Results 21 to 30 of about 160,746 (308)

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series

Frontiers in Neurology, 2023
BackgroundMitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits ...
Montaha Almudhry, Montaha Almudhry, Arushi Gahlot Saini, Mohammed A. Al-Omari, Mohammed A. Al-Omari, Yashu Sharma, Maryam Nabavi Nouri, Maryam Nabavi Nouri, Maryam Nabavi Nouri, C. Anthony Rupar, C. Anthony Rupar, C. Anthony Rupar, Chitra Prasad, Chitra Prasad, Chitra Prasad, Andrea C. Yu, Savita Verma Attri, Asuri Narayan Prasad, Asuri Narayan Prasad, Asuri Narayan Prasad   +19 more
doaj   +1 more source

Colonic Oxidative and Mitochondrial Function in Parkinson’s Disease and Idiopathic REM Sleep Behavior Disorder

Parkinson's Disease, 2017
Objective. To determine potential mitochondrial and oxidative alterations in colon biopsies from idiopathic REM sleep behavior disorder (iRBD) and Parkinson’s disease (PD) subjects. Methods.
C. Morén, Í. González-Casacuberta, J. Navarro-Otano, D. Juárez-Flores, D. Vilas, G. Garrabou, J. C. Milisenda, C. Pont-Sunyer, M. Catalán-García, M. Guitart-Mampel, E. Tobías, F. Cardellach, F. Valldeoriola, A. Iranzo, E. Tolosa   +14 more
doaj   +1 more source

Mitochondrial Disorders

Medicine, 1998
Mitochondrial respiration, the most efficient metabolic pathway devoted to energy production, is at the crosspoint of 2 quite different genetic systems, the nuclear genome and the mitochondrial genome (mitochondrial DNA, mtDNA). The latter encodes a few essential components of the mitochondrial respiratory chain and has unique molecular and genetic ...
M, Zeviani, V, Tiranti, C, Piantadosi
openaire   +2 more sources

Malingering and factitious disorder (Münchausen-syndrome) can be mitochondrial

Indian Journal of Psychological Medicine, 2016
Malingering and factitious disorder (Münchausen-syndrome) has not been reported as a manifestation of a mitochondrial-disorder (MID). Here, we report a 46 years-old female with a MID due to a combined complex I-IV defect, manifesting in the cerebrum ...
Josef Finsterer, Lässer Stefan
doaj   +1 more source

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency

JIMD Reports, 2023
Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto‐acid dehydrogenases: pyruvate dehydrogenase, alpha‐ketoglutarate ...
Parith Wongkittichote, Sanmati R. Cuddapah, Stephen R. Master, Dorothy K. Grange, Dennis Dietzen, Stephen M. Roper, Rebecca D. Ganetzky   +6 more
doaj   +1 more source

ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy

Journal of Biochemical and Clinical Genetics, 2018
Introduction: Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process in the mitochondria. It is required to produce various ISC-containing proteins which are present in the nucleus, mitochondria, and cytosol.
Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai   +3 more
doaj   +1 more source

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission [PDF]

, 2015
Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 mutation, c.1836C4A (p.Cys612Ter), using ...
Jan-Willem Taanman, Shamima Rahman, Laura D. Osellame, Gilmour, Kimberley, Glenn Anderson, Jacques, Thomas S, Sophie Hambleton, Cale, Catherine, Osellame, Laura, Plagnol, Vincent, Chalasani, A, Annapurna Chalasani, Gilmour, KC, Hambleton, Sophie, Wedatilake, Yehani, Gilmour, Kimberley C, Duchen, Michael R, Osellame, LD, Taanman, Jan-Willem, Jacques, S, Vincent Plagnol, Plagnol, V, Rahman, S, Yehani Wedatilake, Michael R. Duchen, Shahni, Rojeen, Qasim, Waseem, Thomas S. Jacques, Catherine M. Cale, Duchen, Michael, Cale, Catherine M, Waseem Qasim, Anderson, Glenn, Wadatilake, Y, Cale, CM, Rahman, Shamima, Osellame, Laura D, Taanman, JW, Chan, E, Jacques, Thomas, Anderson, G, Rojeen Shahni, Chalasani, Annapurna, Kimberly C. Gilmour, Qasim, W, Emma Chan, Hambleton, S, Duchen, MR, Shahni, R, Chan, Emma   +49 more
core   +1 more source

QCR7 affects the virulence of Candida albicans and the uptake of multiple carbon sources present in different host niches

Frontiers in Cellular and Infection Microbiology, 2023
BackgroundCandida albicans is a commensal yeast that may cause life-threatening infections. Studies have shown that the cytochrome b-c1 complex subunit 7 gene (QCR7) of C.
Lingbing Zeng, Lingbing Zeng, Yongcheng Huang, Yongcheng Huang, Junjun Tan, Jun Peng, Niya Hu, Qiong Liu, YanLi Cao, Yuping Zhang, Junzhu Chen, Xiaotian Huang, Xiaotian Huang, Xiaotian Huang, Xiaotian Huang   +14 more
doaj   +1 more source

Glucocorticoids for mitochondrial disorders [PDF]

Singapore Medical Journal, 2015
Dear Sir, Although there is no causal treatment of mitochondrial disorders (MIDs) yet available,(1) treatment strategies to enhance respiratory chain (RC) functions, eliminate noxious compounds, shift the heteroplasmy rate, alter mitochondrial dynamics, transfer cytoplasm, or treat genes are increasingly applied.(1) One of the pharmacological ...
Josef, Finsterer, Marlies, Frank
openaire   +2 more sources

Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA [PDF]

, 2014
The manifestation of mitochondrial DNA (mtDNA) diseases depends on the frequency of heteroplasmy (the presence of several alleles in an individual), yet its transmission across generations cannot be readily predicted owing to a lack of data on the size ...
Chiaromonte, Francesca, T. S. Korneliussen, D. Blankenberg, Blankenberg, Daniel, Korneliussen, Thorfinn Sand, I. M. Paul, Paul, IM, Holland, Mitchell M, Su, Marcia Shu-Wei, B. Rebolledo-Jaramillo, Su, MS-W, B. Dickins, A. Nekrutenko, McElhoe, Jennifer A., R. Nielsen, N. Stoler, Nielsen, Rasmus, Nekrutenko, A, Makova, Kateryna D., Stoler, Nicholas, McElhoe, Jennifer A, Korneliussen, Thorfinn S., Chiaromonte, F, Holland, MM, M. S.-W. Su, Nekrutenko, Anton, Nielsen, R, Makova, KD, J. A. McElhoe, Rebolledo-Jaramillo, Boris, Rebolledo-Jaramillo, B, Korneliussen, Thorfinn S, Makova, Kateryna D, M. M. Holland, Holland, Mitchell M., Stoler, N, Blankenberg, D, F. Chiaromonte, Paul, Ian M., Paul, Ian M, K. D. Makova, Korneliussen, TS, McElhoe, JA, Dickins, Benjamin, Dickins, B   +44 more
core   +1 more source