Results 151 to 160 of about 934,182 (330)

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando   +13 more
wiley   +1 more source

The Roles of Mitochondria in Human Being’s Life and Aging

open access: yesBiomolecules
The universe began 13.8 billion years ago, and Earth was born 4.6 billion years ago. Early traces of life were found as soon as 4.1 billion years ago; then, ~200,000 years ago, the human being was born.
Hiroko P. Indo   +21 more
doaj   +1 more source

The role of DJ-1 in enhancing mitochondrial quality control [PDF]

open access: yes, 2013
Thesis (M.A.)--Boston UniversityDJ-1 is a cytosolic sensor for oxidative damage which acts on the Mitochondria. It works to curb the negative effects of high membrane potential in mitochondria, but the mechanism of action is still uncertain.
Lingiah, Krishna Anand
core   +1 more source

Multi‐Omics Integration for Advancing Glioma Precision Medicine

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas are among the most malignant and aggressive tumors of the central nervous system, characterized by the absence of early diagnostic markers, poor prognosis, and a lack of effective treatments. Advances in high‐throughput technologies have facilitated a refined molecular classification of gliomas, incorporating genetic features. However,
Maria Guarnaccia   +4 more
wiley   +1 more source

Complex Mitochondrial DNA

open access: yesCold Spring Harbor Symposia on Quantitative Biology, 1968
B, Hudson, D A, Clayton, J, Vinograd
openaire   +2 more sources

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

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