[HTML][HTML] Seizing the moment: Zebrafish epilepsy models
K Gawel, M Langlois, T Martins, W van der Ent… - Neuroscience & …, 2020 - Elsevier
Zebrafish are now widely accepted as a valuable animal model for a number of different
central nervous system (CNS) diseases. They are suitable both for elucidating the origin of …
central nervous system (CNS) diseases. They are suitable both for elucidating the origin of …
[HTML][HTML] Functional and biochemical consequences of disease variants in neurotransmitter transporters: a special emphasis on folding and trafficking deficits
Neurotransmitters, such as γ-aminobutyric acid, glutamate, acetyl choline, glycine and the
monoamines, facilitate the crosstalk within the central nervous system. The designated …
monoamines, facilitate the crosstalk within the central nervous system. The designated …
Stress response silencing by an E3 ligase mutated in neurodegeneration
Stress response pathways detect and alleviate adverse conditions to safeguard cell and
tissue homeostasis, yet their prolonged activation induces apoptosis and disrupts …
tissue homeostasis, yet their prolonged activation induces apoptosis and disrupts …
UBE2A and UBE2B are recruited by an atypical E3 ligase module in UBR4
L Barnsby-Greer, PD Mabbitt, MA Dery… - Nature Structural & …, 2024 - nature.com
UBR4 is a 574 kDa E3 ligase (E3) of the N-degron pathway with roles in neurodevelopment,
age-associated muscular atrophy and cancer. The catalytic module that carries out ubiquitin …
age-associated muscular atrophy and cancer. The catalytic module that carries out ubiquitin …
[HTML][HTML] Episodic ataxias: Primary and secondary etiologies, treatment, and classification approaches
A Hassan - Tremor and Other Hyperkinetic Movements, 2023 - ncbi.nlm.nih.gov
Background: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar
dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders …
dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders …
Clinical and genetic overview of paroxysmal movement disorders and episodic ataxias
G Garone, A Capuano, L Travaglini, F Graziola… - International Journal of …, 2020 - mdpi.com
Paroxysmal movement disorders (PMDs) are rare neurological diseases typically
manifesting with intermittent attacks of abnormal involuntary movements. Two main …
manifesting with intermittent attacks of abnormal involuntary movements. Two main …
Molecular insights into disease-associated glutamate transporter (EAAT1 / SLC1A3) variants using in silico and in vitro approaches
Glutamate is an essential excitatory neurotransmitter and an intermediate for energy
metabolism. Depending on the tumor site, cancer cells have increased or decreased …
metabolism. Depending on the tumor site, cancer cells have increased or decreased …
Episodic ataxias
JC Jen, J Wan - Handbook of clinical neurology, 2018 - Elsevier
Primary episodic ataxias (EAs) are a group of dominantly inherited disorders characterized
by transient recurrent incoordination and truncal instability, often triggered by physical …
by transient recurrent incoordination and truncal instability, often triggered by physical …
Cellular physiology and pathophysiology of EAAT anion channels
Excitatory amino acid transporters (EAATs) optimize the temporal resolution and energy
demand of mammalian excitatory synapses by quickly removing glutamate from the synaptic …
demand of mammalian excitatory synapses by quickly removing glutamate from the synaptic …
[HTML][HTML] Abnormal eye movements in parkinsonism and movement disorders
I Jung, JS Kim - Journal of movement disorders, 2019 - ncbi.nlm.nih.gov
Abnormal eye movements are commonly observed in movement disorders. Ocular motility
examination should include bedside evaluation and laboratory recording of ocular …
examination should include bedside evaluation and laboratory recording of ocular …