Results 331 to 340 of about 10,435,022 (365)
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group. [PDF]
Eur J NeurolMancuso M +24 more
europepmc +1 more source
Annexin A13 Protects Against Acute Kidney Injury by Inactivating TGF‐β/Smad3 Signaling
Advanced Science, EarlyView.ANXA13 is negatively regulated by Smad3 and exerts its protective role in AKI by inactivating TGF‐β/Smad3 signaling and Smad3‐p21 cell cycle arrest pathway through binding to TβRI, inhibiting the interaction between TβRI and TβRII, thereby suppressing TβRI phosporylation.
Jiaxiao Li +12 more
wiley +1 more source
Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases
Jiali Lü +7 more
openalex +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Genetic basis of mitochondrial diseases
FEBS Letters, 2021Mitochondrial disorders are monogenic disorders characterized by a defect in oxidative phosphorylation and caused by pathogenic variants in one of over 340 different genes.
Mirjana Gusic, H. Prokisch
semanticscholar +1 more source
Neurologic Clinics, 2002
Since the first reports of disorders associated with mitochondrial DNA (mtDNA) defects more than a decade ago, the small mtDNA circle has been a Pandora's box of pathogenic mutations associated with human diseases. The "morbidity map" of mtDNA has gone from one point mutation and a few deletions in 1988 to more than 110 point mutations as of September,
Tuan H, Vu +2 more
openaire +5 more sources
Since the first reports of disorders associated with mitochondrial DNA (mtDNA) defects more than a decade ago, the small mtDNA circle has been a Pandora's box of pathogenic mutations associated with human diseases. The "morbidity map" of mtDNA has gone from one point mutation and a few deletions in 1988 to more than 110 point mutations as of September,
Tuan H, Vu +2 more
openaire +5 more sources
2018
Mitochondrial disorders represent a major challenge in medicine. Most of the mitochondrial proteins are encoded by the nuclear DNA (nDNA), whereas a very small fraction is encoded by the mitochondrial DNA (mtDNA). Mutations in mtDNA or mitochondria-related nDNA genes can result in mitochondrial dysfunction.
Maria J, Molnar, Gabor G, Kovacs
+6 more sources
Mitochondrial disorders represent a major challenge in medicine. Most of the mitochondrial proteins are encoded by the nuclear DNA (nDNA), whereas a very small fraction is encoded by the mitochondrial DNA (mtDNA). Mutations in mtDNA or mitochondria-related nDNA genes can result in mitochondrial dysfunction.
Maria J, Molnar, Gabor G, Kovacs
+6 more sources
Current Treatment Options in Neurology, 2001
Mitochondrial diseases are disorders of energy metabolism that include defects of pyruvate metabolism, Krebs cycle, respiratory chain (RC), and fatty acid oxidation (FAO). Treatment of pyruvate metabolism, Krebs cycle, and RC disorders is, in general, disappointing.
Roser, Pons, Darryl C., De Vivo
openaire +2 more sources
Mitochondrial diseases are disorders of energy metabolism that include defects of pyruvate metabolism, Krebs cycle, respiratory chain (RC), and fatty acid oxidation (FAO). Treatment of pyruvate metabolism, Krebs cycle, and RC disorders is, in general, disappointing.
Roser, Pons, Darryl C., De Vivo
openaire +2 more sources
Neurologic Clinics, 1989
Mitochondrial diseases, and particularly mitochondrial myopathies or encephalomyopathies, have drawn increasing attention in the past decade. Initially defined by morphologic changes in muscle ("ragged red fibers" and ultrastructural abnormalities of mitochondria), mitochondrial encephalomyopathies can now be classified according to biochemical defects
M, Zeviani +3 more
openaire +3 more sources
Mitochondrial diseases, and particularly mitochondrial myopathies or encephalomyopathies, have drawn increasing attention in the past decade. Initially defined by morphologic changes in muscle ("ragged red fibers" and ultrastructural abnormalities of mitochondria), mitochondrial encephalomyopathies can now be classified according to biochemical defects
M, Zeviani +3 more
openaire +3 more sources
The Lancet, 2006
Defects of mitochondrial metabolism cause a wide range of human diseases that include examples from all medical subspecialties. This review updates the topic of mitochondrial diseases by reviewing the most important recent advances in this area. The factors influencing inheritance, maintenance and replication of mtDNA are reviewed and the genotype ...
openaire +4 more sources
Defects of mitochondrial metabolism cause a wide range of human diseases that include examples from all medical subspecialties. This review updates the topic of mitochondrial diseases by reviewing the most important recent advances in this area. The factors influencing inheritance, maintenance and replication of mtDNA are reviewed and the genotype ...
openaire +4 more sources