Results 51 to 60 of about 1,161,477 (260)
BMC Medical Genetics, 2011 Background Mutations in PEX1 are the most common primary cause of Zellweger syndrome. In addition to exonic mutations, deletions and splice site mutations two 5' polymorphisms at c.-137 and c.-53 with a potential influence on PEX1 protein levels have ...
Thoms Sven +5 more
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Scientific Reports, 2023 Parkinson’s disease (PD) is a neurodegenerative disorder characterized by the loss of dopaminergic neurons in the substantia nigra. The pathological hallmark of PD is the appearance of intraneuronal cytoplasmic α-synuclein (α-Syn) aggregation, called ...
Ayaka Fujimaki +10 more
doaj +1 more source
Peroxisome biogenesis and human peroxisome-deficiency disorders
Proceedings of the Japan Academy, Series B, 2016 Peroxisome is a single-membrane-bounded ubiquitous organelle containing a hundred different enzymes that catalyze various metabolic pathways such as β-oxidation of very long-chain fatty acids and synthesis of plasmalogens. To investigate peroxisome biogenesis and human peroxisome biogenesis disorders (PBDs) including Zellweger syndrome, more than a ...
openaire +3 more sources
A study of mitochondrial biogenesis in the rodent nervous system [PDF]
, 2015 This thesis investigates the process of mitochondrial biogenesis in the rodent CNS in the context of neuroinflammatory and neurodegenerative disease. There is mounting evidence of mitochondrial damage in neuroinflammation but very little is known about ...
Desai, R
core
Advanced Science, EarlyView.D4F‐functionalized ceria nanozyme–CasRx nanoparticles preferentially target renal macrophages through SR‐B1‐mediated uptake in ischemia–reperfusion injury. Ceria scavenges excessive ROS, while CasRx silences STING signaling, shifting macrophages toward a less inflammatory, pro‐resolving state and increasing the proportion of regulatory T cells.
Weibo Chen +11 more
wiley +1 more source
“MicroRNA Expression Profiling in human Subcutaneous Adipose Tissue” [PDF]
, 2008 MicroRNA are believed to be generally involved in more quantitative regulation of mammalian trait: therefore, mammalian conditions that have a strong genetic component and involve quantitative differences between the physiological and pathological ...
Castanò, Ilenia
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Molecular Genetics and Metabolism Reports, 2020 Zellweger spectrum disorders (ZSD) are rare, debilitating genetic diseases of peroxisome biogenesis that affect multiple organ systems and present with broad clinical heterogeneity. Although many case studies have characterized the multitude of signs and
Mousumi Bose +10 more
doaj +1 more source
Animal Models and Experimental Medicine, EarlyView.Schematic diagram of the core pathways of the liver‐brain axis in regulating AD. The liver regulates cerebral Aβ deposition, tau phosphorylation, and neuroinflammation through pathways such as metabolic detoxification (urea cycle, ketone body metabolism, glutathione antioxidant system), molecular secretion (APOE, CRP, FGF21, IGF‐1), and Aβ clearance ...
Ning Zhang, Wei Chen, Meng Wang
wiley +1 more source
Frontiers in Neurology, 2021 Hearing loss (HL) is the most common sensory deficit in humans and is frequently accompanied by peripheral vestibular loss (PVL). While often overlooked, PVL is an important sensory dysfunction that may impair development of motor milestones in children ...
Alicia Wang +12 more
doaj +1 more source
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder
, 2004 OBJECTIVE: To determine the enzymatic defect in a patient with ataxia, dysarthric speech, dry skin, hypotonia, and absent reflexes. The patient was previously diagnosed with a presumed deficiency of trihydroxycholestanoyl-CoA oxidase.
Gootjes, J. +4 more
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