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LHON's library [46 articles]

Recent papers added to LHON's library.
  • Selective killing of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.
    Journal of inherited metabolic disease, Vol. 15, No. 6. (1992), pp. 943-944.
    by R Petrova-Benedict, JR Buncic, DC Wallace, BH Robinson
    posted to galactose by LHON on 2008-07-20 05:46:50 as **
  • Frontotemporal dementia and mitochondrial DNA transitions.
    Neurobiology of disease, Vol. 15, No. 2. (March 2004), pp. 306-311.
    by M Grazina, F Silva, I Santana, B Santiago, C Mendes, M Simões, M Oliveira, L Cunha, C Oliveira
    posted to nd1 g3316a frontotemporal_dementia dementia alzheimers by LHON on 2008-06-29 08:47:07 as *****
  • Cognitive decline as a manifestation of mitochondrial disorders (mitochondrial dementia).
    Journal of the neurological sciences (20 June 2008)
    by Josef Finsterer
    posted to psychiatric dementia cognitive_decline by LHON on 2008-06-29 08:15:05 as *****
  • Mitochondrial function and toxicity: role of the B vitamin family on mitochondrial energy metabolism.
    Chemico-biological interactions, Vol. 163, No. 1-2. (27 October 2006), pp. 94-112.
    by F Depeint, WR Bruce, N Shangari, R Mehta, PJ O'Brien
    posted to vitamins thiamine riboflavin pantothenic_acid niacin co-factors b_vitamins biotin by LHON on 2008-06-23 10:05:30 as *****
  • Nutritional cofactor treatment in mitochondrial disorders.
    Journal of the American Dietetic Association, Vol. 103, No. 8. (August 2003), pp. 1029-1038.
    by B Marriage, MT Clandinin, DM Glerum
    posted to vitamins tocopherol supplements ribofavin niacin micronutrients creatine co-q10 ascorbic_acid alpha-lipoic_acid acetyl-l-carnitine by LHON on 2008-06-23 09:53:59 as *****
  • Chronically ischemic mouse skeletal muscle exhibits myopathy in association with mitochondrial dysfunction and oxidative damage.
    American journal of physiology. Regulatory, integrative and comparative physiology (14 May 2008)
    by Iraklis I I Pipinos, Stanley A A Swanson, Zhen Zhu, Aikaterini A A Nella, Dustin J J Weiss, Tanuja L L Gutti, Rodney D D McComb, B Timothy T Baxter, Thomas G G Lynch, George P P Casale
    posted to skeletal_muscle oxidative_damage myopathy mice ischemia by LHON on 2008-06-04 11:10:39 as *****
  • Habitual physical activity in daily life correlates positively with markers for mitochondrial capacity.
    Journal of applied physiology (Bethesda, Md. : 1985) (29 May 2008)
    by Marcel den Hoed, Matthijs K C K Hesselink, Gerrit P J P van Kranenburg, Klaas R R Westerterp
    posted to succinate_dehydrogenase sdh physical_activity mitochondrial_capacity had exercise cytochrome_c_oxidase cs cox citrate_synthase beta-hydroxyacyl-coa_dehydrogenase by LHON on 2008-06-04 10:57:40 as *****
  • Mitochondrial DNA 3644T-->C mutation associated with bipolar disorder.
    Genomics, Vol. 84, No. 6. (December 2004), pp. 1041-1050.
    by K Munakata, M Tanaka, K Mori, S Washizuka, M Yoneda, O Tajima, T Akiyama, S Nanko, H Kunugi, K Tadokoro, N Ozaki, T Inada, K Sakamoto, T Fukunaga, Y Iijima, N Iwata, M Tatsumi, K Yamada, T Yoshikawa, T Kato
    posted to t3644c nd1 brain bipolar by LHON on 2008-05-31 22:13:53 as *****
  • Chronic lamotrigine does not alter the turnover of arachidonic acid within brain phospholipids of the unanesthetized rat: implications for the treatment of bipolar disorder.
    Psychopharmacology, Vol. 193, No. 4. (September 2007), pp. 467-474.
    by HJ Lee, JS Rao, L Chang, SI Rapoport, RP Bazinet
    posted to valproic_acid valproate phospholipids manic_phase lithium lamotrigine lamictal depressive_phase carbamapazine brain bipolar arachidonic_acid by LHON on 2008-05-31 21:41:27 as *****
  • Effect of antipsychotics on succinate dehydrogenase and cytochrome oxidase activities in rat brain
    Naunyn-Schmiedeberg's Archives of Pharmacology, Vol. 376, No. 1-2. (October 2007), pp. 127-133.
    by Streck, Emilio, Rezin, Gislaine, Barbosa, Luciana, Assis, Lara, Grandi, Eliane, Quevedo, Joao
    posted to succinate_dehydrogenase sdh olanzapine haloperidol cytochrome_oxidase cox aripiprazole antipsychotics by LHON on 2008-05-31 21:36:27 as *****
  • Inhibition of mitochondrial complex I by haloperidol: the role of thiol oxidation.
    Neuropharmacology, Vol. 38, No. 4. (April 1999), pp. 567-577.
    by S Balijepalli, MR Boyd, V Ravindranath
    posted to thiol inhibition haloperidol complex_i ala by LHON on 2008-05-31 01:02:46 as *****
  • Differential effects of typical and atypical neuroleptics on mitochondrial function in vitro.
    Archives of pharmacal research, Vol. 26, No. 11. (November 2003), pp. 951-959.
    by JS Modica-Napolitano, CJ Lagace, WA Brennan, JR Aprille
    posted to thioridazinethorazine risperidone quetiapine olanzapine neuroleptics haloperidol haldol clozapine chlorpromazine atypical_antipsychotics by LHON on 2008-05-30 13:45:22 as *****
  • Neuronal mitochondrial amelioration by feeding acetyl-L-carnitine and lipoic acid to aged rats.
    Journal of cellular and molecular medicine (28 March 2008)
    by Gjumrakch Aliev, Jiankang Liu, Justin C C Shenk, Kathryn Fischbach, Gerardo J J Pacheco, Shu G G Chen, Mark E E Obrenovich, Walter F F Ward, Arlan G G Richardson, Mark A A Smith, Eldar Gasimov, George Perry, Bruce N N Ames
    posted to neurons lipoic carnitine brain alpha-lipoic_acid alcar aging acetyl-l-carnitine by LHON on 2008-05-18 17:29:41 as *****
  • The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
    Brain : a journal of neurology, Vol. 130, No. Pt 8. (August 2007), pp. 2037-2044.
    by K Gempel, H Topaloglu, B Talim, P Schneiderat, BG Schoser, VH Hans, B Pálmafy, G Kale, A Tokatli, C Quinzii, M Hirano, A Naini, S DiMauro, H Prokisch, H Lochmüller, R Horvath
    posted to riboflavin myopathy flavoprotein etfdh co-q10 autosomal by LHON on 2008-05-18 06:47:53 as *****
  • Reversible dissociation of flavin mononucleotide from the mammalian membrane-bound NADH: ubiquinone oxidoreductase (complex I).
    FEBS letters, Vol. 581, No. 30. (22 December 2007), pp. 5803-5806.
    by IS Gostimskaya, VG Grivennikova, G Cecchini, AD Vinogradov
    posted to ubiquinione riboflavin nadh flavin_mononucleotide b-2 by LHON on 2008-05-18 03:54:38 as *****
  • Reevaluating the relationship between EPR spectra and enzyme structure for the iron sulfur clusters in NADH:quinone oxidoreductase.
    Proceedings of the National Academy of Sciences of the United States of America, Vol. 104, No. 31. (31 July 2007), pp. 12720-12725.
    by G Yakovlev, T Reda, J Hirst
    posted to subunits spectroscopy nadh iron-sulfur epr_spectra electron-transfer e_coli bovine active_sites by LHON on 2008-05-12 17:27:13 as *****
  • Mitochondrial Complex I: structure, function, and implications in neurodegeneration.
    The Italian journal of biochemistry, Vol. 55, No. 3-4. (c 2006), pp. 232-253.
    by G Lenaz, A Baracca, R Fato, ML Genova, G Solaini
    posted to peroxidation parkinsons nadh lhon iron-sulphur electron_transfer by LHON on 2008-05-12 17:09:33 as *****
  • Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration.
    PLoS ONE, Vol. 3, No. 5. (2008)
    by JA Canter, LM Olson, K Spencer, N Schnetz-Boutaud, B Anderson, MA Hauser, S Schmidt, EA Postel, A Agarwal, MA Pericak-Vance, P Sternberg, JL Haines
    posted to nd2 lhon amd age-related_macular_degeneration a4917g by LHON on 2008-05-09 18:22:44 as **
  • Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.
    Brain : a journal of neurology, Vol. 129, No. Pt 5. (May 2006), pp. 1249-1259.
    by K Auré, G Fayet, JP Leroy, E Lacène, NB Romero, A Lombès
    posted to proliferation myopathy melas exercise apoptosis by LHON on 2008-05-06 16:42:02 as *****
  • Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy.
    Brain : a journal of neurology, Vol. 129, No. Pt 12. (December 2006), pp. 3402-3412.
    by TD Jeppesen, M Schwartz, DB Olsen, F Wibrand, T Krag, M Dunø, S Hauerslev, J Vissing
    posted to treatment training safety myopathy by LHON on 2008-05-06 16:38:38 as *****
  • Functional Diagnostics in Mitochondrial Diseases
    Bioscience Reports, Vol. 27, No. 1-3. (June 2007), pp. 53-67.
    by Siciliano, Gabriele, Volpi, Leda, Piazza, Selina, Ricci, Giulia, Mancuso, Michelangelo, Murri, Luigi
    posted to treatment myopathy exercise diagnostics by LHON on 2008-05-06 16:31:18 as *****
  • The effect of training on the expression of mitochondrial biogenesis- and apoptosis-related proteins in skeletal muscle of patients with mtDNA defects.
    American journal of physiology. Endocrinology and metabolism, Vol. 293, No. 3. (September 2007)
    by PJ Adhihetty, T Taivassalo, RG Haller, DR Walkinshaw, DA Hood
    posted to miopathy exercise_training by LHON on 2008-05-06 16:28:14 as *****
  • Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency.
    Neuropediatrics, Vol. 38, No. 4. (August 2007), pp. 184-187.
    by VT Ramaekers, J Weis, JM Sequeira, EV Quadros, N Blau
    posted to folate encephalomyopathy by LHON on 2008-04-26 17:11:56 as *****
  • Developmental regression and mitochondrial dysfunction in a child with autism.
    Journal of child neurology, Vol. 21, No. 2. (February 2006), pp. 170-172.
    by JS Poling, RE Frye, J Shoffner, AW Zimmerman
    posted to autism by LHON on 2008-04-14 09:23:11 as ***** along with 1 person lilith
  • Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.
    Biochimica et biophysica acta, Vol. 1659, No. 2-3. (6 December 2004), pp. 121-128.
    by DR Thorburn, C Sugiana, R Salemi, DM Kirby, L Worgan, A Ohtake, MT Ryan
    posted to diagnosis by LHON on 2008-04-07 18:00:20 as *****
  • Mutations of the mitochondrial ND1 gene as a cause of MELAS.
    Journal of medical genetics, Vol. 41, No. 10. (October 2004), pp. 784-789.
    by DM Kirby, R McFarland, A Ohtake, C Dunning, MT Ryan, C Wilson, D Ketteridge, DM Turnbull, DR Thorburn, RW Taylor
    posted to melas nd1 by LHON on 2008-04-07 17:58:14 as *****
  • Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.
    American journal of human genetics, Vol. 72, No. 6. (June 2003), pp. 1460-1469.
    by N Howell, RJ Oostra, PA Bolhuis, L Spruijt, LA Clarke, DA Mackey, G Preston, C Herrnstadt
    posted to 13051 14325 9804 dutch french-canadian haplogroup j lhon mrca t14484c by LHON on 2008-04-05 04:36:28 as ** along with 1 person Archaeogenetics
  • mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation.
    Biochemical and biophysical research communications, Vol. 364, No. 2. (14 December 2007), pp. 238-242.
    by Y Ji, X Jia, Q Zhang, YG Yao
    posted to a b c chinese d f1a g11778a haplogroup lhon m10a m7 m8a n9a r11 by LHON on 2008-04-05 04:31:54 as *****
  • Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy.
    J Neuroophthalmol, Vol. 26, No. 4. (December 2006), pp. 264-267.
    by P Tharaphan, WL Chuenkongkaew, K Luangtrakool, T Sanpachudayan, B Suktitipat, R Suphavilai, C Srisawat, T Sura, P Lertrit
    posted to f g11778a haplogroup southeast_asia by LHON on 2008-04-05 04:28:41 as ***** along with 1 person Archaeogenetics
  • Mitochondrial D-loop variation in leber hereditary neuropathy patients harboring primary G11778A, G3460A, T14484C mutations: J and W haplogroups as high-risk factors.
    Arch Med Res, Vol. 37, No. 8. (November 2006), pp. 1028-1033.
    by M Shafa Shariat Panahi, M Houshmand, AR Tabassi
    posted to g11778a g3460a haplogroups j t14484c w by LHON on 2008-04-05 04:26:09 as ***** along with 1 person Archaeogenetics
  • Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.
    Ophthalmic genetics, Vol. 29, No. 1. (March 2008), pp. 17-24.
    by SP Shankar, JH Fingert, V Carelli, ML Valentino, TM King, SP Daiger, SR Salomao, A Berezovsky, R Belfort, TA Braun, VC Sheffield, AA Sadun, EM Stone
    posted to g11778a lhon x-linked-modifier xq25-272 by LHON on 2008-04-05 04:23:51 as **
  • Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.
    J Neuroophthalmol, Vol. 22, No. 4. (December 2002), pp. 262-269.
    by N Howell, NR Miller, DA Mackey, A Arnold, C Herrnstadt, IM Williams, I Kubacka
    posted to double_mutations g11778a g14459a incomplete_penetrance infantile_encephalopathy lhon by LHON on 2008-03-13 11:01:07 as *****
  • Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations.
    Biochem Biophys Res Commun, Vol. 295, No. 2. (12 July 2002), pp. 342-347.
    by S Fauser, J Luberichs, D Besch, B Leo-Kottler
    posted to full_sequencing lhon nd1 nd5 nd6 rare_variants by LHON on 2008-03-13 10:49:57 as *****
  • LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation
    European Journal of Human Genetics, Vol. aop, No. current. (12 January 2005)
    by Emma L Blakely, Rajith d de Silva, Andrew King, Verena Schwarzer, Tim Harrower, Gervase Dawidek, Douglass M Turnbull, Robert W Taylor
    posted to lhon melas nd1 by LHON on 2008-03-13 10:38:20 as *****
  • A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family.
    Biochem Biophys Res Commun, Vol. 332, No. 4. (15 July 2005), pp. 1115-1121.
    by SI Zhadanov, VV Atamanov, NI Zhadanov, OV Oleinikov, LP Osipova, TG Schurr
    posted to g14279a lhon nd6 by LHON on 2008-03-13 10:18:40 as *****
  • The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.
    Ann Neurol, Vol. 56, No. 5. (November 2004), pp. 631-641.
    by ML Valentino, P Barboni, A Ghelli, L Bucchi, C Rengo, A Achilli, A Torroni, A Lugaresi, R Lodi, B Barbiroli, M Dotti, A Federico, A Baruzzi, V Carelli
    posted to hotspot lhon nd1 by LHON on 2008-03-13 10:09:27 as *****
  • The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
    Brain, Vol. 124, No. Pt 1. (January 2001), pp. 209-218.
    by PF Chinnery, DT Brown, RM Andrews, R Singh-Kler, P Riordan-Eva, J Lindley, DA Applegarth, DM Turnbull, N Howell
    posted to hotspot lhon nd6 by LHON on 2008-03-13 10:05:51 as *****
  • Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery.
    Graefes Arch Clin Exp Ophthalmol, Vol. 240, No. 9. (September 2002), pp. 758-764.
    by B Leo-Kottler, J Luberichs, D Besch, M Christ-Adler, S Fauser
    posted to lhon nd4 t11253c by LHON on 2008-03-02 21:04:55 as *****
  • Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy.
    FEBS J, Vol. 272, No. 5. (March 2005), pp. 1124-1135.
    by M Floreani, E Napoli, A Martinuzzi, G Pantano, V De Riva, R Trevisan, E Bisetto, L Valente, V Carelli, F Dabbeni-Sala
    posted to no-tag by LHON on 2008-03-02 21:03:14 as *****
  • Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.
    Am J Ophthalmol, Vol. 141, No. 4. (April 2006), pp. 676-682.
    by L Spruijt, DN Kolbach, RF de Coo, AS Plomp, NJ Bauer, HJ Smeets, CE de Die-Smulders
    posted to no-tag by LHON on 2008-03-02 21:00:26 as *****
  • Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids.
    Arch Neurol, Vol. 62, No. 5. (May 2005), pp. 730-736.
    by A Baracca, G Solaini, G Sgarbi, G Lenaz, A Baruzzi, AH Schapira, A Martinuzzi, V Carelli
    posted to bacterial bioenergetics cybrid g11778a g3640a lhon nd1 nd4 nd6 t14484c by LHON on 2008-03-02 20:58:12 as *****
  • Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration.
    Biochim Biophys Acta, Vol. 1658, No. 1-2. (23 July 2004), pp. 172-179.
    by V Carelli, M Rugolo, G Sgarbi, A Ghelli, C Zanna, A Baracca, G Lenaz, E Napoli, A Martinuzzi, G Solaini
    posted to bacterial bioenergetics cybrid galactose glucose lhon by LHON on 2008-03-02 20:51:48 as *****
  • A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
    Arch Neurol, Vol. 64, No. 6. (June 2007), pp. 890-893.
    by L Spruijt, HJ Smeets, A Hendrickx, MW Bettink-Remeijer, A Maat-Kievit, KC Schoonderwoerd, W Sluiter, IF de Coo, RQ Hintzen
    posted to g3697a lhon melas nd1 spastic_dystonia by LHON on 2008-03-02 20:49:01 as *****
  • Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
    J Med Genet, Vol. 44, No. 4. (April 2007)
    by MJ Blok, L Spruijt, IF de Coo, K Schoonderwoerd, A Hendrickx, HJ Smeets
    posted to a13511t g13513a leighs lhon melas nd5 by LHON on 2008-03-02 20:46:02 as *****
  • Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.
    Am J Med Genet A, Vol. 124, No. 4. (1 February 2004), pp. 377-382.
    by A Gropman, TJ Chen, CL Perng, D Krasnewich, E Chernoff, C Tifft, LJ Wong
    posted to g14459a homoplasmy incomplete_penetrance lhon nd6 by LHON on 2008-03-02 20:41:13 as *****
  • Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme.
    Biochem J, Vol. 409, No. 1. (1 January 2008), pp. 129-137.
    by J Pätsi, M Kervinen, M Finel, IE Hassinen
    posted to lhon nd6 by LHON on 2008-03-02 20:37:38 as *****
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