Mitochondrial dysfunction: Related diseases, influencing factors, and detection
Interdisciplinary Medicine, EarlyView.Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li +9 more
wiley +1 more source
MR‐Guidance of Gene Therapy for Brain Diseases: Moving From Palliative Treatment to Cures
Journal of Magnetic Resonance Imaging, EarlyView.ABSTRACT Regulatory bodies in the U.S. and Europe recently approved a gene therapy for aromatic L‐amino acid decarboxylase (AADC) deficiency, a rare neurologic disorder where a genetic mutation prevents dopamine production in the brain. Affected children fail to develop normal motor and cognitive functions.
Dalton H. Bermudez +2 more
wiley +1 more source
Mass spectrometry imaging of N‐linked glycans: Fundamentals and recent advances
Mass Spectrometry Reviews, EarlyView.Abstract With implications in several medical conditions, N‐linked glycosylation is one of the most important posttranslation modifications present in all living organisms. Due to their nontemplate synthesis, glycan structures are extraordinarily complex and require multiple analytical techniques for complete structural elucidation.
Tana V. Palomino, David C. Muddiman
wiley +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dopaminergic neuron depletion in the substantia nigra (SN) and the pathological aggregation of α‐synuclein are the neuropathological hallmarks of Parkinson's disease (PD). Objectives This study aimed to investigate the association between the polygenic risk score for PD (PD‐PRS) and transcranial sonography (TCS)‐measured SN ...
Mart Kals +11 more
wiley +1 more source
On the potassium conductance increase activated by GABAB and dopamine D2 receptors in rat substantia nigra neurones. [PDF]
, 1988 M.G. Lacey +2 more
openalex +1 more source
The Gut‐Brain Axis in Parkinson disease: Emerging Concepts and Therapeutic Implications
Movement Disorders Clinical Practice, EarlyView.Abstract Background The gut‐brain axis, i.e. the bidirectional communication system between the gut and the brain, has become of central importance in Parkinson disease (PD) research over the past 20 years. Aims We aimed to describe the milestones of the gut‐brain axis research in PD and the development of theories proposing the involvement of the ...
Elisa Menozzi +2 more
wiley +1 more source
Comparison of the CNS effects induced by TRH and bicuculline after microinjection into medial septum, substantia nigra and inferior colliculus: Absence of support for a GABA antagonist action for TRH [PDF]
, 1984 George R. Breese +3 more
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Movement Disorders Clinical Practice, EarlyView.Abstract Background Dysphagia significantly impacts prognosis in individuals with multiple system atrophy (MSA). While video‐based assessments are practical, their limited availability highlights the need for a simple tool such as the Dysphagia Severity Scale (DSS) in clinical practice.
Ryunosuke Nagao +8 more
wiley +1 more source
On-line visualization of dendritic release of acetylcholinesterase from mammalian substantia nigra neurons. [PDF]
, 1987 Rodolfó R. Llinás, Susan A. Greenfield
openalex +1 more source
Myoclonic Dystonia: A Common Phenomenology in the Pleomorphic Movements of Angelman Syndrome
Movement Disorders Clinical Practice, EarlyView.Abstract Background Angelman syndrome (AS) is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, a sociable demeanor, and abnormal movements. People with AS often exhibit multiple types of abnormal movements, including nonepileptic myoclonus, tremor, and dystonia, which hamper attempts to identify phenomenology
Robert P. Carson +8 more
wiley +1 more source