Results 21 to 30 of about 159,415 (265)

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

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

Treatment of Mitochondrial Disorders [PDF]

Current Treatment Options in Neurology, 2014
While numerous treatments for mitochondrial disorders have been suggested, relatively few have undergone controlled clinical trials. Treatment of these disorders is challenging, as only symptomatic therapy is available. In this review we will focus on newer drugs and treatment trials in mitochondrial diseases, with a special focus on medications to ...
Sreenivas, Avula, Sumit, Parikh, Scott, Demarest, Jonathan, Kurz, Andrea, Gropman   +4 more
openaire   +2 more sources

Mitochondrial disorders and the eye [PDF]

Eye and Brain, 2011
The clinical significance of disturbed mitochondrial function in the eye has emerged since mitochondrial DNA (mtDNA) mutation was described in Leber's hereditary optic neuropathy. The spectrum of mitochondrial dysfunction has become apparent through increased understanding of the contribution of nuclear and somatic mtDNA mutations to mitochondrial ...
Nicole J, Van Bergen, Rahul, Chakrabarti, Evelyn C, O'Neill, Jonathan G, Crowston, Ian A, Trounce   +4 more
openaire   +5 more sources

Analyzing the Potential Biological Determinants of Autism Spectrum Disorder: From Neuroinflammation to the Kynurenine Pathway

Brain Sciences, 2020
Autism Spectrum Disorder (ASD) etiopathogenesis is still unclear and no effective preventive and treatment measures have been identified. Research has focused on the potential role of neuroinflammation and the Kynurenine pathway; here we review the ...
Rosa Savino, Marco Carotenuto, Anna Nunzia Polito, Sofia Di Noia, Marzia Albenzio, Alessia Scarinci, Antonio Ambrosi, Francesco Sessa, Nicola Tartaglia, Giovanni Messina   +9 more
doaj   +1 more source

Metabolic effects of bezafibrate in mitochondrial disease

EMBO Molecular Medicine, 2020
Mitochondrial disorders affect 1/5,000 and have no cure. Inducing mitochondrial biogenesis with bezafibrate improves mitochondrial function in animal models, but there are no comparable human studies. We performed an open‐label observational experimental
Hannah Steele, Aurora Gomez‐Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery   +16 more
doaj   +1 more source

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder

JIMD Reports, 2022
Biallelic pathogenic variants in NDUFS8, a nuclear gene encoding a subunit of mitochondrial complex I, result in a mitochondrial disorder characterized by varying clinical presentations and severity. Here, we expand the neuroimaging and clinical spectrum
Milena M. Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G. Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H. Rodan, David R. Thorburn, John Christodoulou, Siddharth Srivastava   +10 more
doaj   +1 more source

Disorders of mitochondrial function [PDF]

Current Opinion in Pediatrics, 2008
Mitochondrial diseases are a major category of childhood illness that produce a wide variety of symptoms and multisystemic disorders. This review highlights recent clinically important developments in diagnostic evaluation and treatment of mitochondrial diseases.Major advances have been made in understanding the genetic bases of mitochondrial diseases.
Debray, François-Guillaume, Lambert, M., Mitchell, G. A.   +2 more
openaire   +3 more sources

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

JIMD Reports, 2020
Pyruvate dehydrogenase complex deficiencies (PDCDs) and other mitochondrial disorders (MtDs) can (a) result in congenital lactic acidosis with elevations of blood alanine (Ala) and proline (Pro), (b) lead to decreased ATP production, and (c) result in ...
Jirair K. Bedoyan, Rosemary Hage, Ha Kyung Shin, Sharon Linard, Edwin Ferren, Nicole Ducich, Kirkland Wilson, April Lehman, Lori‐Anne Schillaci, Kandamurugu Manickam, Mari Mori, Dennis Bartholomew, Suzanne DeBrosse, Bruce Cohen, Sumit Parikh, Douglas Kerr   +15 more
doaj   +1 more source