.25
, pp. 559-564
-
-
Tiranti, V.1
Rossi, E.2
Ruiz-Carillo, A.3
Rossi, G.4
Rocchi, M.5
Didonato, S.6
Zuffardi, O.7
Zeviani, M.8
-
26
-
-
0027364850
-
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
-
Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M (1993) Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet 5:283-286
-
(1993)
Nat Genet
, vol.5
, pp. 283-286
-
-
Toda, T.1
Segawa, M.2
Nomura, Y.3
Nonaka, I.4
Masuda, K.5
Ishihara, T.6
Sakai, M.7
-
27
-
-
0027292463
-
Smaller isoform of human mitochondnal transcription factor 1: Its wide distribution and production by alternative splicing
-
Tominaga K, Hayashi J, Kagawa Y, Ohta S (1993) Smaller isoform of human mitochondnal transcription factor 1: its wide distribution and production by alternative splicing. Biochem Biophys Res Commun 194:544-551
-
(1993)
Biochem Biophys Res Commun
, vol.194
, pp. 544-551
-
-
Tominaga, K.1
Hayashi, J.2
Kagawa, Y.3
Ohta, S.4
-
28
-
-
0026625199
-
A role for RNAase MRP in mitochondrial RNA processing
-
Topper JN, Bennett JL, Clayton DA (1992) A role for RNAase MRP in mitochondrial RNA processing. Cell 70:16-20
-
(1992)
Cell
, vol.70
, pp. 16-20
-
-
Topper, J.N.1
Bennett, J.L.2
Clayton, D.A.3
-
29
-
-
0026541124
-
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
-
Tritschler H, Andreeta F, Moraes CT, Bonilla E, Arnaudo E, Danon MJ, Glass S, Zelaya BM, Vamos E, Telerman-Toppet N, Shanske S, Kadenbach B, DiMauro S, Schon EA (1992) Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 42:209-217
-
(1992)
Neurology
, vol.42
, pp. 209-217
-
-
Tritschler, H.1
Andreeta, F.2
Moraes, C.T.3
Bonilla, E.4
Arnaudo, E.5
Danon, M.J.6
Glass, S.7
Zelaya, B.M.8
Vamos, E.9
Telerman-Toppet, N.10
Shanske, S.11
Kadenbach, B.12
DiMauro, S.13
Schon, E.A.14
-
30
-
-
0027135555
-
NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators
-
Virbasius CA, Virbasius JV, Scarpulla RC (1993) NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators. Genes Dev 7:2431-2445
-
(1993)
Genes Dev
, vol.7
, pp. 2431-2445
-
-
Virbasius, C.A.1
Virbasius, J.V.2
Scarpulla, R.C.3
-
31
-
-
0031104880
-
A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25
-
Walker RL, Anziano P, Meltzer PS (1997) A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25. Genomics 40:376-378
-
(1997)
Genomics
, vol.40
, pp. 376-378
-
-
Walker, R.L.1
Anziano, P.2
Meltzer, P.S.3
-
32
-
-
0026715879
-
Nucleus-driven mutations of human mitochondrial DNA
-
Zeviani M (1992) Nucleus-driven mutations of human mitochondrial DNA. J Inherit Metab Dis 15:456-471
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 456-471
-
-
Zeviani, M.1
|