Results 31 to 40 of about 371,748 (188)

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

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

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

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

Neurodegenerative stress related mitochondrial proteostasis [PDF]

, 2015
1.1 Background: Mitochondria are the main site of energy production in most cells. Furthermore, they are involved in a multitude of other essential cellular processes, such as regulating the cellular calcium pool, lipid metabolism and programmed cell ...
Fang, Lei
core   +1 more source

Effectiveness of creatine monohydrate in mitochondrial encephalomyopathies

, 2003
The mitochondrial encephalomyopathies are chronic progressive disorders affecting predominantly the neuromuscular system. Symptoms are induced by insufficient energy supply resulting from a deficiency of oxidative phosphorylation. We studied one male and
Hobbiebrunken, Elke, Wilichowski, E., Hanefeld, Folker, Komura, K.   +3 more
core   +1 more source

Ubiquitin-proteasome dependent mitochondrial protein quality control [PDF]

, 2014
Dysfunctional mitochondria cause many neurodegenerative disorders and with aging in general, mechanisms of mitochondrial quality control are essential for cellular function.
Benischke, Anne-Sophie
core   +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
doaj   +1 more source

Impaired Hearing in Mitochondrial Disorders [PDF]

, 2015
International audienceTo the EditorComment on : Audiological evaluation in Chinese patients with mitochondrial encephalomyopathies.
Josef Finsterer, Sinda Zarrouk-Mahjoub, Finsterer, Josef, Zarrouk-Mahjoub, Sinda   +3 more
core   +1 more source

Mitochondrial heat shock protein 70, a molecular chaperone for proteins encoded by mitochondrial DNA [PDF]

, 1994
Mitochondrial heat shock protein 70 (mt-Hsp70) has been shown to play an important role in facilitating import into, as well as folding and assembly of nuclear-encoded proteins in the mitochondrial matrix.
Herrmann, Johannes M., Stuart, Rosemary A., Neupert, Walter, Craig, Elisabeth A.   +3 more
core   +2 more sources