The role of the dysregulated JNK signaling pathway in the pathogenesis of human diseases and its potential therapeutic strategies: a comprehensive review
H Yan, L He, D Lv, J Yang, Z Yuan - Biomolecules, 2024 - mdpi.com
JNK is named after c-Jun N-terminal kinase, as it is responsible for phosphorylating c-Jun.
As a member of the mitogen-activated protein kinase (MAPK) family, JNK is also known as …
As a member of the mitogen-activated protein kinase (MAPK) family, JNK is also known as …
Cytoskeleton and associated proteins: pleiotropic JNK substrates and regulators
B Benoit, A Baillet, C Poüs - International journal of molecular sciences, 2021 - mdpi.com
This review extensively reports data from the literature concerning the complex relationships
between the stress-induced c-Jun N-terminal kinases (JNKs) and the four main cytoskeleton …
between the stress-induced c-Jun N-terminal kinases (JNKs) and the four main cytoskeleton …
Spatial proteomics reveals secretory pathway disturbances caused by neuropathy-associated TECPR2
K Nalbach, M Schifferer, D Bhattacharya… - Nature …, 2023 - nature.com
Hereditary sensory and autonomic neuropathy 9 (HSAN9) is a rare fatal neurological
disease caused by mis-and nonsense mutations in the gene encoding for Tectonin β …
disease caused by mis-and nonsense mutations in the gene encoding for Tectonin β …
JNK signaling and its impact on neural cell maturation and differentiation
RD Castro-Torres, J Olloquequi, A Parcerisas, J Ureña… - Life Sciences, 2024 - Elsevier
Abstract C-Jun-N-terminal-kinases (JNKs), members of the mitogen-activated-protein-kinase
family, are significantly linked with neurological and neurodegenerative pathologies and …
family, are significantly linked with neurological and neurodegenerative pathologies and …
WDR62-deficiency causes autism-like behaviors independent of microcephaly in mice
D Xu, Y Zhi, X Liu, L Guan, J Yu, D Zhang, W Zhang… - Neuroscience …, 2023 - Springer
Brain size abnormality is correlated with an increased frequency of autism spectrum disorder
(ASD) in offspring. Genetic analysis indicates that heterozygous mutations of the WD repeat …
(ASD) in offspring. Genetic analysis indicates that heterozygous mutations of the WD repeat …
[HTML][HTML] WDR64, a testis-specific protein, is involved in the manchette and flagellum formation by interacting with ODF1
Y Zhang, X Xing, L Huang, Y Su, G Liu, X Zhang… - Heliyon, 2024 - cell.com
The WD40 repeat (WDR) domain is present in a wide range of proteins, providing sites for
protein‒protein interactions. Recent studies have shown that WDR proteins play …
protein‒protein interactions. Recent studies have shown that WDR proteins play …
Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript
H Chen, Y Zheng, H Wu, N Cai, G Xu, Y Lin… - Frontiers in …, 2024 - frontiersin.org
Background Autosomal recessive primary microcephaly (MCPH) is a rare
neurodevelopmental disorder characterized primarily by congenital microcephaly and …
neurodevelopmental disorder characterized primarily by congenital microcephaly and …
[HTML][HTML] Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort
Background: Intellectual disability (ID) is a genetically heterogeneous condition, and so far,
1679 human genes have been identified for this phenotype. Countries with a high rate of …
1679 human genes have been identified for this phenotype. Countries with a high rate of …
Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13. 32-q13. 33 Deletion and Short Review of the Literature
ES Shelby, M Morris, L Pădure, A Mirea, R Cocoș… - Genes, 2022 - mdpi.com
19q13 microdeletion syndrome is a very rare genetic disease characterized by pre-and
postnatal growth retardation, intellectual disability, expressive language impairment …
postnatal growth retardation, intellectual disability, expressive language impairment …
[PDF][PDF] WDR62 deficiency results in synaptic dysfunction and ASD-like behaviors in mice, which can be ameliorated by RA repletion
D Xu, Y Zhi, X Liu, L Guan, J Yu, D Zhang, W Zhang… - 2022 - scholar.archive.org
Background: Brain size abnormality is correlated with increased frequency of autism
spectrum disorder (ASD) in offspring. Genetic analysis indicates that many heterozygous …
spectrum disorder (ASD) in offspring. Genetic analysis indicates that many heterozygous …