Results 71 to 80 of about 9,815,793 (361)

Multisystem Mitochondrial Disease Associated With a Mare m.10000G>A Mitochondrial tRNAGly (MT-TG) Variant

open access: yesFrontiers in Neurology, 2022
BackgroundMitochondrial diseases are clinically heterogeneous, can occur at any age, and can manifest with a wide range of clinical symptoms. They can involve any organ or tissue, characteristically involve multiple systems, typically affecting organs ...
Haiyan Yang   +4 more
doaj   +1 more source

The genetics and pathology of mitochondrial disease

open access: yesJournal of Pathology, 2016
Mitochondria are double‐membrane‐bound organelles that are present in all nucleated eukaryotic cells and are responsible for the production of cellular energy in the form of ATP.
C. Alston   +4 more
semanticscholar   +1 more source

Decoding the dual role of autophagy in cancer through transcriptional and epigenetic regulation

open access: yesFEBS Letters, EarlyView.
Transcriptional and epigenetic regulation controls autophagy, which exerts context‐dependent effects on cancer: Autophagy suppresses tumorigenesis by maintaining cellular homeostasis or promotes tumor progression by supporting survival under stress. In this “In a Nutshell” article, we explore the intricate mechanisms of the dual function of autophagy ...
Young Suk Yu, Ik Soo Kim, Sung Hee Baek
wiley   +1 more source

Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease

open access: yesFrontiers in Pediatrics, 2021
Objective: Mitochondrial disease is a multisystem disorder resulting from mitochondrial dysfunction. Although musculoskeletal system is vulnerable to mitochondrial dysfunction, little information is available on orthopedic issues such as hip displacement
Sungmin Kim   +4 more
doaj   +1 more source

Neuroimaging of mitochondrial disease [PDF]

open access: yesMitochondrion, 2008
Mitochondrial disease represents a heterogeneous group of genetic disorders that require a variety of diagnostic tests for proper determination. Neuroimaging may play a significant role in diagnosis. The various modalities of nuclear magnetic resonance imaging (MRI) allow for multiple independent detection procedures that can give important anatomical ...
Seth D. Friedman   +2 more
openaire   +3 more sources

Autophagy in cancer and protein conformational disorders

open access: yesFEBS Letters, EarlyView.
Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley   +1 more source

Proteomics of old world camelid (Camelus dromedarius): Better understanding the interplay between homeostasis and desert environment

open access: yesJournal of Advanced Research, 2014
Life is the interplay between structural–functional integrity of biological systems and the influence of the external environment. To understand this interplay, it is useful to examine an animal model that competes with harsh environment.
Mohamad Warda   +6 more
doaj   +1 more source

Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient

open access: yesClinical Case Reports, 2023
Key Clinical Message In 1‐year‐old girl presenting with neurodegenerative mitochondrial disease (Leigh syndrome), mutation analysis was performed by whole exome sequencing.
Forough Shabannejadian   +2 more
doaj   +1 more source

Recent Advances in Mitochondrial Disease.

open access: yesAnnual review of genomics and human genetics (Print), 2017
Mitochondrial disease is a challenging area of genetics because two distinct genomes can contribute to disease pathogenesis. It is also challenging clinically because of the myriad of different symptoms and, until recently, a lack of a genetic diagnosis ...
L. Craven   +3 more
semanticscholar   +1 more source

P‐glycoprotein modulates the fluidity gradient of the plasma membrane of multidrug resistant CHO cells

open access: yesFEBS Letters, EarlyView.
To explore the impact of the overexpression of the multidrug‐transporter P‐glycoprotein (ABCB1) on membrane fluidity, we compared the transversal gradient of mobility and microviscosity in plasma membranes of drug‐sensitive Chinese hamster ovary cells (AuxB1) and their multidrug‐resistant derivatives (B30) using the fluorescent n‐(9‐anthroyloxy) fatty ...
Roger Busche   +2 more
wiley   +1 more source

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