[HTML][HTML] Vesicle trafficking and vesicle fusion: mechanisms, biological functions, and their implications for potential disease therapy
L Cui, H Li, Y Xi, Q Hu, H Liu, J Fan, Y Xiang… - Molecular …, 2022 - Springer
Intracellular vesicle trafficking is the fundamental process to maintain the homeostasis of
membrane-enclosed organelles in eukaryotic cells. These organelles transport cargo from …
membrane-enclosed organelles in eukaryotic cells. These organelles transport cargo from …
[HTML][HTML] Synaptic genes and neurodevelopmental disorders: from molecular mechanisms to developmental strategies of behavioral testing
C Michetti, A Falace, F Benfenati, A Fassio - Neurobiology of Disease, 2022 - Elsevier
Synaptopathies are a class of neurodevelopmental disorders caused by modification in
genes coding for synaptic proteins. These proteins oversee the process of …
genes coding for synaptic proteins. These proteins oversee the process of …
Deconstructing Synaptotagmin-1's Distinct Roles in Synaptic Vesicle Priming and Neurotransmitter Release
B Bouazza-Arostegui, M Camacho… - Journal of …, 2022 - Soc Neuroscience
Synaptotagmin-1 (SYT1) is a synaptic vesicle resident protein that interacts via its C2
domain with anionic lipids from the plasma membrane in a calcium-dependent manner to …
domain with anionic lipids from the plasma membrane in a calcium-dependent manner to …
LncRNA HCP5 acts as a miR-128-3p sponge to promote the progression of multiple myeloma through activating Wnt/β‐catenin/cyclin D1 signaling via PLAGL2
Q Liu, R Ran, M Song, X Li, Z Wu, G Dai… - Cell Biology and …, 2022 - Springer
Background Although long non-coding RNA (lncRNA) HCP plays essential roles in human
cancers, its function and mechanism in multiple myeloma (MM) have not crystallized …
cancers, its function and mechanism in multiple myeloma (MM) have not crystallized …
[HTML][HTML] Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
Abstract Purpose Synaptotagmin-1 (SYT1) is a critical mediator of neurotransmitter release
in the central nervous system. Previously reported missense SYT1 variants in the C2B …
in the central nervous system. Previously reported missense SYT1 variants in the C2B …
Maternal DBP exposure promotes synaptic formation in offspring by activating astrocytes via the AKT/NF-κB/IL-6/JAK2/STAT3 signaling pathway
Y Xia, J Chen, T Ma, X Meng, X Han, D Li - Science of The Total …, 2022 - Elsevier
It has been demonstrated that activated astrocytes in the hypothalamus could disrupt GnRH
secretion in offspring after maternal di-n-butyl phthalate (DBP) exposure, indicating that the …
secretion in offspring after maternal di-n-butyl phthalate (DBP) exposure, indicating that the …
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program
T Cloney, L Gallacher, LS Pais, NB Tan… - Journal of medical …, 2022 - jmg.bmj.com
Background Clinical exome sequencing typically achieves diagnostic yields of 30%–57.5%
in individuals with monogenic rare diseases. Undiagnosed diseases programmes …
in individuals with monogenic rare diseases. Undiagnosed diseases programmes …
[HTML][HTML] Identification of candidate genes associated with clinical onset of Alzheimer's disease
W Liao, H Luo, Y Ruan, Y Mai, C Liu, J Chen… - Frontiers in …, 2022 - frontiersin.org
Background and objective Alzheimer's disease (AD) is the most common type of dementia,
with its pathology like beta-amyloid and phosphorylated tau beginning several years before …
with its pathology like beta-amyloid and phosphorylated tau beginning several years before …
[HTML][HTML] Similarity and diversity of presynaptic molecules at neuromuscular junctions and central synapses
K Takikawa, H Nishimune - Biomolecules, 2022 - mdpi.com
Synaptic transmission is essential for controlling motor functions and maintaining brain
functions such as walking, breathing, cognition, learning, and memory. Neurotransmitter …
functions such as walking, breathing, cognition, learning, and memory. Neurotransmitter …
[HTML][HTML] SYT1-associated neurodevelopmental disorder: a narrative review
E Riggs, Z Shakkour, CL Anderson, PR Carney - Children, 2022 - mdpi.com
Synaptic dysregulations often result in damaging effects on the central nervous system,
resulting in a wide range of brain and neurodevelopment disorders that are caused by …
resulting in a wide range of brain and neurodevelopment disorders that are caused by …