High-affinity transport of glutathione is part of a multicomponent system essential for mitochondrial function. [PDF]
Jerker Mårtensson +2 more
openalex +1 more source
The Diverse Neuromuscular Spectrum of VPS13A Disease
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
Coixol ameliorates dopaminergic neurodegeneration by inhibiting neuroinflammation and protecting mitochondrial function. [PDF]
Yang S +10 more
europepmc +1 more source
Human mitochondria and mitochondrial genome function as a single dynamic cellular unit. [PDF]
Jun-Ichi Hayashi +3 more
openalex +1 more source
ABSTRACT Background Poststroke fatigue (PSF) and frailty share substantial overlap in their manifestations, yet previous research has yielded conflicting results due to the use of heterogeneous frailty assessment tools. Objective To evaluate the independent impact of frailty on PSF using a unified measurement system (Tilburg Frailty Indicator, TFI ...
Chuan‐Bang Chen +6 more
wiley +1 more source
Phosphate Improves Mitochondrial Function and Reduces Pancreatitis in Hypertriglyceridemia. [PDF]
Mullappilly N +4 more
europepmc +1 more source
Mitochondrial function in brain tissue in primary degenerative dementia
Neil R. Sims +4 more
openalex +1 more source
Ultrastructural changes associated with reduced mitochondrial DNA and impaired mitochondrial function in the presence of 2'3'-dideoxycytidine [PDF]
Lionel D. Lewis +2 more
openalex +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source

