Results 91 to 100 of about 1,493,018 (273)

SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1

open access: yesFEBS Open Bio, EarlyView.
Cells expressing SIRT4 (H161Y), a catalytically inactive mutant of the sirtuin SIRT4, fail to upregulate LC3B‐II and exhibit a reduced autophagic flux under stress conditions. Interestingly, SIRT4(H161Y) promotes phosphorylation of ULK1 at S638 and S758 that are associated with inhibition of autophagy initiation.
Isabell Lehmkuhl   +13 more
wiley   +1 more source

Human Pappilomavirus Genotype in Cervical Tissue of Patients with Cervical Intraepithelial Neoplasia (CIN) 1, CIN 2, and CIN 3 [PDF]

open access: yes, 2016
Objectives: to determine the genotype of HPV in patients with precancerous lesions of cervical tissue.Materials and Methods: An observational study with cross sectional study of patients paraffin block CIN1, CIN2, CIN3 was conducted in Dr Soetomo ...
Alia, R. (Rahmi)   +4 more
core   +1 more source

The role of lipid metabolism in neuronal senescence

open access: yesFEBS Open Bio, EarlyView.
Disrupted lipid metabolism, through alterations in lipid species or lipid droplet accumulation, can drive neuronal senescence. However, lipid dyshomeostasis can also occur alongside neuronal senescence, further amplifying tissue damage. Delineating how lipid‐induced senescence emerges in neurons and glial cells, and how it contributes to ageing and ...
Dikaia Tsagkari   +2 more
wiley   +1 more source

Systemic dysregulation of apolipoproteins in amyotrophic lateral sclerosis serum

open access: yesFEBS Open Bio, EarlyView.
Amyotrophic lateral sclerosis (ALS) is a fatal disease that damages motor neurons. This study found that people with ALS show significant changes in blood fats and the proteins that carry them. Several apolipoproteins were higher, lipid balances were altered, and normal protein–lipid relationships were disrupted.
Finula I. Isik   +6 more
wiley   +1 more source

Tracking Motor Progression and Device‐Aided Therapy Eligibility in Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterise the progression of motor symptoms and identify eligibility for device‐aided therapies in Parkinson's disease, using both the 5‐2‐1 criteria and a refined clinical definition, while examining differences across genetic subgroups.
David Ledingham   +7 more
wiley   +1 more source

Clinical utility of panel-based genetic sequencing for von Willebrand disease

open access: yesResearch and Practice in Thrombosis and Haemostasis
Background: von Willebrand disease (VWD) is the most prevalent inherited bleeding disorder with a wide spectrum of causative variants. Next-generation sequencing analyzes the entire VWF gene and provides concomitant assessment of other genes, allowing ...
Radha Ramanan   +12 more
doaj   +1 more source

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon   +12 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

Predictive genotype [PDF]

open access: yesCanadian Medical Association Journal, 2010
Shinya, Ito, Bruce C, Carleton
openaire   +2 more sources

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