-
1
-
-
20344384545
-
Surveyor nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects
-
Bannwarth S., Procaccio V., and Paquis-Flucklinger V. Surveyor nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects. Hum. Mutat. 25 (2005) 575-582
-
(2005)
Hum. Mutat.
, vol.25
, pp. 575-582
-
-
Bannwarth, S.1
Procaccio, V.2
Paquis-Flucklinger, V.3
-
2
-
-
34248647282
-
Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease
-
Bannwarth S., Procaccio V., and Paquis-Flucklinger V. Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease. Nat. Protoc. 1 (2006) 2037-2047
-
(2006)
Nat. Protoc.
, vol.1
, pp. 2037-2047
-
-
Bannwarth, S.1
Procaccio, V.2
Paquis-Flucklinger, V.3
-
3
-
-
33646375711
-
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease
-
Bender A., Krishnan K.J., Morris C.M., Taylor G.A., Reeve A.K., Perry R.H., Jaros E., Hersheson J.S., Betts J., Klopstock T., Taylor R.W., and Turnbull D.M. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat. Genet. 38 (2006) 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
Taylor, R.W.11
Turnbull, D.M.12
-
4
-
-
60049095102
-
Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions
-
Bender A., Schwarzkopf R.M., McMillan A., Krishnan K.J., Rieder G., Neumann M., Elstner M., Turnbull D.M., and Klopstock T. Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions. J. Neurol. 255 (2008) 1231-1235
-
(2008)
J. Neurol.
, vol.255
, pp. 1231-1235
-
-
Bender, A.1
Schwarzkopf, R.M.2
McMillan, A.3
Krishnan, K.J.4
Rieder, G.5
Neumann, M.6
Elstner, M.7
Turnbull, D.M.8
Klopstock, T.9
-
5
-
-
57849101997
-
Relationships among molecular genetic and respiratory properties of Parkinson's disease cybrid cells show similarities to Parkinson's brain tissues
-
Borland M.K., Mohanakumar K.P., Rubinstein J.D., Keeney P.M., Xie J., Capaldi R., Dunham L.D., Trimmer P.A., and Bennett Jr. J.P. Relationships among molecular genetic and respiratory properties of Parkinson's disease cybrid cells show similarities to Parkinson's brain tissues. Biochim. Biophys. Acta 1792 (2009) 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
-
6
-
-
0035104181
-
alpha-synuclein immunopositive Parkinson's disease-related inclusion bodies in lower brain stem nuclei
-
Braak E., Sandmann-Keil D., Rub U., Gai W.P., de Vos R.A., Steur E.N., Arai K., and Braak H. alpha-synuclein immunopositive Parkinson's disease-related inclusion bodies in lower brain stem nuclei. Acta Neuropathol. (Berl) 101 (2001) 195-201
-
(2001)
Acta Neuropathol. (Berl)
, vol.101
, pp. 195-201
-
-
Braak, E.1
Sandmann-Keil, D.2
Rub, U.3
Gai, W.P.4
de Vos, R.A.5
Steur, E.N.6
Arai, K.7
Braak, H.8
-
7
-
-
32544442518
-
Gastric alpha-synuclein immunoreactive inclusions in Meissner's and Auerbach's plexuses in cases staged for Parkinson's disease-related brain pathology
-
Braak H., de Vos R.A., Bohl J., and Del Tredici K. Gastric alpha-synuclein immunoreactive inclusions in Meissner's and Auerbach's plexuses in cases staged for Parkinson's disease-related brain pathology. Neurosci. Lett. 396 (2006) 67-72
-
(2006)
Neurosci. Lett.
, vol.396
, pp. 67-72
-
-
Braak, H.1
de Vos, R.A.2
Bohl, J.3
Del Tredici, K.4
-
8
-
-
0037333666
-
Staging of brain pathology related to sporadic Parkinson's disease
-
Braak H., Del Tredici K., Rub U., de Vos R.A., Jansen Steur E.N., and Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol. Aging 24 (2003) 197-211
-
(2003)
Neurobiol. Aging
, vol.24
, pp. 197-211
-
-
Braak, H.1
Del Tredici, K.2
Rub, U.3
de Vos, R.A.4
Jansen Steur, E.N.5
Braak, E.6
-
9
-
-
5444255434
-
Stages in the development of Parkinson's disease-related pathology
-
Braak H., Ghebremedhin E., Rub U., Bratzke H., and Del Tredici K. Stages in the development of Parkinson's disease-related pathology. Cell Tissue Res. 318 (2004) 121-134
-
(2004)
Cell Tissue Res.
, vol.318
, pp. 121-134
-
-
Braak, H.1
Ghebremedhin, E.2
Rub, U.3
Bratzke, H.4
Del Tredici, K.5
-
10
-
-
0033538002
-
Extensive axonal Lewy neurites in Parkinson's disease: a novel pathological feature revealed by alpha-synuclein immunocytochemistry
-
Braak H., Sandmann-Keil D., Gai W., and Braak E. Extensive axonal Lewy neurites in Parkinson's disease: a novel pathological feature revealed by alpha-synuclein immunocytochemistry. Neurosci. Lett. 265 (1999) 67-69
-
(1999)
Neurosci. Lett.
, vol.265
, pp. 67-69
-
-
Braak, H.1
Sandmann-Keil, D.2
Gai, W.3
Braak, E.4
-
11
-
-
0031455734
-
Elevated reactive oxygen species and antioxidant enzyme activities in animal and cellular models of Parkinson's disease
-
Cassarino D.S., Fall C.P., Swerdlow R.H., Smith T.S., Halvorsen E.M., Miller S.W., Parks J.P., Parker Jr. W.D., and Bennett Jr. J.P. Elevated reactive oxygen species and antioxidant enzyme activities in animal and cellular models of Parkinson's disease. Biochim. Biophys. Acta 1362 (1997) 77-86
-
(1997)
Biochim. Biophys. Acta
, vol.1362
, pp. 77-86
-
-
Cassarino, D.S.1
Fall, C.P.2
Swerdlow, R.H.3
Smith, T.S.4
Halvorsen, E.M.5
Miller, S.W.6
Parks, J.P.7
Parker Jr., W.D.8
Bennett Jr., J.P.9
-
12
-
-
0035160270
-
Tissue oxygen tension and brain sensitivity to hypoxia
-
Erecinska M., and Silver I.A. Tissue oxygen tension and brain sensitivity to hypoxia. Respir. Physiol. 128 (2001) 263-276
-
(2001)
Respir. Physiol.
, vol.128
, pp. 263-276
-
-
Erecinska, M.1
Silver, I.A.2
-
13
-
-
0842334759
-
Oxygen conformance of cellular respiration. A perspective of mitochondrial physiology
-
Gnaiger E. Oxygen conformance of cellular respiration. A perspective of mitochondrial physiology. Adv. Exp. Med. Biol. 543 (2003) 39-55
-
(2003)
Adv. Exp. Med. Biol.
, vol.543
, pp. 39-55
-
-
Gnaiger, E.1
-
14
-
-
0036639779
-
The mitochondrial DNA polymerase as a target of oxidative damage
-
Graziewicz M.A., Day B.J., and Copeland W.C. The mitochondrial DNA polymerase as a target of oxidative damage. Nucleic Acids Res. 30 (2002) 2817-2824
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 2817-2824
-
-
Graziewicz, M.A.1
Day, B.J.2
Copeland, W.C.3
-
15
-
-
39849094082
-
Transient hypoxia stimulates mitochondrial biogenesis in brain subcortex by a neuronal nitric oxide synthase-dependent mechanism
-
Gutsaeva D.R., Carraway M.S., Suliman H.B., Demchenko I.T., Shitara H., Yonekawa H., and Piantadosi C.A. Transient hypoxia stimulates mitochondrial biogenesis in brain subcortex by a neuronal nitric oxide synthase-dependent mechanism. J. Neurosci. 28 (2008) 2015-2024
-
(2008)
J. Neurosci.
, vol.28
, pp. 2015-2024
-
-
Gutsaeva, D.R.1
Carraway, M.S.2
Suliman, H.B.3
Demchenko, I.T.4
Shitara, H.5
Yonekawa, H.6
Piantadosi, C.A.7
-
16
-
-
29744454546
-
High-resolution respirometry-a modern tool in aging research
-
Hutter E., Unterluggauer H., Garedew A., Jansen-Durr P., and Gnaiger E. High-resolution respirometry-a modern tool in aging research. Exp. Gerontol. 41 (2006) 103-109
-
(2006)
Exp. Gerontol.
, vol.41
, pp. 103-109
-
-
Hutter, E.1
Unterluggauer, H.2
Garedew, A.3
Jansen-Durr, P.4
Gnaiger, E.5
-
17
-
-
33646351299
-
Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons
-
Kraytsberg Y., Kudryavtseva E., McKee A.C., Geula C., Kowall N.W., and Khrapko K. Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat. Genet. 38 (2006) 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
-
18
-
-
57649188649
-
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study
-
Latourelle J.C., Sun M., Lew M.F., Suchowersky O., Klein C., Golbe L.I., Mark M.H., Growdon J.H., Wooten G.F., Watts R.L., Guttman M., Racette B.A., Perlmutter J.S., Ahmed A., Shill H.A., Singer C., Goldwurm S., Pezzoli G., Zini M., Saint-Hilaire M.H., Hendricks A.E., Williamson S., Nagle M.W., Wilk J.B., Massood T., Huskey K.W., Laramie J.M., DeStefano A.L., Baker K.B., Itin I., Litvan I., Nicholson G., Corbett A., Nance M., Drasby E., Isaacson S., Burn D.J., Chinnery P.F., Pramstaller P.P., Al-hinti J., Moller A.T., Ostergaard K., Sherman S.J., Roxburgh R., Snow B., Slevin J.T., Cambi F., Gusella J.F., and Myers R.H. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med. 6 (2008) 32
-
(2008)
BMC Med.
, vol.6
, pp. 32
-
-
Latourelle, J.C.1
Sun, M.2
Lew, M.F.3
Suchowersky, O.4
Klein, C.5
Golbe, L.I.6
Mark, M.H.7
Growdon, J.H.8
Wooten, G.F.9
Watts, R.L.10
Guttman, M.11
Racette, B.A.12
Perlmutter, J.S.13
Ahmed, A.14
Shill, H.A.15
Singer, C.16
Goldwurm, S.17
Pezzoli, G.18
Zini, M.19
Saint-Hilaire, M.H.20
Hendricks, A.E.21
Williamson, S.22
Nagle, M.W.23
Wilk, J.B.24
Massood, T.25
Huskey, K.W.26
Laramie, J.M.27
DeStefano, A.L.28
Baker, K.B.29
Itin, I.30
Litvan, I.31
Nicholson, G.32
Corbett, A.33
Nance, M.34
Drasby, E.35
Isaacson, S.36
Burn, D.J.37
Chinnery, P.F.38
Pramstaller, P.P.39
Al-hinti, J.40
Moller, A.T.41
Ostergaard, K.42
Sherman, S.J.43
Roxburgh, R.44
Snow, B.45
Slevin, J.T.46
Cambi, F.47
Gusella, J.F.48
Myers, R.H.49
more..
-
19
-
-
17344368267
-
Mitochondrial dysfunction in idiopathic Parkinson disease
-
Parker Jr. W.D., and Swerdlow R.H. Mitochondrial dysfunction in idiopathic Parkinson disease. Am. J. Hum. Genet. 62 (1998) 758-762
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 758-762
-
-
Parker Jr., W.D.1
Swerdlow, R.H.2
-
20
-
-
6044224891
-
Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations
-
Pecina P., Gnaiger E., Zeman J., Pronicka E., and Houstek J. Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations. Am. J. Physiol. Cell Physiol. 287 (2004) C1384-1388
-
(2004)
Am. J. Physiol. Cell Physiol.
, vol.287
-
-
Pecina, P.1
Gnaiger, E.2
Zeman, J.3
Pronicka, E.4
Houstek, J.5
-
21
-
-
38749102795
-
Nature of mitochondrial DNA deletions in substantia nigra neurons
-
Reeve A.K., Krishnan K.J., Elson J.L., Morris C.M., Bender A., Lightowlers R.N., and Turnbull D.M. Nature of mitochondrial DNA deletions in substantia nigra neurons. Am. J. Hum. Genet. 82 (2008) 228-235
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 228-235
-
-
Reeve, A.K.1
Krishnan, K.J.2
Elson, J.L.3
Morris, C.M.4
Bender, A.5
Lightowlers, R.N.6
Turnbull, D.M.7
-
22
-
-
33645011201
-
Nuclear control of respiratory gene expression in mammalian cells
-
Scarpulla R.C. Nuclear control of respiratory gene expression in mammalian cells. J. Cell. Biochem. 97 (2006) 673-683
-
(2006)
J. Cell. Biochem.
, vol.97
, pp. 673-683
-
-
Scarpulla, R.C.1
-
23
-
-
42049114034
-
Transcriptional paradigms in mammalian mitochondrial biogenesis and function
-
Scarpulla R.C. Transcriptional paradigms in mammalian mitochondrial biogenesis and function. Physiol. Rev. 88 (2008) 611-638
-
(2008)
Physiol. Rev.
, vol.88
, pp. 611-638
-
-
Scarpulla, R.C.1
-
24
-
-
24944435398
-
Mitochondrial microheteroplasmy and a theory of aging and age-related disease
-
Smigrodzki R.M., and Khan S.M. Mitochondrial microheteroplasmy and a theory of aging and age-related disease. Rejuvenation Res. 8 (2005) 172-198
-
(2005)
Rejuvenation Res.
, vol.8
, pp. 172-198
-
-
Smigrodzki, R.M.1
Khan, S.M.2
-
25
-
-
34347353834
-
Mitochondria in cybrids containing mtDNA from persons with mitochondriopathies
-
Swerdlow R.H. Mitochondria in cybrids containing mtDNA from persons with mitochondriopathies. J. Neurosci. Res. 85 (2007) 3416-3428
-
(2007)
J. Neurosci. Res.
, vol.85
, pp. 3416-3428
-
-
Swerdlow, R.H.1
-
26
-
-
0034965086
-
Biochemical analysis of cybrids expressing mitochondrial DNA from Contursi kindred Parkinson's subjects
-
Swerdlow R.H., Parks J.K., Cassarino D.S., Binder D.R., Bennett Jr. J.P., Di Iorio G., Golbe L.I., and Parker Jr. W.D. Biochemical analysis of cybrids expressing mitochondrial DNA from Contursi kindred Parkinson's subjects. Exp. Neurol. 169 (2001) 479-485
-
(2001)
Exp. Neurol.
, vol.169
, pp. 479-485
-
-
Swerdlow, R.H.1
Parks, J.K.2
Cassarino, D.S.3
Binder, D.R.4
Bennett Jr., J.P.5
Di Iorio, G.6
Golbe, L.I.7
Parker Jr., W.D.8
-
27
-
-
0031792679
-
Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family
-
Swerdlow R.H., Parks J.K., Davis II J.N., Cassarino D.S., Trimmer P.A., Currie L.J., Dougherty J., Bridges W.S., Bennett Jr. J.P., Wooten G.F., and Parker W.D. Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family. Ann. Neurol. 44 (1998) 873-881
-
(1998)
Ann. Neurol.
, vol.44
, pp. 873-881
-
-
Swerdlow, R.H.1
Parks, J.K.2
Davis II, J.N.3
Cassarino, D.S.4
Trimmer, P.A.5
Currie, L.J.6
Dougherty, J.7
Bridges, W.S.8
Bennett Jr., J.P.9
Wooten, G.F.10
Parker, W.D.11
-
28
-
-
0029908226
-
Origin and functional consequences of the complex I defect in Parkinson's disease
-
Swerdlow R.H., Parks J.K., Miller S.W., Tuttle J.B., Trimmer P.A., Sheehan J.P., Bennett Jr. J.P., Davis R.E., and Parker Jr. W.D. Origin and functional consequences of the complex I defect in Parkinson's disease. Ann. Neurol. 40 (1996) 663-671
-
(1996)
Ann. Neurol.
, vol.40
, pp. 663-671
-
-
Swerdlow, R.H.1
Parks, J.K.2
Miller, S.W.3
Tuttle, J.B.4
Trimmer, P.A.5
Sheehan, J.P.6
Bennett Jr., J.P.7
Davis, R.E.8
Parker Jr., W.D.9
-
29
-
-
67649806929
-
The cybrid model of sporadic Parkinson's disease
-
Trimmer P.A., and Bennett Jr. J.P. The cybrid model of sporadic Parkinson's disease. Exp. Neurol. 218 (2009) 320-325
-
(2009)
Exp. Neurol.
, vol.218
, pp. 320-325
-
-
Trimmer, P.A.1
Bennett Jr., J.P.2
-
30
-
-
1042301278
-
Parkinson's disease transgenic mitochondrial cybrids generate Lewy inclusion bodies
-
Trimmer P.A., Borland M.K., Keeney P.M., Bennett Jr. J.P., and Parker Jr. W.D. Parkinson's disease transgenic mitochondrial cybrids generate Lewy inclusion bodies. J. Neurochem. 88 (2004) 800-812
-
(2004)
J. Neurochem.
, vol.88
, pp. 800-812
-
-
Trimmer, P.A.1
Borland, M.K.2
Keeney, P.M.3
Bennett Jr., J.P.4
Parker Jr., W.D.5
-
31
-
-
0034102780
-
Abnormal mitochondrial morphology in sporadic Parkinson's and Alzheimer's disease cybrid cell lines
-
Trimmer P.A., Swerdlow R.H., Parks J.K., Keeney P., Bennett Jr. J.P., Miller S.W., Davis R.E., and Parker Jr. W.D. Abnormal mitochondrial morphology in sporadic Parkinson's and Alzheimer's disease cybrid cell lines. Exp. Neurol. 162 (2000) 37-50
-
(2000)
Exp. Neurol.
, vol.162
, pp. 37-50
-
-
Trimmer, P.A.1
Swerdlow, R.H.2
Parks, J.K.3
Keeney, P.4
Bennett Jr., J.P.5
Miller, S.W.6
Davis, R.E.7
Parker Jr., W.D.8
-
32
-
-
0017691722
-
Control of mitochondrial respiration: a quantitative evaluation of the roles of cytochrome c and oxygen
-
Wilson D.F., Owen C.S., and Holian A. Control of mitochondrial respiration: a quantitative evaluation of the roles of cytochrome c and oxygen. Arch. Biochem. Biophys. 182 (1977) 749-762
-
(1977)
Arch. Biochem. Biophys.
, vol.182
, pp. 749-762
-
-
Wilson, D.F.1
Owen, C.S.2
Holian, A.3
|