Unusual Presentation of PLA2G6‐Related Neurodegeneration with Retinal Vasculitis
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13364
Abstract: Phospholipase A2 Group VI (PLA2G6)-related neurodegeneration (PLAN) is a form of neurodegeneration with brain iron accumulation (NBIA), which displays genetic and phenotypic heterogeneity. It can present in the following 4 different forms depending on the… read more here.
Keywords: anti; eye; vasculitis; retinal vasculitis ... See more keywords
CHCHD2 and CHCHD10-related neurodegeneration: molecular pathogenesis and the path to precision therapy.
Sign Up to like & getrecommendations! Published in 2023 at "Biochemical Society transactions"
DOI: 10.1042/bst20221365
Abstract: In the last decade, dominant mutations in the mitochondrial protein CHCHD10 (p.R15L and p.S59L) and its paralog CHCHD2 (p.T61I) were shown to cause familial amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD), respectively, with phenotypes… read more here.
Keywords: precision therapy; chchd10; chchd10 related; related neurodegeneration ... See more keywords
Contribution of proteases to the hallmarks of aging and to age‐related neurodegeneration
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DOI: 10.1111/acel.13603
Abstract: Protein quality control ensures the degradation of damaged and misfolded proteins. Derangement of proteostasis is a primary cause of aging and age‐associated diseases. The ubiquitin–proteasome and autophagy‐lysosome play key roles in proteostasis but, in addition… read more here.
Keywords: age related; age; related neurodegeneration; aging age ... See more keywords
Exercise and mitochondrial remodeling to prevent age-related neurodegeneration
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Applied Physiology"
DOI: 10.1152/japplphysiol.00611.2022
Abstract: Healthy brain activity requires precise ion and energy management creating a strong reliance on mitochondrial function. Age-related neurodegeneration leads to a decline in mitochondrial function and increased oxidative stress, with associated declines in mitochondrial mass,… read more here.
Keywords: age related; mitochondrial remodeling; brain; related neurodegeneration ... See more keywords