ArticleHuman genetics2006
Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.
Article in Human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 40 citations in OpenAlex.
- c-Jun N-Terminal Kinase Inhibitors as Potential Leads for New Therapeutics for Alzheimer's Diseases.International journal of molecular sciences · 2020Review
- JNK3 as Therapeutic Target and Biomarker in Neurodegenerative and Neurodevelopmental Brain Diseases.Cells · 2020Review
- Review
- Motor neuron loss in SMA is not associated with somal stress-activated JNK/c-Jun signaling.Human molecular genetics · 2019Article
- JIP1-Mediated JNK Activation Negatively Regulates Synaptic Plasticity and Spatial Memory.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- SRR intronic variation inhibits expression of its neighbouring SMG6 gene and protects against temporal lobe epilepsy.Journal of cellular and molecular medicine · 2018Article
- Article
- JNK Inhibition Inhibits Lateral Line Neuromast Hair Cell Development.Frontiers in cellular neuroscience · 2016Article
- A Perspective on the Role of microRNA-128 Regulation in Mental and Behavioral Disorders.Frontiers in cellular neuroscience · 2015Article
- Nuclear and cytosolic JNK signalling in neurons.Nature reviews. Neuroscience · 2014Review
- Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.Genes, brain, and behavior · 2014Article
- Roles of Rac1 and Rac3 GTPases during the development of cortical and hippocampal GABAergic interneurons.Frontiers in cellular neuroscience · 2014Review
- JNK1 controls dendritic field size in L2/3 and L5 of the motor cortex, constrains soma size, and influences fine motor coordination.Frontiers in cellular neuroscience · 2014Article
- Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.European journal of human genetics : EJHG · 2013Article
- Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.Human genetics · 2013Article
- Balanced translocations in mental retardation.Human genetics · 2009Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have investigated the breakpoints in a male child with pharmacoresistant epileptic encephalopathy and a de novo balanced translocation t(Y;4)(q11.2;q21). By fluorescence in situ hybridisation, we have identified genomic clones from both chromosome 4 and chromosome Y that span the breakpoints. Precise mapping of the chromosome 4 breakpoint indicated that the c-Jun N-terminal kinase 3 (JNK3) gene is disrupted in the patient. This gene is predominantly expressed in the central nervous system, and it plays an established role in both neuronal differentiation and apoptosis. Expression studies in the patient lymphoblastoid cell line show that the truncated JNK3 protein is expressed, i.e. the disrupted transcript is not immediately subject to nonsense-mediated mRNA decay, as is often the case for truncated mRNAs or those harbouring premature termination codons. Over-expression studies with the mutant protein in various cell lines, including neural cells, indicate that both its solubility and cellular localisation differ from that of the wild-type JNK3. It is plausible, therefore, that the presence of the truncated JNK3 disrupts normal JNK3 signal transduction in neuronal cells. JNK3 is one of the downstream effectors of the GTPase-regulated MAP kinase cascade, several members of which have been implicated in cognitive function. In addition, two known JNK3-interacting proteins, beta-arrestin 2 and JIP3, play established roles in neurite outgrowth and neurological development. These interactions are likely affected by a truncated JNK3 protein, and thereby provide an explanation for the link between alterations in MAP kinase signal transduction and brain disorders.
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