Results 41 to 50 of about 3,285 (240)

Proteolytic Processing of OPA1 Links Mitochondrial Dysfunction to Alterations in Mitochondrial Morphology [PDF]

, 2006
Many muscular and neurological disorders are associated with mitochondrial dysfunction and are often accompanied by changes in mitochondrial morphology.
Attardi, Giuseppe, Bauer, Matthis F., Chomyn, Anne, Duvezin-Caubet, Stéphane, Hansson, Anna, Hofmann, Sabine, Jagasia, Ravi, Larsson, Nils-Göran, Neupert, Walter, Reichert, Andrea S., Trifunovic, Aleksandra, Wagener, Johannes   +11 more
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Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency)

Вопросы современной педиатрии, 2016
Leukoencephalopathy with predominant lesion of the brain stem, spinal cord and high blood lactate in the MR spectroscopy is a hereditary disease characterized by slowly progressing cerebellar, pyramidal disorders, disorders involving the lesion of ...
Ye. P. Kolesnikova, L. M. Kuzenkova, K. V. Savostyanov, O. V. Globa, T. V. Podkletnova   +4 more
doaj   +1 more source

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency. [PDF]

, 2014
Mitochondrial diseases due to a reduced capacity for oxidative phosphorylation were first identified more than 20 years ago, and their incidence is now recognized to be quite significant.
Scheffler, Immo E
core   +1 more source

Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia

Frontiers in Neurology, 2020
Mitochondrial chronic progressive external ophthalmoplegia (CPEO) is a major manifestation of human mitochondrial encephalomyopathies. Previous studies have shown cognitive deficits in patients with mitochondrial diseases.
Guanyu Zhang, Guanyu Zhang, Yue Hou, Zhaoxia Wang, Zheng Ye   +4 more
doaj   +1 more source

Mitochondrial Morphology and Intracellular Calcium Homeostasis in Cytochrome Oxidase-Deficient Human Fibroblasts

Neurobiology of Disease, 1997
Mitochondrial encephalomyopathies arise from mutations in the mitochondrial or nuclear genome and result in defective energy metabolism. Investigation of cellular pathophysiology in these disorders has been limited to nonneuronal explant cultures such as
Shawn D. Handran, John L. Werth, Darryl C. DeVivo, Steven M. Rothman   +3 more
doaj   +1 more source

Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy

Frontiers in Pediatrics, 2021
Mitochondriopathies represent a wide spectrum of miscellaneous disorders with multisystem involvement, which are caused by various genetic changes. The establishment of the diagnosis of mitochondriopathy is often challenging.
Katarína Kušíková, René Günther Feichtinger, Bernhard Csillag, Ognian Kostadinov Kalev, Serge Weis, Hans-Christoph Duba, Johannes Adalbert Mayr, Denisa Weis   +7 more
doaj   +1 more source

Protein coding mitochondrial-targeted RNAs rescue mitochondrial disease in vivo

Neurobiology of Disease, 2018
Mitochondrial encephalomyopathies (MEs) result from mutations in mitochondrial genes critical to oxidative phosphorylation. Severe and untreatable ME results from mutations affecting each endogenous mitochondrial encoded gene, including all 13 ...
Desiree M. Markantone, Atif Towheed, Aaron T. Crain, Jessica M. Collins, Alicia M. Celotto, Michael J. Palladino   +5 more
doaj   +1 more source

Modes of metabolic compensation during mitochondrial disease using the Drosophila model of ATP6 dysfunction.

PLoS ONE, 2011
Numerous mitochondrial DNA mutations cause mitochondrial encephalomyopathy: a collection of related diseases for which there exists no effective treatment.
Alicia M Celotto, Wai Kan Chiu, Wayne Van Voorhies, Michael J Palladino   +3 more
doaj   +1 more source

A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment

Frontiers in Neurology, 2019
Mitochondrial complex III deficiency nuclear type 2 is an autosomal-recessive disorder caused by mutations in TTC19 gene. TTC19 is involved in the preservation of mitochondrial complex III, which is responsible for transfer of electrons from reduced ...
Parham Habibzadeh, Parham Habibzadeh, Soroor Inaloo, Mohammad Silawi, Hassan Dastsooz, Hassan Dastsooz, Mohammad Ali Farazi Fard, Forough Sadeghipour, Zahra Faghihi, Mohaddeseh Rezaeian, Majid Yavarian, Johann Böhm, Mohammad Ali Faghihi, Mohammad Ali Faghihi   +13 more
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Transmission of mitochondrial DNA following assisted reproduction and nuclear transfer [PDF]

, 2006
Review of the articleMitochondria are the organelles responsible for producing the majority of a cell's ATP and also play an essential role in gamete maturation and embryo development.
Alam, Almeida-Santos, Anderson, Ankel-Simons, Barritt, Bavister, Blok, Boulet, Brenner, Brison, Brown, Brown, Campbell, Chang, Chen, Chen, Chinnery, Chung, Cibelli, Cohen, Cortesini, Cui, Cummins, Cummins, Dailey, Danan, Davis, De Block, Dean, Dumollard, Dunbar, D’Aurelio, E.C. Spikings, Eichenlaub-Ritter, Eisen, El Shourbagy, Falkenberg, Fisher, Fisher, Fulka, Gahan, Giles, Graziewicz, Gyllensten, Hammer, Han, Hance, Hanna, Hauswirth, He, Hecht, Hiendleder, Hiendleder, Hiendleder, Holden, Houghton, Humpherys, Inoue, Irwin, J. Alderson, J.C.St. John, Jansen, Kaneda, Keefe, Kenyon, King, Kirches, Klopstock, Koehler, Kondo, Kondo, Kong, Kong, Kraytsberg, Kvist, Laflamme, Larsson, Larsson, Larsson, Larsson, Leese, Lertrit, Lestienne, Levy, Lin, Liu, Liu, Liu, Lloyd, Ludwig, Luetjens, Machaty, Magnusson, Mancuso, Marchington, Margineantu, May-Panloup, McConnell, McCreath, McKenzie, McKenzie, McKenzie, Meirelles, Meirelles, Meirelles, Meusel, Michaels, Monnat, Moyes, Munne, Munsie, Nagao, Naini, Nakamura, Naviaux, Nishi, Nishigaki, Nishimura, Normile, Ojala, Ono, Palermo, Pfeiffer, Piko, Piko, Ponzetto, Poulton, Reynier, Reynier, Rideout, Rubart, Ruiz-Pesini, Sathananthan, Sathananthan, Sato, Satoh, Sazer, Scarpulla, Schon, Schwartz, Seifer, Sherratt, Shitara, Shoubridge, Siciliano, Smith, Sokolova, Spelbrink, Spiropoulos, St. John, St. John, St. John, St. John, St. John, St. John, St. John, St. John, Steinborn, Steinborn, Steuerwald, Stojanovski, Stojkovic, Sturmey, Sun, Sun, Suomalainen, Sutovsky, Sutovsky, Takeda, Takeda, Takeda, Takeuchi, Takeuchi, Taylor, Tessa, Thompson, Tiranti, Trounce, Trounson, Tsaousis, Vajta, Van Blerkom, Van Blerkom, Van Blerkom, Van Goethem, Wakayama, Wallace, Wallace, Wernig, White, White, Wiesner, Wilding, Wilmut, Xu, Yakes, Yang, Yang, Zhang, Zhao, Zouros   +200 more
core   +2 more sources