Results 31 to 40 of about 376,481 (188)

Mitochondrial Encephalomyopathy Associated with Pyruvate Dehydrogenase Complex Deficiency: Eight Clinical Cases

Вопросы современной педиатрии, 2021
Background. Defects in pyruvate dehydrogenase complex (PDC), involved in the glycolysis products integration into the cells' energy metabolism, are one of the reasons of mitochondrial pathology development.
Ekaterina A. Nikolaeva, Svetlana Ya. Volgina, Chulpan D. Khaliullina, Sergey V. Bochenkov, Maria A. Danceva   +4 more
doaj   +1 more source

Deceleration of fusion–fission cycles improves mitochondrial quality control during aging [PDF]

, 2012
Mitochondrial dynamics and mitophagy play a key role in ensuring mitochondrial quality control. Impairment thereof was proposed to be causative to neurodegenerative diseases, diabetes, and cancer.
Michael Meyer-Hermann, Michael Meyer-Hermann (124166), Andreas S. Reichert (124162), Reichert Andreas S., Heinz D. Osiewacz (120841), Figge, Marc Thilo, Reichert, Andreas S, Marc Thilo Figge, Heinz D Osiewacz, Reichert, Andreas, Meyer-Hermann Michael, Meyer-Hermann, Michael (Prof. Dr.), Osiewacz Heinz D., Meyer-Hermann, Michael, Osiewacz, Heinz D., Andreas S Reichert, Figge Marc Thilo, Marc Thilo Figge (155511), Osiewacz, Heinz D   +18 more
core   +2 more sources

Mitochondrial neurogastrointestinal encephalomyopathy: imaging and clinical findings in three patients [PDF]

, 2013
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy.
Erkan Yıldırım, Gokturk, Savas, Zuhal Çalışkan, ÇOBAN ÇİFÇİ, GÖKÇEN, Horasanli, Bahriye, Gökçen Çoban, Caliskan, Zuhal, Hatice Aysun Akça, Bahriye Horasanlı, Akca, Hatice Aysun, Savaş Göktürk, Yildirim, Erkan   +11 more
core   +1 more source

Thiamine-Responsive Congenital Lactic Acidosis Without MC

Pediatric Neurology Briefs, 2005
Six infants with thiamine-responsive congenital lactic acidosis (CLA), normal pyruvate dehydrogenase complex activity, and no evidence of mitochondrial encephalomyopathy, are reported from Tottori University, Yonago; National Children’s Medical Center ...
J Gordon Millichap
doaj   +1 more source

Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant

Frontiers in Genetics, 2022
Isolated complex I deficiency represents the most common mitochondrial respiratory chain defect involved in mitochondrial disorders. Among these, the mitochondrial DNA (mtDNA) m.13513G>A pathogenic variant in the NADH dehydrogenase 5 subunit gene (MT ...
Valentina Barone, Chiara La Morgia, Leonardo Caporali, Claudio Fiorini, Michele Carbonelli, Laura Ludovica Gramegna, Laura Ludovica Gramegna, Fiorina Bartiromo, Fiorina Bartiromo, Caterina Tonon, Caterina Tonon, Luca Morandi, Luca Morandi, Rocco Liguori, Rocco Liguori, Aurelia Petrini, Rachele Brugnano, Rachele Del Sordo, Carla Covarelli, Manrico Morroni, Raffaele Lodi, Raffaele Lodi, Valerio Carelli, Valerio Carelli   +23 more
doaj   +1 more source

Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

Molecular Genetics and Metabolism Reports, 2015
Mitochondrial disease involving complex II is rare among respiratory chain deficiencies and its genetic cause remains often unknown. Two main clinical presentations are associated with this biochemical defect: mitochondrial encephalomyopathy and ...
Anna Ardissone, Federica Invernizzi, Alessia Nasca, Isabella Moroni, Laura Farina, Daniele Ghezzi   +5 more
doaj   +1 more source

Mapping gene associations in human mitochondria using clinical disease phenotypes [PDF]

, 2009
Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been recorded, while no standardized catalog exists of the associated clinical ...
Curt Scharfe, Allen, Edward A., Enns, Gregory M., Guan-Cheng Li, Henry Horng-Shing Lu, Lu, Henry Horng-Shing, Neuenburg, Jutta K., Ronald W. Davis, Jutta K Neuenburg, Tina M. Cowan, Cowan, Tina M., Thomas Klopstock, Jutta K. Neuenburg, Klopstock, Thomas, Tina M Cowan, Scharfe, Curt, Li, Guan-Cheng, Edward A Allen, Ronald W Davis, Edward A. Allen, Davis, Ronald W., Gregory M Enns, Gregory M. Enns   +22 more
core   +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

Non-epileptic myoclonus and mitochondrial encephalomyopathy

Arquivos de Neuro-Psiquiatria, 1989
Two brothers presented to us with a progressive myoclonic syndrome with slight cerebellar symptoms. Neurological examination disclosed moderate cerebellar signs and pale optic discs; asymmetric, asynchronous and arhythmic myoclonus, an arthresthesic ...
A. Cukiert, F. G. M. Naylor, H. B. Scapolan, M. M. Vilela, F. S. Aloe, J. O. Siffert, Ana M. Tsanaglis, Monica Haddad, Teresa C. Machado, Mary Carvalho-Alegro, J. A. Levy, L. Marques-Assis   +11 more
doaj   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source