A possible role of dystrophin in neuronal excitability: A review of the current literature

Hendriksen, R.; Hoogland, Govert; Schipper, Sandra; Hendriksen, Jos G.M.; Vles, Johan S.H.; Aalbers, Marlien W.

doi:10.1016/j.neubiorev.2015.01.023

Cited by 49 publications

(56 citation statements)

References 111 publications

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“…Proteins exclusively present in primary tumor exosomes were centrally involved in processes related to neuronal development. Among these proteins, dystrophin (DMD), which has different isoforms expressed in muscle and in brain, plays a role in synapse structure and function . TNFAIP3‐interacting protein (TNIP1) is a corepressor of agonist‐bound retinoic acid receptors (RARs) and a regulator of nuclear factor κB (NF‐kB) pathway .…”

Section: Resultsmentioning

confidence: 99%

Proteomic Analysis of Neuroblastoma‐Derived Exosomes: New Insights into a Metastatic Signature

et al. 2017

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Neuroblastoma (NB) is the most common extracranial pediatric solid tumor. Around 70% of patients with metastatic disease at diagnosis present bone-marrow infiltration, which is considered a marker of poor outcome; however, the mechanism underlying this specific tropism has to be elucidated. Tumor-derived exosomes may support metastatic progression in several tumors by interacting with the microenvironment, and may serve as tumor biomarkers. The main objective of this study is to identify an exosomal signature associated with NB metastatic bone-marrow dissemination. Therefore, the proteomic cargo of exosomes isolated from NB cell lines derived from primary tumor and bone-marrow metastasis is characterized. The comparison among exosomal proteins show 15 proteins exclusively present in primary tumor-derived exosomes, mainly involved in neuronal development, and 6 proteins in metastasis-derived exosomes related to cancer progression. Significant proteins obtain with statistical analysis performed between the two groups, reveal that primary tumor exosomes contain a higher level of proteins involved in extra-cellular matrix (ECM) assembly and adhesion, as well as in neuronal development. Exosomes isolated from bone-marrow metastasis exhibit proteins involved in ameboidal cell migration and mitochondrial activity. This work suggests that proteomic profiling of NB-derived exosomes reflects the tumor stage and may be considered as potential tumor biomarker.

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Section: Resultsmentioning

confidence: 99%

Proteomic Analysis of Neuroblastoma‐Derived Exosomes: New Insights into a Metastatic Signature

et al. 2017

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“…Symptoms of Duchenne muscular dystrophy also include cognitive impairment and behavioral symptoms including an ASD phenotype in approximately 15% of cases [210][211][212][213] . In 1990 Lou Kunkel and colleagues demonstrated that dystrophin was present in postsynaptic densities of neurons in the cerebral cortex and cerebellum 214 .…”

Section: A Seventh Common Upstream Regulatory Pathway Dmd (Dystrophimentioning

confidence: 99%

FMRP binding to a ranked subset of long genes is revealed by coupled CLIP and TRAP in specific neuronal cell types

Driesche

Sawicka

Zhang

et al. 2019

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Highlights 1. We have created a mouse model in which endogenous FMRP can be conditionally tagged.2. Using tag-specific CLIP we describe ranked and specific sets of in vivo FMRP mRNA targets in two types of neurons.3. This ranking was used to reveal that FMRP regulates mRNAs with long coding sequences.4. FMRP mRNA targets in Purkinje cells, including the top-ranked IP3 receptor, are related to cell-autonomous Fragile X phenotypes. 5.We have updated our previous list of whole mouse brain FMRP mRNA targets with more replicates, deeper sequencing and improved analysis 6. The use of tagged FMRP in less abundant cell populations allowed identification of novel mRNA targets missed in a whole brain analysis

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“…Considerably more is known about Dp71, which is involved in the maturation and clustering of glutamatergic receptors in hippocampal neurons (Daoud et al, 2009), but also the clustering of water (AQP4) and potassium (Kir4.1) channels in glial cells (Connors, Adams, Froehner, & Kofuji, 2004;Perronnet & Vaillend, 2010). Different studies have implicated a role for the defective functioning of these channels in Dp71 deficient genotypes in the propensity not only to result in epilepsy-albeit theoretically (Hendriksen et al, 2015), but also indirect synaptic alterations and as such cognitive impairment (Daoud et al, 2009;Tadayoni, Rendon, Soria-Jasso, & Cisneros, 2012). This is, to the best of our knowledge, the first study to correlate the expression of the distal dystrophin isoforms to cognitive parameters.…”

Section: Distal Dystrophin Isoforms In Relation To Cognitive Functimentioning

confidence: 99%

The expression of the distal dystrophin isoforms Dp140 and Dp71 in the human epileptic hippocampus in relation to cognitive functioning

et al. 2018

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Dystrophin is an important protein within the central nervous system. The absence of dystrophin, characterizing Duchenne muscular dystrophy (DMD), is associated with brain related comorbidities such as neurodevelopmental (e.g., cognitive and behavioural) deficits and epilepsy. Especially mutations in the downstream part of the DMD gene affecting the dystrophin isoforms Dp140 and Dp71 are found to be associated with cognitive deficits. However, the function of Dp140 is currently not well understood and its expression pattern has previously been implicated to be developmentally regulated. Therefore, we evaluated Dp140 and Dp71 expression in human hippocampi in relation to cognitive functioning in patients with drug-resistant temporal lobe epilepsy (TLE) and post-mortem controls. Hippocampal samples obtained as part of epilepsy surgery were quantitatively analyzed by Western blot and correlations with neuropsychological test results (i.e., memory and intelligence) were examined. First, we demonstrated that the expression of Dp140 does not appear to differ across different ages throughout adulthood. Second, we identified an inverse correlation between memory loss (i.e., verbal and visual memory), but not intelligence (i.e., neither verbal nor performance), and hippocampal Dp140 expression. Finally, patients with TLE appeared to have similar Dp140 expression levels compared to post-mortem controls without neurological disease. Dp140 may thus have a function in normal cognitive (i.e., episodic memory) processes.

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A possible role of dystrophin in neuronal excitability: A review of the current literature

Cited by 49 publications

References 111 publications

Proteomic Analysis of Neuroblastoma‐Derived Exosomes: New Insights into a Metastatic Signature

Proteomic Analysis of Neuroblastoma‐Derived Exosomes: New Insights into a Metastatic Signature

FMRP binding to a ranked subset of long genes is revealed by coupled CLIP and TRAP in specific neuronal cell types

The expression of the distal dystrophin isoforms Dp140 and Dp71 in the human epileptic hippocampus in relation to cognitive functioning

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