Results 41 to 50 of about 160,746 (308)

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

Mitochondrial disorders

Biochimica et Biophysica Acta (BBA) - Bioenergetics, 1993
The rate of advance of our understanding of mitochondrial pathology continues to accelerate. Trends in genotype-phenotype correlations in mitochondrial DNA mutations continue to be developed; the latest of these is the association of exercise intolerance with cytochrome b mutations and onset in infancy of multisystem disorders associated with ...
openaire   +4 more sources

The N-terminal intrinsically disordered domain of mgm101p is localized to the mitochondrial nucleoid.

, 2013
The mitochondrial genome maintenance gene, MGM101, is essential for yeasts that depend on mitochondrial DNA replication. Previously, in Saccharomyces cerevisiae, it has been found that the carboxy-terminal two-thirds of Mgm101p has a functional core ...
George Desmond Clark-Walker (281878), George Desmond Clark-Walker, Dosztányi Zsuzsanna, Zsuzsanna Dosztányi (57464), Clark-Walker, George Desmond, Zsuzsanna Dosztányi, Clark-Walker George Desmond, David C. Hayward (198611), David C. Hayward, Hayward David C., Hayward, David C., Dosztányi, Zsuzsanna, David C Hayward   +12 more
core   +1 more source

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

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

The Mitochondrial Biomarkers FGF-21 and GDF-15 in Patients with Episodic and Chronic Migraine

Cells, 2021
Mitochondrial processes may play a role in the pathophysiology of migraine. Serum levels of two biomarkers, Fibroblast-growth-factor 21 (FGF-21) and Growth-differentiation-factor 15 (GDF-15), are typically elevated in patients with mitochondrial ...
Philipp Burow, Marc Haselier, Steffen Naegel, Leila Motlagh Scholle, Charly Gaul, Torsten Kraya   +5 more
doaj   +1 more source

Mitochondrial Disorder Aggravated by Metoprolol. [PDF]

Case Rep Pediatr, 2016
Beta-adrenergic blocking agents or beta-blockers are a class of medications used to treat cardiac arrhythmias and systemic hypertension. In therapeutic dosages, they have known adverse outcomes that can include muscular fatigue and cramping, dizziness ...
Samuels C, Koenig MK, Hernandez M, Yadav A, Mosquera RA.   +4 more
europepmc   +2 more sources

Infantile Mitochondrial Disorders

Bioscience Reports, 2007
Mitochondrial disorders encompass any medical specialty and affect patients at any age. Likewise, the spectrum of clinical and genetic signatures of these disorders is ample, making a precise diagnosis difficult. We will report some of the major clinical phenotypes observed in infancy, their underlining molecular features, and will propose an approach ...
Rosalba, Carrozzo, Fiorella, Piemonte, Alessandra, Tessa, Simona, Lucioli, Teresa, Rizza, Maria Chiara, Meschini, Fabiana, Fattori, Filippo M, Santorelli   +7 more
openaire   +2 more sources

Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion

Molecular Genetics & Genomic Medicine, 2023
Background Kearns‐Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction anomalies.
Kristina Grigalionienė, Birutė Burnytė, Danutė Balkelienė, Laima Ambrozaitytė, Algirdas Utkus   +4 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source