Functional integrity of mitochondrial genomes in human platelets and autopsied brain tissues from elderly patients with Alzheimer’s disease [PDF]
, 1999 Sayaka Ito +8 more
openalex +1 more source
Identifying prognostic targets in metastatic prostate cancer beyond AR
FEBS Open Bio, EarlyView.Genome‐wide functional screens combined with a large gene expression database and clinical outcomes can identify new therapeutic vulnerabilities in prostate cancer. Eight potentially druggable targets demonstrated strong dependency in cell lines, were associated with worse prognosis clinically, and showed evidence of protein expression in prostate ...
Emily Feng +13 more
wiley +1 more source
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
EBioMedicine, 2018 Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers.
Yi Shiau Ng +33 more
doaj
Earthing effects on mitochondrial function: ATP production and ROS generation
FEBS Open Bio, EarlyView.In contrast to sham and naive controls, grounded mitochondria not only exhibit significantly enhanced energy production but also demonstrate a remarkable reduction in membrane potential and oxidative stress. This suggests a profound improvement in mitochondrial health, presenting a promising avenue for therapeutic interventions.
Cecilia Giulivi, Richard Kotz
wiley +1 more source
74th ENMC International Workshop: Mitochondrial Diseases 19–20 November 1999, Naarden, The Netherlands [PDF]
, 2000 Joanna Poulton, Douglass M. Turnbull
openalex +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source
Mitochondrial genetics and disease
Trends in Biochemical Sciences, 2000 Mitochondrial respiratory chain diseases are a highly diverse group of disorders whose main unifying characteristic is the impairment of mitochondrial function. As befits an organelle containing gene products encoded by both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA), these diseases can be caused by inherited errors in either genome, but a ...
openaire +3 more sources
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
Multiple skeletal muscle mitochondrial DNA deletions in patients with unilateral peripheral arterial disease [PDF]
, 2000 Eric P. Brass +2 more
openalex +1 more source