Results 91 to 100 of about 4,657 (257)

ホスホジエステラーゼ10Aの特異的阻害によるハンチントン病治療の可能性に関する研究 [PDF]

open access: yes, 2018
筑波大学University of Tsukuba博士(生物科学)Doctor of Philosophy in Biological Science2017【要旨 ...
194578, Harada, Akina, 原田, 晃名
core   +1 more source

Time-Restricted Feeding Improves Circadian Dysfunction as well as Motor Symptoms in the Q175 Mouse Model of Huntington's Disease. [PDF]

open access: yes, 2018
Huntington's disease (HD) patients suffer from a progressive neurodegeneration that results in cognitive, psychiatric, cardiovascular, and motor dysfunction.
Colwell, Christopher S   +5 more
core   +1 more source

Isolation and characterization of a dual-substrate phosphodiesterase gene family: PDE10A [PDF]

open access: yesProceedings of the National Academy of Sciences, 1999
We report here the cloning, expression, and characterization of a dual-substrate, cAMP and cGMP, cyclic nucleotide phosphodiesterase (PDE) from mouse. This PDE contains the consensus sequence for a PDE catalytic domain, but shares <50% sequence identity with the catalytic domains of all other known PDEs and, therefore, represents a new ...
Joseph A. Beavo   +2 more
openaire   +3 more sources

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

open access: yesMovement Disorders, EarlyView.
Abstract Background Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. While biallelic loss‐of‐function variants in PDE10A are known to cause hyperkinetic movement disorders, the ...
Tomer Poleg   +21 more
wiley   +1 more source

Acetaldehyde as a drug of abuse: Involvement of endocannabinoid- and dopamine neurotransmission [PDF]

open access: yes, 2014
Acetaldehyde (ACD), the first metabolite of ethanol, directly enhances dopamine neurotransmission (1) and has rewarding and motivational properties in paradigms tailored for studying addictive-like behaviours (2, 3).
BRANCATO, Anna, CANNIZZARO, Carla
core   +1 more source

Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia

open access: yesMovement Disorders, EarlyView.
Abstract Background Biallelic loss‐of‐function variants in PI4K2A have been associated with a neurodevelopmental disorder characterized by seizures and movement disorders, including orofacial dyskinesia. However, only 4 cases have been reported. Orolingual dyskinesia—defined as involuntary movements of the mouth and tongue—is observed in various ...
Reza Maroofian   +9 more
wiley   +1 more source

Maternal Nutritional Status Governs Fetal Development by Modulating Imprinting Gene GAB1‐Mediated Trophoblast Differentiation in the Placenta

open access: yesCell Proliferation, EarlyView.
Maternal nutrient restriction disrupts placental homeostasis via GAB1 dysregulation—involving both transcriptional downregulation and autophagy‐dependent protein degradation. These molecular alterations inhibit MAPK signalling‐mediated trophoblast fusion, leading to structural and functional deficits in the maternal–fetal exchange interface.
Mingming Fan   +9 more
wiley   +1 more source

Identification of novel off targets of baricitinib and tofacitinib by machine learning with a focus on thrombosis and viral infection [PDF]

open access: yes, 2022
As there are no clear on-target mechanisms that explain the increased risk for thrombosis and viral infection or reactivation associated with JAK inhibitors, the observed elevated risk may be a result of an off-target effect.
Burden, Andrea M.   +4 more
core   +1 more source

A Robust Gene Expression Prognostic Signature for Overall Survival in High-Grade Serous Ovarian Cancer. [PDF]

open access: yes, 2019
The objective of this research was to develop a robust gene expression-based prognostic signature and scoring system for predicting overall survival (OS) of patients with high-grade serous ovarian cancer (HGSOC).
Hang, Bo   +8 more
core  

Computational modelling of cardiac fibroblast signalling reveals a key role for Ca2+ in driving atrial fibrillation‐associated fibrosis

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend A pre‐existing fibroblast signalling model was enhanced by integrating atrial‐specific components and reactions linked to atrial fibrosis and atrial fibrillation (AF). The analysis highlights the central role of Ca2⁺ signalling in driving profibrotic responses to AF‐relevant stimuli, angiotensin‐II and transforming growth factor ...
Najme Khorasani   +5 more
wiley   +1 more source

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