-
1
-
-
0033624575
-
The common PPARg Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
-
Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, et al. 2000. The common PPARg Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26: 76-80.
-
(2000)
Nat Genet.
, vol.26
, pp. 76-80
-
-
Altshuler, D.1
Hirschhorn, J.N.2
Klannemark, M.3
Lindgren, C.M.4
Vohl, M.C.5
Nemesh, J.6
Lane, C.R.7
Schaffner, S.F.8
Bolk, S.9
Brewer, C.10
-
2
-
-
79952730699
-
Alzheimer's Association report: 2011 Alzheimer's disease facts and figures
-
Alzheimer's Association
-
Alzheimer's Association, ThiesW, Bleiler L. 2011. Alzheimer's Association report: 2011 Alzheimer's disease facts and figures. Alzheimer's Dement 7: 208-244.
-
(2011)
Alzheimer's Dement
, vol.7
, pp. 208-244
-
-
Thies, W.1
Bleiler, L.2
-
3
-
-
77955082781
-
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect
-
Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, et al. 2010. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet 87: 115-122.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 115-122
-
-
Antonicka, H.1
Ostergaard, E.2
Sasarman, F.3
Weraarpachai, W.4
Wibrand, F.5
Pedersen, A.M.6
Rodenburg, R.J.7
van der Knaap, M.S.8
Smeitink, J.A.9
Chrzanowska-Lightowlers, Z.M.10
-
4
-
-
18544384889
-
Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids
-
Baracca A, Solaini G, Sgarbi G, Lenaz G, Baruzzi A, Schapira AH, Martinuzzi A, Carelli V. 2005. Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids. Arch Neurol 62: 730-736.
-
(2005)
Arch Neurol
, vol.62
, pp. 730-736
-
-
Baracca, A.1
Solaini, G.2
Sgarbi, G.3
Lenaz, G.4
Baruzzi, A.5
Schapira, A.H.6
Martinuzzi, A.7
Carelli, V.8
-
5
-
-
80051946060
-
Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter
-
Baughman JM, Perocchi F, Girgis HS, Plovanich M, Belcher-Timme CA, Sancak Y, Bao XR, Strittmatter L, Goldberger O, Bogorad RL, et al. 2011. Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter. Nature 476: 341-345.
-
(2011)
Nature
, vol.476
, pp. 341-345
-
-
Baughman, J.M.1
Perocchi, F.2
Girgis, H.S.3
Plovanich, M.4
Belcher-Timme, C.A.5
Sancak, Y.6
Bao, X.R.7
Strittmatter, L.8
Goldberger, O.9
Bogorad, R.L.10
-
6
-
-
33646375711
-
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease
-
Bender A, Krishnan KJ, Morris CM, Taylor GA, Reeve AK, Perry RH, Jaros E, Hersheson JS, Betts J, Klopstock T, et al. 2006. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 38: 515-517.
-
(2006)
Nat Genet
, vol.38
, pp. 515-517
-
-
Bender, A.1
Krishnan, K.J.2
Morris, C.M.3
Taylor, G.A.4
Reeve, A.K.5
Perry, R.H.6
Jaros, E.7
Hersheson, J.S.8
Betts, J.9
Klopstock, T.10
-
7
-
-
0033681149
-
Chronic systemic pesticide exposure reproduces features of Parkinson's disease
-
Betarbet R, Sherer TB, MacKenzie G, Garcia-Osuna M, Panov AV, Greenamyre JT. 2000. Chronic systemic pesticide exposure reproduces features of Parkinson's disease. Nat Neurosci 3: 1301-1306.
-
(2000)
Nat Neurosci
, vol.3
, pp. 1301-1306
-
-
Betarbet, R.1
Sherer, T.B.2
MacKenzie, G.3
Garcia-Osuna, M.4
Panov, A.V.5
Greenamyre, J.T.6
-
8
-
-
41249098355
-
The layered structure of human mitochondrial DNA nucleoids
-
Bogenhagen DF, Rousseau D, Burke S. 2008. The layered structure of human mitochondrial DNA nucleoids. J Biol Chem 283: 3665-3675.
-
(2008)
J Biol Chem
, vol.283
, pp. 3665-3675
-
-
Bogenhagen, D.F.1
Rousseau, D.2
Burke, S.3
-
9
-
-
57849101997
-
Relationships among molecular genetic and respiratory properties of Parkinson's disease cybrid cells show similarities to Parkinson's brain tissues
-
Borland MK, Mohanakumar KP, Rubinstein JD, Keeney PM, Xie J, Capaldi R, Dunham LD, Trimmer PA, Bennett JP Jr. 2009. Relationships among molecular genetic and respiratory properties of Parkinson's disease cybrid cells show similarities to Parkinson's brain tissues. Biochim Biophys Acta 1792: 68-74.
-
(2009)
Biochim Biophys Acta
, vol.1792
, pp. 68-74
-
-
Borland, M.K.1
Mohanakumar, K.P.2
Rubinstein, J.D.3
Keeney, P.M.4
Xie, J.5
Capaldi, R.6
Dunham, L.D.7
Trimmer, P.A.8
Bennett Jr., J.P.9
-
10
-
-
80051601805
-
A two-state stabilization-change mechanism for proton-pumping complex I
-
Brandt U. 2011. A two-state stabilization-change mechanism for proton-pumping complex I. Biochim Biophys Acta 1807: 1364-1369.
-
(2011)
Biochim Biophys Acta
, vol.1807
, pp. 1364-1369
-
-
Brandt, U.1
-
11
-
-
0028788493
-
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
-
Brown MD, Torroni A, Reckord CL, Wallace DC. 1995. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum Mutat 6: 311-325.
-
(1995)
Hum Mutat
, vol.6
, pp. 311-325
-
-
Brown, M.D.1
Torroni, A.2
Reckord, C.L.3
Wallace, D.C.4
-
12
-
-
0031034482
-
Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
-
Brown MD, Sun F, Wallace DC. 1997. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 60: 381-387.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 381-387
-
-
Brown, M.D.1
Sun, F.2
Wallace, D.C.3
-
13
-
-
0034704125
-
Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's Hereditary Optic Neuropathy mtDNA mutation
-
Brown MD, Trounce IA, Jun AS, Allen JC, Wallace DC. 2000. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's Hereditary Optic Neuropathy mtDNA mutation. J Biol Chem 275: 39831-39836.
-
(2000)
J Biol Chem
, vol.275
, pp. 39831-39836
-
-
Brown, M.D.1
Trounce, I.A.2
Jun, A.S.3
Allen, J.C.4
Wallace, D.C.5
-
14
-
-
0035892808
-
Clinical, genetic, and biochemical characterization of a Leber Hereditary Optic Neuropathy family containing both the 11778 and 14484 primary mutations
-
Brown MD, Allen JC, Van Stavern GP, Newman NJ, Wallace DC. 2001. Clinical, genetic, and biochemical characterization of a Leber Hereditary Optic Neuropathy family containing both the 11778 and 14484 primary mutations. Am J Med Genet 104: 331-338.
-
(2001)
Am J Med Genet
, vol.104
, pp. 331-338
-
-
Brown, M.D.1
Allen, J.C.2
Van Stavern, G.P.3
Newman, N.J.4
Wallace, D.C.5
-
15
-
-
0036487995
-
The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup J
-
Brown MD, Starikovskaya E, Derbeneva O, Hosseini S, Allen JC, Mikhailovskaya IE, Sukernik RI, Wallace DC. 2002. The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet 110: 130-138.
-
(2002)
Hum Genet
, vol.110
, pp. 130-138
-
-
Brown, M.D.1
Starikovskaya, E.2
Derbeneva, O.3
Hosseini, S.4
Allen, J.C.5
Mikhailovskaya, I.E.6
Sukernik, R.I.7
Wallace, D.C.8
-
16
-
-
78649394537
-
Balance is the challenge-The impact of mitochondrial dynamics in Parkinson's disease
-
Burbulla LF, Krebiehl G, Kruger R. 2010. Balance is the challenge- The impact of mitochondrial dynamics in Parkinson's disease. Eur J Clin Invest 40: 1048-1060.
-
(2010)
Eur J Clin Invest
, vol.40
, pp. 1048-1060
-
-
Burbulla, L.F.1
Krebiehl, G.2
Kruger, R.3
-
17
-
-
0023163377
-
Mitochondrial DNA and human evolution
-
Cann RL, Stoneking M, Wilson AC. 1987. Mitochondrial DNA and human evolution. Nature 325: 31-36.
-
(1987)
Nature
, vol.325
, pp. 31-36
-
-
Cann, R.L.1
Stoneking, M.2
Wilson, A.C.3
-
18
-
-
77957239234
-
Neurotoxic in vivo models of Parkinson's disease recent advances. Prog
-
Cannon JR, Greenamyre JT. 2010. Neurotoxic in vivo models of Parkinson's disease recent advances. Prog Brain Res 184: 17-33.
-
(2010)
Brain Res
, vol.184
, pp. 17-33
-
-
Cannon, J.R.1
Greenamyre, J.T.2
-
19
-
-
18744426519
-
Leber's hereditary optic neuropathy: Biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype
-
CarelliV, Ghelli A, Ratta M, Bacchilega E, Sangiorgi S, Mancini R, Leuzzi V, Cortelli P, Montagna P, Lugaresi E, et al. 1997. Leber's hereditary optic neuropathy: Biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. Neurology 48: 1623-1632.
-
(1997)
Neurology
, vol.48
, pp. 1623-1632
-
-
Carelli, V.1
Ghelli, A.2
Ratta, M.3
Bacchilega, E.4
Sangiorgi, S.5
Mancini, R.6
Leuzzi, V.7
Cortelli, P.8
Montagna, P.9
Lugaresi, E.10
-
20
-
-
0033028388
-
Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy
-
Carelli V, Ghelli A, Bucchi L, Montagna P, De Negri A, Leuzzi V, Carducci C, Lenaz G, Lugaresi E, Degli Esposti M. 1999. Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. Ann Neurol 45: 320-328.
-
(1999)
Ann Neurol
, vol.45
, pp. 320-328
-
-
Carelli, V.1
Ghelli, A.2
Bucchi, L.3
Montagna, P.4
De Negri, A.5
Leuzzi, V.6
Carducci, C.7
Lenaz, G.8
Lugaresi, E.9
Degli Esposti, M.10
-
21
-
-
17744397107
-
Mitochondrial DNA haplogroups and APOE4 allele are nonindependent variables in sporadic Alzheimer's disease
-
Carrieri G, Bonafe M, De Luca M, Rose G, Varcasia O, Bruni A, Maletta R, Nacmias B, Sorbi S, Corsonello F, et al. 2001. Mitochondrial DNA haplogroups and APOE4 allele are nonindependent variables in sporadic Alzheimer's disease. Hum Genet 108: 194-198.
-
(2001)
Hum Genet
, vol.108
, pp. 194-198
-
-
Carrieri, G.1
Bonafe, M.2
De Luca, M.3
Rose, G.4
Varcasia, O.5
Bruni, A.6
Maletta, R.7
Nacmias, B.8
Sorbi, S.9
Corsonello, F.10
-
22
-
-
0033516529
-
Phylogenetic analysis of the mitochondrial genome indicates significant differences between patients with Alzheimer disease and controls in a French-Canadian founder population
-
Chagnon P, Gee M, Filion M, Robitaille Y, Belouchi M, Gauvreau D. 1999. Phylogenetic analysis of the mitochondrial genome indicates significant differences between patients with Alzheimer disease and controls in a French-Canadian founder population. Am J Med Genet 85: 20-30.
-
(1999)
Am J Med Genet
, vol.85
, pp. 20-30
-
-
Chagnon, P.1
Gee, M.2
Filion, M.3
Robitaille, Y.4
Belouchi, M.5
Gauvreau, D.6
-
23
-
-
79954520907
-
Broad activation of the ubiquitin-proteasome system by Parkin is critical for mitophagy
-
Chan NC, Salazar AM, Pham AH, Sweredoski MJ, Kolawa NJ, Graham RL, Hess S, Chan DC. 2011. Broad activation of the ubiquitin-proteasome system by Parkin is critical for mitophagy. Hum Mol Genet 20: 1726-1737.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1726-1737
-
-
Chan, N.C.1
Salazar, A.M.2
Pham, A.H.3
Sweredoski, M.J.4
Kolawa, N.J.5
Graham, R.L.6
Hess, S.7
Chan, D.C.8
-
24
-
-
27744491193
-
Emerging functions of mammalian mitochondrial fusion and fission
-
Chen H, Chan DC. 2005. Emerging functions of mammalian mitochondrial fusion and fission. Hum Mol Genet 14 (suppl 2): R283-R289.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.SUPPL 2
-
-
Chen, H.1
Chan, D.C.2
-
25
-
-
77951096150
-
Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases
-
Chen H, Chan DC. 2009. Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases. Hum Mol Genet 18: R169-R176.
-
(2009)
Hum Mol Genet
, vol.18
-
-
Chen, H.1
Chan, D.C.2
-
26
-
-
0029075655
-
Analysis of mtDNA variation in African populations reveals the most ancient of all human continentspecific haplogroups
-
Chen YS, Torroni A, Excoffier L, Santachiara-Benerecetti AS, Wallace DC. 1995. Analysis of mtDNA variation in African populations reveals the most ancient of all human continentspecific haplogroups. Am J Hum Genet 57: 133-149.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 133-149
-
-
Chen, Y.S.1
Torroni, A.2
Excoffier, L.3
Santachiara-Benerecetti, A.S.4
Wallace, D.C.5
-
27
-
-
77951737783
-
Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations
-
Chen H, Vermulst M, Wang YE, Chomyn A, Prolla TA, McCaffery JM, Chan DC. 2010. Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations. Cell 141: 280-289.
-
(2010)
Cell
, vol.141
, pp. 280-289
-
-
Chen, H.1
Vermulst, M.2
Wang, Y.E.3
Chomyn, A.4
Prolla, T.A.5
McCaffery, J.M.6
Chan, D.C.7
-
28
-
-
84934876775
-
The mitochondrial DNA polymerase in health and disease
-
Copeland WC. 2010. The mitochondrial DNA polymerase in health and disease. Subcell Biochem 50: 211-222.
-
(2010)
Subcell Biochem
, vol.50
, pp. 211-222
-
-
Copeland, W.C.1
-
29
-
-
0027017232
-
Mitochondrial DNA deletions in human brain: Regional variability and increase with advanced age
-
Corral-Debrinski M, Horton T, Lott MT, Shoffner JM, Beal MF, Wallace DC. 1992. Mitochondrial DNA deletions in human brain: Regional variability and increase with advanced age. Nat Genet 2: 324-329.
-
(1992)
Nat Genet
, vol.2
, pp. 324-329
-
-
Corral-Debrinski, M.1
Horton, T.2
Lott, M.T.3
Shoffner, J.M.4
Beal, M.F.5
Wallace, D.C.6
-
30
-
-
0027933135
-
Marked changes in mitochondrial DNA deletion levels in Alzheimer brains
-
Corral-Debrinski M, Horton T, Lott MT, Shoffner JM, McKee AC, Beal MF, Graham BH, Wallace DC. 1994. Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics 23: 471-476.
-
(1994)
Genomics
, vol.23
, pp. 471-476
-
-
Corral-Debrinski, M.1
Horton, T.2
Lott, M.T.3
Shoffner, J.M.4
McKee, A.C.5
Beal, M.F.6
Graham, B.H.7
Wallace, D.C.8
-
31
-
-
0026732706
-
A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues
-
Cortopassi GA, Shibata D, Soong NW, Arnheim N. 1992. A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues. Proc Natl Acad Sci 89: 7370-7374.
-
(1992)
Proc Natl Acad Sci
, vol.89
, pp. 7370-7374
-
-
Cortopassi, G.A.1
Shibata, D.2
Soong, N.W.3
Arnheim, N.4
-
32
-
-
0037418174
-
Control region mtDNA variants: Longevity, climatic adaptation and a forensic conundrum
-
Coskun PE, Ruiz-Pesini EE, Wallace DC. 2003. Control region mtDNA variants: Longevity, climatic adaptation and a forensic conundrum. Proc Natl Acad Sci 100: 2174-2176.
-
(2003)
Proc Natl Acad Sci
, vol.100
, pp. 2174-2176
-
-
Coskun, P.E.1
Ruiz-Pesini, E.E.2
Wallace, D.C.3
-
33
-
-
3242668604
-
Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication
-
Coskun PE, Beal MF, Wallace DC. 2004. Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication. Proc Natl Acad Sci 101: 10726-10731.
-
(2004)
Proc Natl Acad Sci
, vol.101
, pp. 10726-10731
-
-
Coskun, P.E.1
Beal, M.F.2
Wallace, D.C.3
-
34
-
-
77956197653
-
Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia
-
Coskun PE, Wyrembak J, Derbereva O, Melkonian G, Doran E, Lott IT, Head E, Cotman CW, Wallace DC. 2010. Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia. J Alzheimer's Dis 20 (suppl. 2): S293-S310.
-
(2010)
J Alzheimer's Dis
, vol.20
, Issue.SUPPL. 2
-
-
Coskun, P.E.1
Wyrembak, J.2
Derbereva, O.3
Melkonian, G.4
Doran, E.5
Lott, I.T.6
Head, E.7
Cotman, C.W.8
Wallace, D.C.9
-
35
-
-
84859421209
-
A mitochondrial etiology of Alzheimer and Parkinson disease
-
doi: 10.1016/j.bbagen.2011.08.008
-
Coskun P, Wyrembak J, Schriner S, Chen HW, Marciniack C, LaFerla F, Wallace DC. 2011. A mitochondrial etiology of Alzheimer and Parkinson disease. Biochim Biophys Acta doi: 10.1016/j.bbagen.2011.08.008.
-
(2011)
Biochim Biophys Acta
-
-
Coskun, P.1
Wyrembak, J.2
Schriner, S.3
Chen, H.W.4
Marciniack, C.5
LaFerla, F.6
Wallace, D.C.7
-
36
-
-
84455207168
-
Genetic variance in uncoupling protein 2 in relation to obesity, type 2 diabetes, and related metabolic traits: Focus on the functional -866G A promoter variant (rs659366)
-
Dalgaard LT. 2011. Genetic variance in uncoupling protein 2 in relation to obesity, type 2 diabetes, and related metabolic traits: Focus on the functional -866G.A promoter variant (rs659366). J Obes 2011: 1-12.
-
(2011)
J Obes
, vol.2011
, pp. 1-12
-
-
Dalgaard, L.T.1
-
37
-
-
0345262953
-
Ethnic variation in Hpa 1 endonuclease cleavage patterns of human mitochondrial DNA
-
Denaro M, Blanc H, Johnson MJ, Chen KH, Wilmsen E, Cavalli Sforza LL, Wallace DC. 1981. Ethnic variation in Hpa 1 endonuclease cleavage patterns of human mitochondrial DNA. Proc Natl Acad Sci 78: 5768-5772.
-
(1981)
Proc Natl Acad Sci
, vol.78
, pp. 5768-5772
-
-
Denaro, M.1
Blanc, H.2
Johnson, M.J.3
Chen, K.H.4
Wilmsen, E.5
Cavalli Sforza, L.L.6
Wallace, D.C.7
-
38
-
-
33745268224
-
Different conformations of amyloid b induce neurotoxicity by distinct mechanisms in human cortical neurons
-
Deshpande A, Mina E, Glabe C, Busciglio J. 2006. Different conformations of amyloid b induce neurotoxicity by distinct mechanisms in human cortical neurons. J Neurosci 26: 6011-6018.
-
(2006)
J Neurosci
, vol.26
, pp. 6011-6018
-
-
Deshpande, A.1
Mina, E.2
Glabe, C.3
Busciglio, J.4
-
39
-
-
80051936634
-
A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter
-
De Stefani D, Raffaello A, Teardo E, Szabo I, Rizzuto R. 2011. A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter. Nature 476: 336-340.
-
(2011)
Nature
, vol.476
, pp. 336-340
-
-
De Stefani, D.1
Raffaello, A.2
Teardo, E.3
Szabo, I.4
Rizzuto, R.5
-
40
-
-
80052068980
-
Structure of the membrane domain of respiratory complex I
-
Efremov RG, Sazanov LA. 2011. Structure of the membrane domain of respiratory complex I. Nature 476: 414-420.
-
(2011)
Nature
, vol.476
, pp. 414-420
-
-
Efremov, R.G.1
Sazanov, L.A.2
-
41
-
-
77952979824
-
The architecture of respiratory complex I
-
Efremov RG, Baradaran R, Sazanov LA. 2010. The architecture of respiratory complex I. Nature 465: 441-445.
-
(2010)
Nature
, vol.465
, pp. 441-445
-
-
Efremov, R.G.1
Baradaran, R.2
Sazanov, L.A.3
-
42
-
-
0035676129
-
Mutation analysis of peroxisome proliferator-activated receptor-g coactivator-1 (PGC-1) and relationships of identified amino acid polymorphisms to Type II diabetes mellitus
-
Ek J, Andersen G, Urhammer SA, Gaede PH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O. 2001. Mutation analysis of peroxisome proliferator-activated receptor-g coactivator-1 (PGC-1) and relationships of identified amino acid polymorphisms to Type II diabetes mellitus. Diabetologia 44: 2220-2226.
-
(2001)
Diabetologia
, vol.44
, pp. 2220-2226
-
-
Ek, J.1
Andersen, G.2
Urhammer, S.A.3
Gaede, P.H.4
Drivsholm, T.5
Borch-Johnsen, K.6
Hansen, T.7
Pedersen, O.8
-
43
-
-
39349105943
-
A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations
-
Fan W, Waymire K, Narula N, Li P, Rocher C, Coskun PE, Vannan MA, Narula J, MacGregor GR, Wallace DC. 2008. A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations. Science 319: 958-962.
-
(2008)
Science
, vol.319
, pp. 958-962
-
-
Fan, W.1
Waymire, K.2
Narula, N.3
Li, P.4
Rocher, C.5
Coskun, P.E.6
Vannan, M.A.7
Narula, J.8
MacGregor, G.R.9
Wallace, D.C.10
-
44
-
-
77952518584
-
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO
-
Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, et al. 2010. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. Neurology 74: 1619-1626.
-
(2010)
Neurology
, vol.74
, pp. 1619-1626
-
-
Fratter, C.1
Gorman, G.S.2
Stewart, J.D.3
Buddles, M.4
Smith, C.5
Evans, J.6
Seller, A.7
Poulton, J.8
Roberts, M.9
Hanna, M.G.10
-
45
-
-
79551548511
-
PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesis
-
Gegg ME, Schapira AH. 2011. PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesis. Autophagy 7: 243-245.
-
(2011)
Autophagy
, vol.7
, pp. 243-245
-
-
Gegg, M.E.1
Schapira, A.H.2
-
46
-
-
68949156130
-
Mitochondrial DNA nucleoids determine mitochondrial genetics and dysfunction
-
Gilkerson RW. 2009. Mitochondrial DNA nucleoids determine mitochondrial genetics and dysfunction. Int J Biochem Cell Biol 41: 1899-1906.
-
(2009)
Int J Biochem Cell Biol
, vol.41
, pp. 1899-1906
-
-
Gilkerson, R.W.1
-
47
-
-
33644861975
-
Common structure and toxic function of amyloid oligomers implies a common mechanism of pathogenesis
-
Glabe CG, Kayed R. 2006. Common structure and toxic function of amyloid oligomers implies a common mechanism of pathogenesis. Neurology 66: S74-S78.
-
(2006)
Neurology
, vol.66
-
-
Glabe, C.G.1
Kayed, R.2
-
48
-
-
77955364142
-
Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups
-
Gomez-Duran A, Pacheu-Grau D, Lopez-Gallardo E, Diez-Sanchez C, Montoya J, Lopez-Perez MJ, Ruiz-Pesini E. 2010. Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. Hum Mol Genet 19: 3343-3353.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3343-3353
-
-
Gomez-Duran, A.1
Pacheu-Grau, D.2
Lopez-Gallardo, E.3
Diez-Sanchez, C.4
Montoya, J.5
Lopez-Perez, M.J.6
Ruiz-Pesini, E.7
-
49
-
-
0025666322
-
A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Goto Y, Nonaka I, Horai S. 1990. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348: 651-653.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
50
-
-
79957923566
-
Mitochondria regulate autophagy by conserved signalling pathways
-
Graef M, Nunnari J. 2011a. Mitochondria regulate autophagy by conserved signalling pathways. EMBO J 30: 2101-2114.
-
(2011)
EMBO J
, vol.30
, pp. 2101-2114
-
-
Graef, M.1
Nunnari, J.2
-
51
-
-
80053390214
-
A role for mitochondria in autophagy regulation
-
Graef M, Nunnari J. 2011b. A role for mitochondria in autophagy regulation. Autophagy 7: 1245-1246.
-
(2011)
Autophagy
, vol.7
, pp. 1245-1246
-
-
Graef, M.1
Nunnari, J.2
-
52
-
-
78651440972
-
Leucinerich repeat kinase 2 and a-synuclein: Intersecting pathways in the pathogenesis of Parkinson's disease?
-
Greggio E, Bisaglia M, Civiero L, Bubacco L. 2011. Leucinerich repeat kinase 2 and a-synuclein: Intersecting pathways in the pathogenesis of Parkinson's disease? Mol Neurodegener 6: 6.
-
(2011)
Mol Neurodegener
, vol.6
, pp. 6
-
-
Greggio, E.1
Bisaglia, M.2
Civiero, L.3
Bubacco, L.4
-
53
-
-
77957222311
-
What have we learned from Drosophila models of Parkinson's disease? Prog
-
Guo M. 2010. What have we learned from Drosophila models of Parkinson's disease? Prog Brain Res 184: 3-16.
-
(2010)
Brain Res
, vol.184
, pp. 3-16
-
-
Guo, M.1
-
54
-
-
78649866553
-
Oxidant stress evoked by pacemaking in dopaminergic neurons is attenuated by DJ-1
-
Guzman JN, Sanchez-Padilla J, Wokosin D, Kondapalli J, Ilijic E, Schumacker PT, Surmeier DJ. 2010. Oxidant stress evoked by pacemaking in dopaminergic neurons is attenuated by DJ-1. Nature 468: 696-700.
-
(2010)
Nature
, vol.468
, pp. 696-700
-
-
Guzman, J.N.1
Sanchez-Padilla, J.2
Wokosin, D.3
Kondapalli, J.4
Ilijic, E.5
Schumacker, P.T.6
Surmeier, D.J.7
-
55
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan-Hughes JA. 1988. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717-719.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
56
-
-
0025910614
-
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
-
Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML. 1991. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 48: 1147-1153.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1147-1153
-
-
Huoponen, K.1
Vilkki, J.2
Aula, P.3
Nikoskelainen, E.K.4
Savontaus, M.L.5
-
57
-
-
0029091194
-
A mitochondrial DNA clone is associated with increased risk for Alzheimer disease
-
Hutchin T, Cortopassi G. 1995. A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. Proc Natl Acad Sci 92: 6892-6895.
-
(1995)
Proc Natl Acad Sci
, vol.92
, pp. 6892-6895
-
-
Hutchin, T.1
Cortopassi, G.2
-
58
-
-
0033772263
-
Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes
-
Inoue K, Nakada K, Ogura A, Isobe K, Goto Y, Nonaka I, Hayashi J-I. 2000. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet 26: 176-181.
-
(2000)
Nat Genet
, vol.26
, pp. 176-181
-
-
Inoue, K.1
Nakada, K.2
Ogura, A.3
Isobe, K.4
Goto, Y.5
Nonaka, I.6
Hayashi, J.-I.7
-
59
-
-
0032479524
-
Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex
-
Iwata S, Lee JW, Okada K, Lee JK, Iwata M, Rasmussen B, Link TA, Ramaswamy S, Jap BK. 1998. Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex. Science 281: 64-71.
-
(1998)
Science
, vol.281
, pp. 64-71
-
-
Iwata, S.1
Lee, J.W.2
Okada, K.3
Lee, J.K.4
Iwata, M.5
Rasmussen, B.6
Link, T.A.7
Ramaswamy, S.8
Jap, B.K.9
-
60
-
-
77951927411
-
The polymorphisms of UCP1 genes associated with fat metabolism, obesity and diabetes
-
Jia JJ, Tian YB, Cao ZH, Tao LL, Zhang X, Gao SZ, Ge CR, Lin QY, Jois M. 2010. The polymorphisms of UCP1 genes associated with fat metabolism, obesity and diabetes. Mol Biol Rep 37: 1513-1522.
-
(2010)
Mol Biol Rep
, vol.37
, pp. 1513-1522
-
-
Jia, J.J.1
Tian, Y.B.2
Cao, Z.H.3
Tao, L.L.4
Zhang, X.5
Gao, S.Z.6
Ge, C.R.7
Lin, Q.Y.8
Jois, M.9
-
61
-
-
0026757115
-
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
-
Johns DR, Neufeld MJ, Park RD. 1992. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 187: 1551-1557.
-
(1992)
Biochem Biophys Res Commun
, vol.187
, pp. 1551-1557
-
-
Johns, D.R.1
Neufeld, M.J.2
Park, R.D.3
-
62
-
-
0020959568
-
Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns
-
Johnson MJ, Wallace DC, Ferris SD, Rattazzi MC, Cavalli-Sforza LL. 1983. Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol 19: 255-271.
-
(1983)
J Mol Evol
, vol.19
, pp. 255-271
-
-
Johnson, M.J.1
Wallace, D.C.2
Ferris, S.D.3
Rattazzi, M.C.4
Cavalli-Sforza, L.L.5
-
63
-
-
0028342847
-
A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia
-
Jun AS, Brown MD, Wallace DC. 1994. A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia. Proc Natl Acad Sci 91: 6206-6210.
-
(1994)
Proc Natl Acad Sci
, vol.91
, pp. 6206-6210
-
-
Jun, A.S.1
Brown, M.D.2
Wallace, D.C.3
-
64
-
-
0030060823
-
Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia
-
Jun AS, Trounce IA, Brown MD, Shoffner JM, Wallace DC. 1996. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol Cell Biol 16: 771-777.
-
(1996)
Mol Cell Biol
, vol.16
, pp. 771-777
-
-
Jun, A.S.1
Trounce, I.A.2
Brown, M.D.3
Shoffner, J.M.4
Wallace, D.C.5
-
65
-
-
58849091290
-
Effects of UCP2 and UCP3 variants on the manifestation of overweight in Korean children
-
Jun HS, Kim IK, Lee HJ, Lee HJ, Kang JH, Kim JR, Shin HD, Song J. 2009. Effects of UCP2 and UCP3 variants on the manifestation of overweight in Korean children. Obesity 17: 355-362.
-
(2009)
Obesity
, vol.17
, pp. 355-362
-
-
Jun, H.S.1
Kim, I.K.2
Lee, H.J.3
Lee, H.J.4
Kang, J.H.5
Kim, J.R.6
Shin, H.D.7
Song, J.8
-
66
-
-
77958450202
-
Inhibition of mitochondrial fusion by a-synuclein is rescued by PINK1
-
Kamp F, Exner N, Lutz AK, Wender N, Hegermann J, Brunner B, Nuscher B, Bartels T, Giese A, Beyer K, et al. 2010. Inhibition of mitochondrial fusion by a-synuclein is rescued by PINK1, Parkin and DJ-1. EMBO J 29: 3571-3589.
-
(2010)
Parkin and DJ-1. EMBO J
, vol.29
, pp. 3571-3589
-
-
Kamp, F.1
Exner, N.2
Lutz, A.K.3
Wender, N.4
Hegermann, J.5
Brunner, B.6
Nuscher, B.7
Bartels, T.8
Giese, A.9
Beyer, K.10
-
67
-
-
33748087125
-
Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics
-
Kazuno AA, Munakata K, Nagai T, Shimozono S, Tanaka M, Yoneda M, Kato N, Miyawaki A, Kato T. 2006. Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics. PLoS Genet 2: e128.
-
(2006)
PLoS Genet
, vol.2
-
-
Kazuno, A.A.1
Munakata, K.2
Nagai, T.3
Shimozono, S.4
Tanaka, M.5
Yoneda, M.6
Kato, N.7
Miyawaki, A.8
Kato, T.9
-
68
-
-
71549164305
-
Cybrid models of Parkinson's disease show variable mitochondrial biogenesis and genotype-respiration relationships
-
Keeney PM, Dunham LD, Quigley CK, Morton SL, Bergquist KE, Bennett JP Jr. 2009. Cybrid models of Parkinson's disease show variable mitochondrial biogenesis and genotype- respiration relationships. Exp Neurol 220: 374-382.
-
(2009)
Exp Neurol
, vol.220
, pp. 374-382
-
-
Keeney, P.M.1
Dunham, L.D.2
Quigley, C.K.3
Morton, S.L.4
Bergquist, K.E.5
Bennett Jr., J.P.6
-
69
-
-
57349130113
-
Amitochondrial etiology of neurodegenerative diseases: Evidence from Parkinson's disease
-
Khusnutdinova E, Gilyazova I, Ruiz-Pesini E, Derbeneva O, Khusainova R, Khidiyatova I, Magzhanov R, Wallace DC. 2008.Amitochondrial etiology of neurodegenerative diseases: Evidence from Parkinson's disease. Ann NY Acad Sci 1147: 1-20.
-
(2008)
Ann NY Acad Sci
, vol.1147
, pp. 1-20
-
-
Khusnutdinova, E.1
Gilyazova, I.2
Ruiz-Pesini, E.3
Derbeneva, O.4
Khusainova, R.5
Khidiyatova, I.6
Magzhanov, R.7
Wallace, D.C.8
-
70
-
-
33646351299
-
Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons
-
Kraytsberg Y, Kudryavtseva E, McKee AC, Geula C, Kowall NW, Khrapko K. 2006. Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat Genet 38: 518-520.
-
(2006)
Nat Genet
, vol.38
, pp. 518-520
-
-
Kraytsberg, Y.1
Kudryavtseva, E.2
McKee, A.C.3
Geula, C.4
Kowall, N.W.5
Khrapko, K.6
-
71
-
-
77949623516
-
Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1
-
Krebiehl G, Ruckerbauer S, Burbulla LF, Kieper N, Maurer B, Waak J, Wolburg H, Gizatullina Z, Gellerich FN, Woitalla D, et al. 2010. Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1. PLoS One 5: e9367.
-
(2010)
PLoS One
, vol.5
-
-
Krebiehl, G.1
Ruckerbauer, S.2
Burbulla, L.F.3
Kieper, N.4
Maurer, B.5
Waak, J.6
Wolburg, H.7
Gizatullina, Z.8
Gellerich, F.N.9
Woitalla, D.10
-
73
-
-
22344456832
-
Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging
-
Kujoth GC, Hiona A, Pugh TD, Someya S, Panzer K, Wohlgemuth SE, Hofer T, Seo AY, Sullivan R, Jobling WA, et al. 2005. Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science 309: 481-484.
-
(2005)
Science
, vol.309
, pp. 481-484
-
-
Kujoth, G.C.1
Hiona, A.2
Pugh, T.D.3
Someya, S.4
Panzer, K.5
Wohlgemuth, S.E.6
Hofer, T.7
Seo, A.Y.8
Sullivan, R.9
Jobling, W.A.10
-
74
-
-
77954034861
-
Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort
-
Lakatos A, Derbeneva O, Younes D, Keator D, Bakken T, Lvova M, Brandon M, Guffanti G, Reglodi D, Saykin A, et al. 2010. Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort. Neurobiol Aging 31: 1355-1363.
-
(2010)
Neurobiol Aging
, vol.31
, pp. 1355-1363
-
-
Lakatos, A.1
Derbeneva, O.2
Younes, D.3
Keator, D.4
Bakken, T.5
Lvova, M.6
Brandon, M.7
Guffanti, G.8
Reglodi, D.9
Saykin, A.10
-
75
-
-
84988044805
-
The energetics of genome complexity
-
Lane N, MartinW. 2010. The energetics of genome complexity. Nature 467: 929-934.
-
(2010)
Nature
, vol.467
, pp. 929-934
-
-
Lane, N.1
Martin, W.2
-
76
-
-
0020680904
-
Chronic parkinsonism in humans due to a product of meperidine-analog synthesis
-
Langston JW, Ballard P, Tetrud JW, Irwin I. 1983. Chronic parkinsonism in humans due to a product of meperidine-analog synthesis. Science 219: 979-980.
-
(1983)
Science
, vol.219
, pp. 979-980
-
-
Langston, J.W.1
Ballard, P.2
Tetrud, J.W.3
Irwin, I.4
-
77
-
-
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, Anbinder Y, Berkowitz D, Hartman C, Barak M, 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
Anbinder, Y.7
Berkowitz, D.8
Hartman, C.9
Barak, M.10
-
78
-
-
79955701611
-
DJ-1 regulation of mitochondrial function and autophagy through oxidative stress
-
McCoy MK, Cookson MR. 2011. DJ-1 regulation of mitochondrial function and autophagy through oxidative stress. Autophagy 7: 531-532.
-
(2011)
Autophagy
, vol.7
, pp. 531-532
-
-
McCoy, M.K.1
Cookson, M.R.2
-
79
-
-
0026340064
-
The structure of human mitochondrial DNAvariation
-
MerriwetherDA, Clark AG, Ballinger SW, Schurr TG, SoodyallH, JenkinsT, Sherry ST, Wallace DC. 1991.The structure of human mitochondrial DNAvariation. J Mol Evol 33: 543-555.
-
(1991)
J Mol Evol
, vol.33
, pp. 543-555
-
-
Merriwether D, A.1
Clark, A.G.2
Ballinger, S.W.3
Schurr, T.G.4
Soodyall, H.5
Jenkins, T.6
Sherry, S.T.7
Wallace, D.C.8
-
80
-
-
0033595684
-
Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication
-
Michikawa Y, Mazzucchelli F, Bresolin N, Scarlato G, Attardi G. 1999. Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication. Science 286: 774-779.
-
(1999)
Science
, vol.286
, pp. 774-779
-
-
Michikawa, Y.1
Mazzucchelli, F.2
Bresolin, N.3
Scarlato, G.4
Attardi, G.5
-
81
-
-
0037422550
-
Natural selection shaped regional mtDNA variation in humans
-
Mishmar D, Ruiz-Pesini EE, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, et al. 2003. Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci 100: 171-176.
-
(2003)
Proc Natl Acad Sci
, vol.100
, pp. 171-176
-
-
Mishmar, D.1
Ruiz-Pesini, E.E.2
Golik, P.3
Macaulay, V.4
Clark, A.G.5
Hosseini, S.6
Brandon, M.7
Easley, K.8
Chen, E.9
Brown, M.D.10
-
82
-
-
33344470193
-
Differences of sperm motility in mitochondrial DNA haplogroup U sublineages
-
Montiel-Sosa F, Ruiz-Pesini E, Enriquez JA, Marcuello A, Diez-Sanchez C, Montoya J, Wallace DC, Lopez-Perez MJ. 2006. Differences of sperm motility in mitochondrial DNA haplogroup U sublineages. Gene 368C: 21-27.
-
(2006)
Gene 368C
, pp. 21-27
-
-
Montiel-Sosa, F.1
Ruiz-Pesini, E.2
Enriquez, J.A.3
Marcuello, A.4
Diez-Sanchez, C.5
Montoya, J.6
Wallace, D.C.7
Lopez-Perez, M.J.8
-
84
-
-
0037340930
-
.AGly482Ser missense mutation in the peroxisome proliferator-activated receptor g coactivator-1 is associated with altered lipid oxidation and early insulin secretion in Pima Indians
-
Muller YL, Bogardus C, Pedersen O, Baier L. 2003.AGly482Ser missense mutation in the peroxisome proliferator-activated receptor g coactivator-1 is associated with altered lipid oxidation and early insulin secretion in Pima Indians. Diabetes 52: 895-898.
-
(2003)
Diabetes
, vol.52
, pp. 895-898
-
-
Muller, Y.L.1
Bogardus, C.2
Pedersen, O.3
Baier, L.4
-
85
-
-
0034327572
-
The agerelated accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method
-
Murdock DG, Christacos NC, Wallace DC. 2000. The agerelated accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method. Nucl Acids Res 28: 4350-4355.
-
(2000)
Nucl Acids Res
, vol.28
, pp. 4350-4355
-
-
Murdock, D.G.1
Christacos, N.C.2
Wallace, D.C.3
-
86
-
-
58149314211
-
Parkin is recruited selectively to impaired mitochondria and promotes their autophagy
-
Narendra D, Tanaka A, Suen DF, Youle RJ. 2008. Parkin is recruited selectively to impaired mitochondria and promotes their autophagy. J Cell Biol 183: 795-803.
-
(2008)
J Cell Biol
, vol.183
, pp. 795-803
-
-
Narendra, D.1
Tanaka, A.2
Suen, D.F.3
Youle, R.J.4
-
87
-
-
75749156257
-
PINK1 is selectively stabilized on impaired mitochondria to activate Parkin
-
Narendra DP, Jin SM, Tanaka A, Suen DF, Gautier CA, Shen J, Cookson MR, Youle RJ. 2010. PINK1 is selectively stabilized on impaired mitochondria to activate Parkin. PLoS Biol 8: e1000298.
-
(2010)
PLoS Biol
, vol.8
-
-
Narendra, D.P.1
Jin, S.M.2
Tanaka, A.3
Suen, D.F.4
Gautier, C.A.5
Shen, J.6
Cookson, M.R.7
Youle, R.J.8
-
88
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I, Spinazzola A, 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
-
89
-
-
0042697305
-
Triple-transgenic model of Alzheimer's disease with plaques and tangles: Intracellular Ab and synaptic dysfunction
-
Oddo S, Caccamo A, Shepherd JD, Murphy MP, Golde TE, Kayed R, Metherate R, Mattson MP, Akbari Y, LaFerla FM. 2003. Triple-transgenic model of Alzheimer's disease with plaques and tangles: Intracellular Ab and synaptic dysfunction. Neuron 39: 409-421.
-
(2003)
Neuron
, vol.39
, pp. 409-421
-
-
Oddo, S.1
Caccamo, A.2
Shepherd, J.D.3
Murphy, M.P.4
Golde, T.E.5
Kayed, R.6
Metherate, R.7
Mattson, M.P.8
Akbari, Y.9
LaFerla, F.M.10
-
90
-
-
46349103594
-
A mitochondrial protein compendium elucidates complex I disease biology
-
Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, et al. 2008. A mitochondrial protein compendium elucidates complex I disease biology. Cell 134: 112-123.
-
(2008)
Cell
, vol.134
, pp. 112-123
-
-
Pagliarini, D.J.1
Calvo, S.E.2
Chang, B.3
Sheth, S.A.4
Vafai, S.B.5
Ong, S.E.6
Walford, G.A.7
Sugiana, C.8
Boneh, A.9
Chen, W.K.10
-
91
-
-
68449089420
-
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease
-
Potkin SG, Guffanti G, Lakatos A, Turner JA, Kruggel F, Fallon JH, Saykin AJ, Orro A, Lupoli S, Salvi E, et al. 2009. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. PLoS One 4: e6501.
-
(2009)
PLoS One
, vol.4
-
-
Potkin, S.G.1
Guffanti, G.2
Lakatos, A.3
Turner, J.A.4
Kruggel, F.5
Fallon, J.H.6
Saykin, A.J.7
Orro, A.8
Lupoli, S.9
Salvi, E.10
-
92
-
-
0028998413
-
Duplications of mitochondrial DNA in Kearns-Sayre syndrome
-
Poulton J, MortenKJ, Marchington D, WeberK, BrownGK, Rotig A, Bindoff L. 1995. Duplications of mitochondrial DNA in Kearns-Sayre syndrome. Muscle Nerve 3: S154-S158.
-
(1995)
Muscle Nerve
, vol.3
-
-
Poulton, J.1
Morten K, J.2
Marchington, D.3
Weber, K.4
Brown G, K.5
Rotig, A.6
Bindoff, L.7
-
93
-
-
77954091307
-
Mouse and human mitochondrial nucleoid-Detailed structure in relation to function
-
Prachar J. 2010. Mouse and human mitochondrial nucleoid- Detailed structure in relation to function. Gen Physiol Biophys 29: 160-174.
-
(2010)
Gen Physiol Biophys
, vol.29
, pp. 160-174
-
-
Prachar, J.1
-
94
-
-
70149117710
-
Origin of life on earth
-
Ricardo A, Szostak JW. 2009. Origin of life on earth. Sci Am 301: 54-61.
-
(2009)
Sci Am
, vol.301
, pp. 54-61
-
-
Ricardo, A.1
Szostak, J.W.2
-
95
-
-
57649131090
-
The medical and economic roles of pipeline pharmacogenetics: Alzheimer's disease as a model of efficacy and HLA-B(*)5701 as a model of safety
-
Roses AD. 2009. The medical and economic roles of pipeline pharmacogenetics: Alzheimer's disease as a model of efficacy and HLA-B(*)5701 as a model of safety. Neuropsychopharmacology 34: 6-17.
-
(2009)
Neuropsychopharmacology
, vol.34
, pp. 6-17
-
-
Roses, A.D.1
-
96
-
-
33750927660
-
Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA
-
Ruiz-Pesini E, Wallace DC. 2006. Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA. Hum Mutat 27: 1072-1081.
-
(2006)
Hum Mutat
, vol.27
, pp. 1072-1081
-
-
Ruiz-Pesini, E.1
Wallace, D.C.2
-
97
-
-
0033842465
-
Human mtDNA haplogroups associated with high or reduced spermatozoa motility
-
Ruiz-Pesini E, Lapena AC, Diez-Sanchez C, Perez-Martos A, Montoya J, Alvarez E, Diaz M, Urries A, Montoro L, Lopez-Perez MJ, et al. 2000. Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am J Hum Genet 67: 682-696.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 682-696
-
-
Ruiz-Pesini, E.1
Lapena, A.C.2
Diez-Sanchez, C.3
Perez-Martos, A.4
Montoya, J.5
Alvarez, E.6
Diaz, M.7
Urries, A.8
Montoro, L.9
Lopez-Perez, M.J.10
-
98
-
-
0347356538
-
Effects of purifying and adaptive selection on regional variation in human mtDNA
-
Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, Wallace DC. 2004. Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 303: 223-226.
-
(2004)
Science
, vol.303
, pp. 223-226
-
-
Ruiz-Pesini, E.1
Mishmar, D.2
Brandon, M.3
Procaccio, V.4
Wallace, D.C.5
-
99
-
-
33846094306
-
An enhanced MITOMAP with a global mtDNA mutational phylogeny
-
Ruiz-Pesini E, Lott MT, Procaccio V, Poole J, Brandon MC, Mishmar D, Yi C, Kreuziger J, Baldi P, Wallace DC. 2007. An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucl Acids Res 35: D823-D828.
-
(2007)
Nucl Acids Res
, vol.35
-
-
Ruiz-Pesini, E.1
Lott, M.T.2
Procaccio, V.3
Poole, J.4
Brandon, M.C.5
Mishmar, D.6
Yi, C.7
Kreuziger, J.8
Baldi, P.9
Wallace, D.C.10
-
100
-
-
77957822416
-
Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease
-
Santoro A, Balbi V, Balducci E, Pirazzini C, Rosini F, Tavano F, Achilli A, Siviero P, Minicuci N, BellavistaE, et al. 2010.Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease. PLoS One 5: e12037.
-
(2010)
PLoS One
, vol.5
, pp. 12037
-
-
Santoro, A.1
Balbi, V.2
Balducci, E.3
Pirazzini, C.4
Rosini, F.5
Tavano, F.6
Achilli, A.7
Siviero, P.8
Minicuci, N.9
Bellavista, E.10
-
101
-
-
0033525924
-
Oxidative phosphorylation at the fin de siecle
-
Saraste M. 1999. Oxidative phosphorylation at the fin de siecle. Science 283: 1488-1493.
-
(1999)
Science
, vol.283
, pp. 1488-1493
-
-
Saraste, M.1
-
102
-
-
76749138930
-
Functional complementation of mitochondrial DNAs: Mobilizing mitochondrial genetics against dysfunction
-
Schon EA, Gilkerson RW. 2010. Functional complementation of mitochondrial DNAs: Mobilizing mitochondrial genetics against dysfunction. Biochim Biophys Acta 1800: 245-249.
-
(2010)
Biochim Biophys Acta
, vol.1800
, pp. 245-249
-
-
Schon, E.A.1
Gilkerson, R.W.2
-
103
-
-
21144434217
-
Extension of murine life span by overexpression of catalase targeted to mitochondria
-
Schriner SE, Linford NJ, Martin GM, Treuting P, Ogburn CE, Emond M, Coskun PE, Ladiges W, Wolf N, Van Remmen H, et al. 2005. Extension of murine life span by overexpression of catalase targeted to mitochondria. Science 308: 1909-1911.
-
(2005)
Science
, vol.308
, pp. 1909-1911
-
-
Schriner, S.E.1
Linford, N.J.2
Martin, G.M.3
Treuting, P.4
Ogburn, C.E.5
Emond, M.6
Coskun, P.E.7
Ladiges, W.8
Wolf, N.9
Van Remmen, H.10
-
104
-
-
85015332136
-
Genetic diversity in modern African populations and its use for reconstructing ancient and modern population movements
-
(ed. Reed DM), occasional paper no Center for Archaeological Investigations, Southern Illinois University, Carbondale, IL
-
Schurr TG, Donham BP, Morreale SC, Panter-Brick C, Donham DL, Armelagos GJ, Wallace DC. 2005. Genetic diversity in modern African populations and its use for reconstructing ancient and modern population movements. In Biomolecular archeology, genetic approaches to the past (ed. Reed DM), occasional paper no. 31, 169-207. Center for Archaeological Investigations, Southern Illinois University, Carbondale, IL.
-
(2005)
In Biomolecular archeology, genetic approaches to the past
, vol.31
, pp. 169-207
-
-
Schurr, T.G.1
Donham, B.P.2
Morreale, S.C.3
Panter-Brick, C.4
Donham, D.L.5
Armelagos, G.J.6
Wallace, D.C.7
-
105
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation
-
Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. 1990. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 61: 931-937.
-
(1990)
Cell
, vol.61
, pp. 931-937
-
-
Shoffner, J.M.1
Lott, M.T.2
Lezza, A.M.3
Seibel, P.4
Ballinger, S.W.5
Wallace, D.C.6
-
106
-
-
0027200741
-
Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients
-
Shoffner JM, Brown MD, Torroni A, LottMT, Cabell MR, Mirra SS, Beal MF, Yang C, Gearing M, Salvo R, et al. 1993. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 17: 171-184.
-
(1993)
Genomics
, vol.17
, pp. 171-184
-
-
Shoffner, J.M.1
Brown, M.D.2
Torroni, A.3
Lott M, T.4
Cabell, M.R.5
Mirra, S.S.6
Beal, M.F.7
Yang, C.8
Gearing, M.9
Salvo, R.10
-
107
-
-
33751085653
-
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs
-
Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, et al. 2006. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet 79: 869-877.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 869-877
-
-
Smeitink, J.A.1
Elpeleg, O.2
Antonicka, H.3
Diepstra, H.4
Saada, A.5
Smits, P.6
Sasarman, F.7
Vriend, G.8
Jacob-Hirsch, J.9
Shaag, A.10
-
108
-
-
77949653045
-
A common polymorphism in the promoter of UCP2 is associated with obesity and hyperinsulenemia in northern Indians
-
Srivastava N, Prakash J, Lakhan R, Agarwal CG, Pant DC, Mittal B. 2010. A common polymorphism in the promoter of UCP2 is associated with obesity and hyperinsulenemia in northern Indians. Mol Cell Biochem 337: 293-298.
-
(2010)
Mol Cell Biochem
, vol.337
, pp. 293-298
-
-
Srivastava, N.1
Prakash, J.2
Lakhan, R.3
Agarwal, C.G.4
Pant, D.C.5
Mittal, B.6
-
109
-
-
38949091096
-
Strong purifying selection in transmission of mammalian mitochondrial DNA
-
Stewart JB, Freyer C, Elson JL, Wredenberg A, Cansu Z, Trifunovic A, Larsson NG. 2008. Strong purifying selection in transmission of mammalian mitochondrial DNA. PLoS Biol 6: e10.
-
(2008)
PLoS Biol
, vol.6
-
-
Stewart, J.B.1
Freyer, C.2
Elson, J.L.3
Wredenberg, A.4
Cansu, Z.5
Trifunovic, A.6
Larsson, N.G.7
-
110
-
-
16944363113
-
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
-
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, et al. 1997. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60: 1107-1121.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1107-1121
-
-
Torroni, A.1
Petrozzi, M.2
D'Urbano, L.3
Sellitto, D.4
Zeviani, M.5
Carrara, F.6
Carducci, C.7
Leuzzi, V.8
Carelli, V.9
Barboni, P.10
-
111
-
-
2642580016
-
Premature ageing in mice expressing defective mitochondrial DNA polymerase
-
Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly YM, Gidlof S, Oldfors A, Wibom R, et al. 2004. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429: 417-423.
-
(2004)
Nature
, vol.429
, pp. 417-423
-
-
Trifunovic, A.1
Wredenberg, A.2
Falkenberg, M.3
Spelbrink, J.N.4
Rovio, A.T.5
Bruder, C.E.6
Bohlooly, Y.M.7
Gidlof, S.8
Oldfors, A.9
Wibom, R.10
-
112
-
-
67649806929
-
The cybrid model of sporadic Parkinson's disease
-
Trimmer PA, Bennett JP Jr. 2009. The cybrid model of sporadic Parkinson's disease. Exp Neurol 218: 320-325.
-
(2009)
Exp Neurol
, vol.218
, pp. 320-325
-
-
Trimmer, P.A.1
Bennett Jr., J.P.2
-
113
-
-
0029942862
-
The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2
-
Tsukihara T, Aoyama H, Yamashita E, Tomizaki T, Yamaguchi H, Shinzawa-Itoh K, Nakashima R, Yaono R, Yoshikawa S. 1996. The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A. Science 272: 1136-1144.
-
(1996)
Science
, vol.272
, pp. 1136-1144
-
-
Tsukihara, T.1
Aoyama, H.2
Yamashita, E.3
Tomizaki, T.4
Yamaguchi, H.5
Shinzawa-Itoh, K.6
Nakashima, R.7
Yaono, R.8
Yoshikawa, S.9
-
114
-
-
29144486726
-
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
-
Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, Jalanko A, Spelbrink JN, Paetau A, Suomalainen A. 2005. Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. Proc Natl Acad Sci 102: 17687-17692.
-
(2005)
Proc Natl Acad Sci
, vol.102
, pp. 17687-17692
-
-
Tyynismaa, H.1
Mjosund, K.P.2
Wanrooij, S.3
Lappalainen, I.4
Ylikallio, E.5
Jalanko, A.6
Spelbrink, J.N.7
Paetau, A.8
Suomalainen, A.9
-
115
-
-
66849130909
-
Mitochondrial DNA haplogroups associated with age-related macular degeneration
-
Udar N, Atilano SR, Memarzadeh M, Boyer DS, Chwa M, Lu S, Maguen B, Langberg J, Coskun P, Wallace DC, et al. 2009. Mitochondrial DNA haplogroups associated with age-related macular degeneration. Invest Ophthalmol Vis Sci 50: 2966-2974.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 2966-2974
-
-
Udar, N.1
Atilano, S.R.2
Memarzadeh, M.3
Boyer, D.S.4
Chwa, M.5
Lu, S.6
Maguen, B.7
Langberg, J.8
Coskun, P.9
Wallace, D.C.10
-
116
-
-
0026603422
-
Mutations in mitochondrial tRNA genes: Non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia
-
van den Ouweland JM, Bruining GJ, Lindhout D, Wit JM, Veldhuyzen BF, Maassen JA. 1992. Mutations in mitochondrial tRNA genes: Non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. Nucl Acids Res 20: 679-682.
-
(1992)
Nucl Acids Res
, vol.20
, pp. 679-682
-
-
van den Ouweland, J.M.1
Bruining, G.J.2
Lindhout, D.3
Wit, J.M.4
Veldhuyzen, B.F.5
Maassen, J.A.6
-
117
-
-
3242707016
-
Analysis of European mitochondrial haplogroups with Alzheimer disease risk
-
van der Walt JM, Dementieva YA, Martin ER, Scott WK, Nicodemus KK, Kroner CC, Welsh-Bohmer KA, Saunders AM, Roses AD, SmallGW, et al. 2004. Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett 365: 28-32.
-
(2004)
Neurosci Lett
, vol.365
, pp. 28-32
-
-
van der Walt, J.M.1
Dementieva, Y.A.2
Martin, E.R.3
Scott, W.K.4
Nicodemus, K.K.5
Kroner, C.C.6
Welsh-Bohmer, K.A.7
Saunders, A.M.8
Roses, A.D.9
Small, G.W.10
-
118
-
-
0026624980
-
Diseases of the mitochondrial DNA
-
Wallace DC. 1992a. Diseases of the mitochondrial DNA. Annu Rev Biochem 61: 1175-1212.
-
(1992)
Annu Rev Biochem
, vol.61
, pp. 1175-1212
-
-
Wallace, D.C.1
-
119
-
-
0026587335
-
Mitochondrial genetics: A paradigm for aging and degenerative diseases?
-
Wallace DC. 1992b. Mitochondrial genetics: A paradigm for aging and degenerative diseases? Science 256: 628-632.
-
(1992)
Science
, vol.256
, pp. 628-632
-
-
Wallace, D.C.1
-
120
-
-
0028574053
-
MitochondrialDNAsequence variation in human evolution and disease
-
Wallace DC. 1994. MitochondrialDNAsequence variation in human evolution and disease. Proc Natl Acad Sci 91: 8739-8746.
-
(1994)
Proc Natl Acad Sci
, vol.91
, pp. 8739-8746
-
-
Wallace, D.C.1
-
121
-
-
23844558266
-
A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine
-
Wallace DC. 2005. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine. Annu Rev Genet 39: 359-407.
-
(2005)
Annu Rev Genet
, vol.39
, pp. 359-407
-
-
Wallace, D.C.1
-
122
-
-
34548614520
-
Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine
-
Wallace DC. 2007. Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine. Annu Rev Biochem 76: 781-821.
-
(2007)
Annu Rev Biochem
, vol.76
, pp. 781-821
-
-
Wallace, D.C.1
-
123
-
-
49849088591
-
Mitochondria as chi
-
Wallace DC. 2008. Mitochondria as chi. Genetics 179: 727-735.
-
(2008)
Genetics
, vol.179
, pp. 727-735
-
-
Wallace, D.C.1
-
124
-
-
77957730674
-
Mitochondria, bioenergetics, and the epigenome in eukaryotic and human evolution
-
Wallace DC. 2009. Mitochondria, bioenergetics, and the epigenome in eukaryotic and human evolution. Cold Spring Harb Symp Quant Biol 74: 383-393.
-
(2009)
Cold Spring Harb Symp Quant Biol
, vol.74
, pp. 383-393
-
-
Wallace, D.C.1
-
125
-
-
77952415166
-
Colloquium paper: Bioenergetics, the origins of complexity, and the ascent of man
-
Wallace DC. 2010. Colloquium paper: Bioenergetics, the origins of complexity, and the ascent of man. Proc Natl Acad Sci 107 (suppl 2): 8947-8953.
-
(2010)
Proc Natl Acad Sci
, vol.107
, Issue.SUPPL 2
, pp. 8947-8953
-
-
Wallace, D.C.1
-
126
-
-
70450231612
-
Energetics, epigenetics, mitochondrial genetics
-
Wallace DC, Fan W. 2010. Energetics, epigenetics, mitochondrial genetics. Mitochondrion 10: 12-31.
-
(2010)
Mitochondrion
, vol.10
, pp. 12-31
-
-
Wallace, D.C.1
Fan, W.2
-
127
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ, Nikoskelainen EK. 1988a. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242: 1427-1430.
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
Elsas, L.J.7
Nikoskelainen, E.K.8
-
128
-
-
0024163051
-
Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
-
Wallace DC, Zheng X, Lott MT, Shoffner JM, Hodge JA, Kelley RI, Epstein CM, Hopkins LC. 1988b. Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55: 601-610.
-
(1988)
Cell
, vol.55
, pp. 601-610
-
-
Wallace, D.C.1
Zheng, X.2
Lott, M.T.3
Shoffner, J.M.4
Hodge, J.A.5
Kelley, R.I.6
Epstein, C.M.7
Hopkins, L.C.8
-
129
-
-
0032833421
-
Mitochondrial DNA variation in human evolution and disease
-
Wallace DC, Brown MD, Lott MT. 1999. Mitochondrial DNA variation in human evolution and disease. Gene 238: 211-230.
-
(1999)
Gene
, vol.238
, pp. 211-230
-
-
Wallace, D.C.1
Brown, M.D.2
Lott, M.T.3
-
130
-
-
3242676865
-
MtDNA variation, climatic adaptation, degenerative diseases, and longevity
-
Wallace DC, Ruiz-Pesini E, Mishmar D. 2003. MtDNA variation, climatic adaptation, degenerative diseases, and longevity. Cold Spring Harb Symp Quant Biol 68: 479-486.
-
(2003)
Cold Spring Harb Symp Quant Biol
, vol.68
, pp. 479-486
-
-
Wallace, D.C.1
Ruiz-Pesini, E.2
Mishmar, D.3
-
131
-
-
33846064419
-
Mitochondrial genes in degenerative diseases, cancer and aging
-
5th ed. (ed. Rimoin DL et al.), pp. 194-298. Churchill Livingstone/ Elsevier, Philadelphia
-
Wallace DC, Lott MT, Procaccio V. 2007. Mitochondrial genes in degenerative diseases, cancer and aging. In Emery and Rimoin's principles and practice of medical genetics, 5th ed. (ed. Rimoin DL et al.), pp. 194-298. Churchill Livingstone/ Elsevier, Philadelphia.
-
IEmery and Rimoin's principles and practice of medical genetics
-
-
Wallace, D.C.1
Lott, M.T.2
Procaccio, V.3
-
133
-
-
0035957323
-
Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication
-
Wang Y, Michikawa Y, Mallidis C, Bai Y, Woodhouse L, Yarasheski KE, Miller CA, Askanas V, Engel WK, Bhasin S, et al. 2001. Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication. Proc Natl Acad Sci 98: 4022-4027.
-
(2001)
Proc Natl Acad Sci
, vol.98
, pp. 4022-4027
-
-
Wang, Y.1
Michikawa, Y.2
Mallidis, C.3
Bai, Y.4
Woodhouse, L.5
Yarasheski, K.E.6
Miller, C.A.7
Askanas, V.8
Engel, W.K.9
Bhasin, S.10
-
134
-
-
78049288139
-
Bioenergetic cost of making an adenosine triphosphate molecule in animal mitochondria
-
Watt IN, Montgomery MG, Runswick MJ, Leslie AG, Walker JE. 2010. Bioenergetic cost of making an adenosine triphosphate molecule in animal mitochondria. Proc Natl Acad Sci 107: 16823-16827.
-
(2010)
Proc Natl Acad Sci
, vol.107
, pp. 16823-16827
-
-
Watt, I.N.1
Montgomery, M.G.2
Runswick, M.J.3
Leslie, A.G.4
Walker, J.E.5
-
135
-
-
0025250482
-
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease
-
Zeviani M, Bresolin N, Gellera C, Bordoni A, Pannacci M, Amati P, Moggio M, Servidei S, Scarlato G, DiDonato S. 1990. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease. Am J Hum Genet 47: 904-914.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 904-914
-
-
Zeviani, M.1
Bresolin, N.2
Gellera, C.3
Bordoni, A.4
Pannacci, M.5
Amati, P.6
Moggio, M.7
Servidei, S.8
Scarlato, G.9
DiDonato, S.10
-
136
-
-
0037417898
-
Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes
-
Zhang J, Asin-Cayuela J, Fish J, Michikawa Y, Bonafe M, Olivieri F, Passarino G, DeBenedictis G, Franceschi C, Attardi G. 2003. Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes. Proc Natl Acad Sci 100: 1116-1121.
-
(2003)
Proc Natl Acad Sci
, vol.100
, pp. 1116-1121
-
-
Zhang, J.1
Asin-Cayuela, J.2
Fish, J.3
Michikawa, Y.4
Bonafe, M.5
Olivieri, F.6
Passarino, G.7
DeBenedictis, G.8
Franceschi, C.9
Attardi, G.10
-
137
-
-
77950275298
-
Circulating mitochondrial DAMPs cause inflammatory responses to injury
-
Zhang Q, Raoof M, Chen Y, Sumi Y, Sursal T, JungerW, Brohi K, Itagaki K, Hauser CJ. 2010. Circulating mitochondrial DAMPs cause inflammatory responses to injury. Nature 464: 104-107.
-
(2010)
Nature
, vol.464
, pp. 104-107
-
-
Zhang, Q.1
Raoof, M.2
Chen, Y.3
Sumi, Y.4
Sursal, T.5
Junger, W.6
Brohi, K.7
Itagaki, K.8
Hauser, C.J.9
-
138
-
-
77956213267
-
Mitochondrial dysfunction in Parkinson's disease
-
Zhu J, Chu CT. 2010. Mitochondrial dysfunction in Parkinson's disease. J Alzheimer's Dis 20 (suppl 2): S325-S334.
-
(2010)
J Alzheimer's Dis
, vol.20
, Issue.SUPPL 2
-
-
Zhu, J.1
Chu, C.T.2
-
139
-
-
77955437274
-
How could Parkin-mediated ubiquitination of mitofusin promote mitophagy?
-
Ziviani E, Whitworth AJ. 2010. How could Parkin-mediated ubiquitination of mitofusin promote mitophagy? Autophagy 6: 660-662.
-
(2010)
Autophagy
, vol.6
, pp. 660-662
-
-
Ziviani, E.1
Whitworth, A.J.2
|