Results 61 to 70 of about 159,415 (265)

Familial Spastic Paraparesis as a Mitochondrial Disorder

open access: yesPediatric Neurology Briefs, 1992
A girl presenting at 6 years with familial spastic paraparesis and having deficiencies of respiratory chain enzyme complex I, III and IV is reported from the Departments of Pediatrics and Neurology, Loyola University Medical Center, Maywood, IL.
J Gordon Millichap
doaj   +1 more source

Regulation of the lncRNA NEAT1 by p53‐ΔNp63 crosstalk modulates the DNA damage response and therapeutic efficacy in HNSCC

open access: yesMolecular Oncology, EarlyView.
In head and neck squamous cell carcinoma (HNSCC) p53 and p63 exert opposite roles on the transcription regulation of the lncRNA NEAT1. Under basal conditions, p53 levels are low and p63 represses NEAT1 expression. Upon genotoxic stress, p53 is rapidly induced, displacing p63 from the NEAT1 promoter leading to NEAT1 transcriptional activation and ...
Sara De Domenico   +5 more
wiley   +1 more source

Association of mitochondrial homeostasis and dynamic balance with malignant biological behaviors of gastrointestinal cancer

open access: yesJournal of Translational Medicine, 2023
Mitochondria determine the physiological status of most eukaryotes. Mitochondrial dynamics plays an important role in maintaining mitochondrial homeostasis, and the disorder in mitochondrial dynamics could affect cellular energy metabolism leading to ...
Ao-ran Liu   +7 more
doaj   +1 more source

RoundMi: A quantitative method to analyze mitochondrial morphology in mitotic cells

open access: yesFEBS Open Bio, EarlyView.
RoundMi is a workflow for rapid analysis of mitochondrial morphology in mitotic cells. By combining adaptive preprocessing with automated segmentation and quantification, it enables accurate measurements from single focal plane images, reducing acquisition time and computational demands while remaining compatible with high‐throughput fixed and live ...
Elmira Parvindokht Bararpour   +2 more
wiley   +1 more source

UiO‐66 metal–organic frameworks in biomedicine: From structural tunability to bioimaging, photodiagnostics, and photodynamic cancer therapy

open access: yesFEBS Open Bio, EarlyView.
UiO‐66(Zr) metal–organic frameworks are chemically stable, biocompatible, and highly tunable nanomaterials. Their modular structure enables controlled drug delivery, multimodal bioimaging, and light‐activated photodynamic therapy, supporting integrated diagnostic and therapeutic (theranostic) applications in cancer and biomedical research.
Veronika Huntošová   +2 more
wiley   +1 more source

Headache and Mitochondrial Disorders [PDF]

open access: yesHeadache: The Journal of Head and Face Pain, 2008
We report on 2 patients who have a mitochondrial myopathy, encephalopathy, lactic acidosis, and recurrent cerebral insults that resemble strokes (MELAS). These 2, and 9 other, reported patients share the following features: ragged red fibers evident on muscle biopsy, normal early development, short stature, seizures, and hemiparesis, hemianopia, or ...
openaire   +2 more sources

Treatment with KCL‐286, a first‐in‐class retinoic acid receptor‐β (RARβ) agonist, ameliorates neuronal DNA damage and inflammation in a mouse model of Alzheimer's disease

open access: yesFEBS Open Bio, EarlyView.
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill   +6 more
wiley   +1 more source

Dose‐dependent hepatotoxicity of hydrogen peroxide in HepG2 cells and its modulation by CYP450 induction

open access: yesFEBS Open Bio, EarlyView.
NMR metabolomics revealed concentration‐dependent metabolic perturbations in HepG2 cells exposed to H2O2. Rifampicin pretreatment enhanced metabolic competence, attenuated toxin‐induced alterations and produced metabolite profiles more consistent with human liver physiology, supporting the use of CYP450‐induced HepG2 models for improved in vitro ...
Maren Jinks   +4 more
wiley   +1 more source

Recurrent Miscarriages and Postpartum Heart Failure Can Be Phenotypic Manifestations of the m.3243A>G Variant

open access: yesClinical Case Reports
Female carriers of the MT‐TL1 variant m.3243A>G may manifest not only phenotypically with diabetes, renal insufficiency, hearing loss, and cardiomyopathy but also with recurrent miscarriages.
Sounira Mehri, Josef Finsterer
doaj   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

open access: yesFEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez   +6 more
wiley   +1 more source

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