Results 111 to 120 of about 5,286 (150)

Conserved and divergent mitochondrial assemblies in kinetoplastid parasites. [PDF]

open access: yesMol Cell
Solayman M   +14 more
europepmc   +1 more source

Mitochondrial genetic variation as a novel predictor of graft-versus-host disease after stem-cell transplantation in myelodysplastic neoplasms. [PDF]

open access: yesJ Hematol Oncol
Arsang-Jang S   +14 more
europepmc   +1 more source

In the absence of mitochondrial fusion unequal segregation of mitochondria drives mtDNA loss. [PDF]

open access: yesEMBO Rep
Dengler L   +8 more
europepmc   +1 more source

Pathogenic variants in MT-ATP6: A UK-based Mitochondrial Disease Cohort Study

open access: yes, 2019
Ng, YS   +27 more
openaire   +1 more source

Hypocitrullinemia as an Early Diagnostic Biomarker for MT-ATP6 Mitochondrial Diseases

Journal of Molecular Neuroscience
MT-ATP6 mitochondrial diseases are a group of disorders inherited from the maternal lineage caused by pathogenic variants in the MT-ATP6 gene, which encodes the a subunit of mitochondrial complex V (ATP synthase) in the electron transport chain. In this study, statistical analysis of 69 mitochondrial disease patients with complete blood metabolic ...
Dongjuan Wang, Siqi Hong
exaly   +3 more sources

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations

Neurology, 2013
To report that homoplasmic deleterious mutations in the mitochondrial DNA MT-ATP6/8 genes may be responsible for acute episodes of limb weakness mimicking periodic paralysis due to channelopathies and dramatically responding to acetazolamide.Mitochondrial DNA sequencing and restriction PCR, oxidative phosphorylation functional assays, reactive oxygen ...
Karine, Auré   +16 more
openaire   +2 more sources

Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants

Endocrine, Metabolic & Immune Disorders - Drug Targets
Introduction:: Leigh syndrome (LS) is clinically and genetically heterogeneous and presents defective mitochondrial bioenergetics. Patients present neurological symptoms and imagiological features that may result in early death [1].
Sara, Martins   +7 more
openaire   +2 more sources

Polymorphisms in the MT-ATP6 and MT-CYB genes in in vitro fertilization failure

Mitochondrial DNA, 2013
The purpose of this study was to investigate whether fertilization failure after in vitro fertilization could be explained by polymorphisms in MT-ATP6 and MT-CYB genes. We performed a prospective comparative study of 111 fresh IVF cycles in Han Chinese between July 2011 and February 2013. Human sperm mitochondrial DNA (mtDNA) variants in the MT-CYB and
Gen-Hong, Mao   +5 more
openaire   +2 more sources

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