-
1
-
-
71849083825
-
The inheritance of pathogenic mitochondrial DNA mutations
-
Cree LM, Samuels DC, Chinnery PF. The inheritance of pathogenic mitochondrial DNA mutations. Biochim Biophys Acta 2009: 1792: 1097-1102.
-
(2009)
Biochim Biophys Acta
, vol.1792
, pp. 1097-1102
-
-
Cree, L.M.1
Samuels, D.C.2
Chinnery, P.F.3
-
3
-
-
76349123010
-
Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade
-
Kerr DS. Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade. Mol Genet Metab 2010: 99: 246-255.
-
(2010)
Mol Genet Metab
, vol.99
, pp. 246-255
-
-
Kerr, D.S.1
-
4
-
-
62749102812
-
m.3243A>G mutation in mitochondrial DNA leads to decreased insulin sensitivity in skeletal muscle and to progressive beta-cell dysfunction
-
Lindroos MM, Majamaa K, Tura A et al. m.3243A>G mutation in mitochondrial DNA leads to decreased insulin sensitivity in skeletal muscle and to progressive beta-cell dysfunction. Diabetes 2009: 58: 543-549.
-
(2009)
Diabetes
, vol.58
, pp. 543-549
-
-
Lindroos, M.M.1
Majamaa, K.2
Tura, A.3
-
5
-
-
0029875834
-
Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation
-
Velho G, Byrne MM, Clement K et al. Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation. Diabetes 1996: 45: 478-487.
-
(1996)
Diabetes
, vol.45
, pp. 478-487
-
-
Velho, G.1
Byrne, M.M.2
Clement, K.3
-
6
-
-
84911454067
-
Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation
-
S1567-7249(14)00099-3.
-
El-Hattab AW, Emrick LT, Hsu JW et al. Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation. Mitochondrion 2014 S1567-7249(14)00099-3.
-
(2014)
Mitochondrion
-
-
El-Hattab, A.W.1
Emrick, L.T.2
Hsu, J.W.3
-
7
-
-
84895544715
-
Mitochondrial dysfunction and complications associated with diabetes
-
Blake R, Trounce IA. Mitochondrial dysfunction and complications associated with diabetes. Biochim Biophys Acta 2014: 1840: 1404-1412.
-
(2014)
Biochim Biophys Acta
, vol.1840
, pp. 1404-1412
-
-
Blake, R.1
Trounce, I.A.2
-
8
-
-
84904321037
-
Mitochondria, endothelial cell function, and vascular diseases
-
Tang X, Luo YX, Chen HZ, Liu DP. Mitochondria, endothelial cell function, and vascular diseases. Front Physiol 2014: 5: 175.
-
(2014)
Front Physiol
, vol.5
, pp. 175
-
-
Tang, X.1
Luo, Y.X.2
Chen, H.Z.3
Liu, D.P.4
-
9
-
-
84895555916
-
The role of mitochondria in the aetiology of insulin resistance and type 2 diabetes
-
Martin SD, McGee SL. The role of mitochondria in the aetiology of insulin resistance and type 2 diabetes. Biochim Biophys Acta 2014: 1840: 1303-1312.
-
(2014)
Biochim Biophys Acta
, vol.1840
, pp. 1303-1312
-
-
Martin, S.D.1
McGee, S.L.2
-
10
-
-
19244375534
-
A mitochondrial genotype associated with the development of autoimmune-related type 1 diabetes
-
Uchigata Y, Okada T, Gong JS, Yamada Y, Iwamoto Y, Tanaka M. A mitochondrial genotype associated with the development of autoimmune-related type 1 diabetes. Diabetes Care 2002: 25: 2106.
-
(2002)
Diabetes Care
, vol.25
, pp. 2106
-
-
Uchigata, Y.1
Okada, T.2
Gong, J.S.3
Yamada, Y.4
Iwamoto, Y.5
Tanaka, M.6
-
12
-
-
80054063187
-
Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria
-
Karicheva OZ, Kolesnikova OA, Schirtz T et al. Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria. Nucleic Acids Res 2011: 39: 8173-8186.
-
(2011)
Nucleic Acids Res
, vol.39
, pp. 8173-8186
-
-
Karicheva, O.Z.1
Kolesnikova, O.A.2
Schirtz, T.3
-
13
-
-
84896488744
-
The m.3243A > G mitochondrial DNA mutation and related phenotypes. A matter of gender?
-
Mancuso M, Orsucci D, Angelini C et al. The m.3243A > G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol 2014: 261: 504-510.
-
(2014)
J Neurol
, vol.261
, pp. 504-510
-
-
Mancuso, M.1
Orsucci, D.2
Angelini, C.3
-
14
-
-
77955288655
-
MELAS and L-arginine therapy: pathophysiology of stroke-like episodes
-
Koga Y, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T. MELAS and L-arginine therapy: pathophysiology of stroke-like episodes. Ann N Y Acad Sci 2010: 1201: 104-110.
-
(2010)
Ann N Y Acad Sci
, vol.1201
, pp. 104-110
-
-
Koga, Y.1
Povalko, N.2
Nishioka, J.3
Katayama, K.4
Kakimoto, N.5
Matsuishi, T.6
-
15
-
-
0034746790
-
Decrease of 3243 A→G mtDNA mutation from blood in MELAS syndrome: a longitudinal study
-
Rahman S, Poulton J, Marchington D, Suomalainen A. Decrease of 3243 A→G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am J Hum Genet 2001: 68: 238-240.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 238-240
-
-
Rahman, S.1
Poulton, J.2
Marchington, D.3
Suomalainen, A.4
-
16
-
-
5044234254
-
Mitochondrial DNA turnover occurs during preimplantation development and can be modulated by environmental factors
-
McConnell JM, Petrie L. Mitochondrial DNA turnover occurs during preimplantation development and can be modulated by environmental factors. Reprod Biomed Online 2004: 9: 418-424.
-
(2004)
Reprod Biomed Online
, vol.9
, pp. 418-424
-
-
McConnell, J.M.1
Petrie, L.2
-
17
-
-
62149101621
-
Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A > G mtDNA mutation
-
Whittaker RG, Blackwood JK, Alston CL et al. Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A > G mtDNA mutation. Neurology 2009: 72: 568-569.
-
(2009)
Neurology
, vol.72
, pp. 568-569
-
-
Whittaker, R.G.1
Blackwood, J.K.2
Alston, C.L.3
-
18
-
-
34548501271
-
Prevalence and progression of diabetes in mitochondrial disease
-
Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Prevalence and progression of diabetes in mitochondrial disease. Diabetologia 2007: 50: 2085-2089.
-
(2007)
Diabetologia
, vol.50
, pp. 2085-2089
-
-
Whittaker, R.G.1
Schaefer, A.M.2
McFarland, R.3
Taylor, R.W.4
Walker, M.5
Turnbull, D.M.6
-
19
-
-
68549130511
-
The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes
-
Laloi-Michelin M, Meas T, Ambonville C et al. The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. J Clin Endocrinol Metab 2009: 94: 3025-3030.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 3025-3030
-
-
Laloi-Michelin, M.1
Meas, T.2
Ambonville, C.3
-
20
-
-
79953211019
-
Mitochondrial DNA deletion syndromes
-
In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, eds. . Seattle, WA: University of Washington, Seattle
-
DiMauro S, Hirano M. Mitochondrial DNA deletion syndromes. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, eds. GeneReviews(R). Seattle, WA: University of Washington, Seattle, 1993.
-
(1993)
GeneReviews(R)
-
-
DiMauro, S.1
Hirano, M.2
-
21
-
-
84862794514
-
Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency
-
Williams TB, Daniels M, Puthenveetil G, Chang R, Wang RY, Abdenur JE. Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. Molecular genetics and metabolism 2012: 106: 104-107.
-
(2012)
Molecular genetics and metabolism
, vol.106
, pp. 104-107
-
-
Williams, T.B.1
Daniels, M.2
Puthenveetil, G.3
Chang, R.4
Wang, R.Y.5
Abdenur, J.E.6
-
22
-
-
34548461086
-
Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?
-
Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone? Diabetes Care 2007: 30: 2238-2239.
-
(2007)
Diabetes Care
, vol.30
, pp. 2238-2239
-
-
Whittaker, R.G.1
Schaefer, A.M.2
McFarland, R.3
Taylor, R.W.4
Walker, M.5
Turnbull, D.M.6
-
23
-
-
67349120136
-
Multisystem manifestations of mitochondrial disorders
-
Di Donato S. Multisystem manifestations of mitochondrial disorders. J Neurol 2009: 256: 693-710.
-
(2009)
J Neurol
, vol.256
, pp. 693-710
-
-
Di Donato, S.1
-
25
-
-
84876180436
-
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options
-
El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics 2013: 10: 186-198.
-
(2013)
Neurotherapeutics
, vol.10
, pp. 186-198
-
-
El-Hattab, A.W.1
Scaglia, F.2
-
26
-
-
84906839774
-
The diagnosis and management of monogenic diabetes in children and adolescents
-
Rubio-Cabezas OHA, Njølstad PR, Mlynarski W et al. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes 2014: 15 (Supplement 20): 47-64.
-
(2014)
Pediatric Diabetes
, vol.15
, pp. 47-64
-
-
Rubio-Cabezas, O.H.A.1
Njølstad, P.R.2
Mlynarski, W.3
-
27
-
-
84864709884
-
Wolfram syndrome 1 and Wolfram syndrome 2
-
Rigoli L, Di Bella C. Wolfram syndrome 1 and Wolfram syndrome 2. Curr Opin Pediatr 2012: 24: 512-517.
-
(2012)
Curr Opin Pediatr
, vol.24
, pp. 512-517
-
-
Rigoli, L.1
Di Bella, C.2
-
29
-
-
2642536829
-
Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD)
-
Guillausseau PJ, Dubois-Laforgue D, Massin P et al. Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). Diabetes Metab 2004: 30: 181-186.
-
(2004)
Diabetes Metab
, vol.30
, pp. 181-186
-
-
Guillausseau, P.J.1
Dubois-Laforgue, D.2
Massin, P.3
-
30
-
-
0030747209
-
In situ characterization of islets in diabetes with a mitochondrial DNA mutation at nucleotide position 3243
-
Kobayashi T, Nakanishi K, Nakase H et al. In situ characterization of islets in diabetes with a mitochondrial DNA mutation at nucleotide position 3243. Diabetes 1997: 46: 1567-1571.
-
(1997)
Diabetes
, vol.46
, pp. 1567-1571
-
-
Kobayashi, T.1
Nakanishi, K.2
Nakase, H.3
-
31
-
-
0027268052
-
Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-depend-ent diabetics
-
Oka Y, Katagiri H, Yazaki Y, Murase T, Kobayashi T. Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-depend-ent diabetics. Lancet 1993: 342: 527-528.
-
(1993)
Lancet
, vol.342
, pp. 527-528
-
-
Oka, Y.1
Katagiri, H.2
Yazaki, Y.3
Murase, T.4
Kobayashi, T.5
-
32
-
-
2342538901
-
Diabetes mellitus with mitochondrial gene mutations in Japan
-
Suzuki S. Diabetes mellitus with mitochondrial gene mutations in Japan. Ann N Y Acad Sci 2004: 1011: 185-192.
-
(2004)
Ann N Y Acad Sci
, vol.1011
, pp. 185-192
-
-
Suzuki, S.1
-
33
-
-
0035672475
-
Islet cell autoimmunity and mitochondrial DNA mutation in Korean subjects with typical and atypical Type I diabetes
-
Lee WJ, Lee HW, Palmer JP et al. Islet cell autoimmunity and mitochondrial DNA mutation in Korean subjects with typical and atypical Type I diabetes. Diabetologia 2001: 44: 2187-2191.
-
(2001)
Diabetologia
, vol.44
, pp. 2187-2191
-
-
Lee, W.J.1
Lee, H.W.2
Palmer, J.P.3
-
34
-
-
84940845680
-
Metformin induces lactate production in peripheral blood mononuclear cells and platelets through specific mitochondrial complex I inhibition
-
doi: 10.1111/apha.12311. [Epub ahead of print]
-
Piel S, Ehinger JK, Elmer E, Hansson MJ. Metformin induces lactate production in peripheral blood mononuclear cells and platelets through specific mitochondrial complex I inhibition. Acta Physiol (Oxf) 2014. doi: 10.1111/apha.12311. [Epub ahead of print]
-
(2014)
Acta Physiol (Oxf)
-
-
Piel, S.1
Ehinger, J.K.2
Elmer, E.3
Hansson, M.J.4
-
35
-
-
84873696261
-
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation
-
Malfatti E, Laforet P, Jardel C et al. High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. Neurology 2013: 80: 100-105.
-
(2013)
Neurology
, vol.80
, pp. 100-105
-
-
Malfatti, E.1
Laforet, P.2
Jardel, C.3
|