Abstract：
:Mutations in tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation and axon guidance and maintenance. Motor impairment, intellectual disability and epilepsy are the main clinical symptoms. In the present study 15 patients from a personal cohort and 75 from 21 published studies carrying mutations in TUBA1A, TUBB2B and TUBB3 tubulin genes were evaluated with the aim to define a clinical and electrophysiological associated pattern. Epilepsy shows a wide range of severity without a specific pattern. Mutations in TUBA1A (60%) and TUBB2B (74%) and TUBB3 (25%) genes are associated with epilepsy. The accurate analysis of the Electroencephalogram (EEG) pattern in wakefulness and sleep in our series allows us to detect significant abnormalities of the background activity in 100% of patients. The involvement of white matter and of the inter-hemispheric connection structures typically observed in tubulinopathies is evidenced by the high percentage of asynchronisms in the organization of sleep activity recorded. In addition to asymmetries of the background activity, excess of slowing, low amplitude and Magnetic Resonance (MR) imaging confirm the presence of extensive brain malformations involving subcortical and midline structures. In conclusion, epilepsy in tubulinopathies when present has a favorable evolution over time suggesting a not particularly aggressive therapeutic approach.
journal_name
Cellsjournal_title
Cellsauthors
Romaniello R,Zucca C,Arrigoni F,Bonanni P,Panzeri E,Bassi MT,Borgatti Rdoi
10.3390/cells8070669subject
Has Abstractpub_date
2019-07-02 00:00:00issue
7issn
2073-4409pii
cells8070669journal_volume
8pub_type
杂志文章,评审相关文献
Cells文献大全abstract：:We have previously shown that the combination of radiotherapy with human umbilical-cord-derived mesenchymal stromal/stem cells (MSCs) cell therapy significantly reduces the size of the xenotumors in mice, both in the directly irradiated tumor and in the distant nonirradiated tumor or its metastasis. We have also shown...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells9092015
更新日期：2020-09-02 00:00:00
abstract：:Cytokine dysregulation is characteristic of systemic lupus erythematosus (SLE), a systemic autoimmune disease of considerable heterogeneity. Insights gained about the cytokine dysregulation in SLE have the potential for identifying patient subsets before the onset of clinical disease and during established disease. Cl...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells9010072
更新日期：2019-12-27 00:00:00
abstract：:Inborn errors of metabolism and diabetes share common derangements in analytes of metabolic networks that are tested for in newborn screening, usually performed 48-72 h after birth. There is limited research examining the metabolic imprint of diabetes on newborn screening results. This paper aims to demonstrate the li...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells9102299
更新日期：2020-10-15 00:00:00
abstract：:Neuroinflammation and cell death are among the common symptoms of many central nervous system diseases and injuries. Neuroinflammation and programmed cell death of the various cell types in the brain appear to be part of these disorders, and characteristic for each cell type, including neurons and glia cells. Concerni...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells9040870
更新日期：2020-04-02 00:00:00
abstract：:Meiosis is required to reduce to haploid the diploid genome content of a cell, generating gametes-oocytes and sperm-with the correct number of chromosomes. To achieve this goal, two specialized cell divisions without intermediate S-phase are executed in a time-controlled manner. In mammalian female meiosis, these divi...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells9020390
更新日期：2020-02-07 00:00:00
abstract：:Epidermal growth factor receptor (EGFR) is the first discovered member of the receptor tyrosine kinase superfamily and plays a fundamental role during embryogenesis and in adult tissues, being involved in growth, differentiation, maintenance and repair of various tissues and organs. The role of EGFR in the regulation ...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells9081887
更新日期：2020-08-12 00:00:00
abstract：:The replication independent (RI) histone H2A.Z is one of the more extensively studied variant members of the core histone H2A family, which consists of many replication dependent (RD) members. The protein has been shown to be indispensable for survival, and involved in multiple roles from DNA damage to chromosome segr...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells9051167
更新日期：2020-05-08 00:00:00
abstract：:Drug resistance is the main obstacle to achieving cures with both conventional and targeted anticancer drugs. The emergence of acquired drug resistance is initially mediated by non-genetic transcriptional changes, which occur at a much higher frequency than mutations and may involve population-scale transcriptomic ada...
journal_title：Cells
pub_type： 杂志文章
doi：10.3390/cells10010144
更新日期：2021-01-12 00:00:00
abstract：:In this study we report the functional comparison of T cell receptor (TCR)-engineered major histocompatibility complex (MHC) class I-restricted CD4+ versus CD8+ T cells targeting a peptide from six transmembrane epithelial antigen of the prostate 1 (STEAP1) in the context of HLA-A*02:01. STEAP1 is a tumor-associated a...
journal_title：Cells
pub_type： 杂志文章
doi：10.3390/cells9071581
更新日期：2020-06-29 00:00:00
abstract：:The finding that transcription occurs at chromosome ends has opened new fields of study on the roles of telomeric transcripts in chromosome end maintenance and genome stability. Indeed, the ends of chromosomes are required to be protected from activation of DNA damage response and DNA repair pathways. Chromosome end p...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells8030246
更新日期：2019-03-15 00:00:00
abstract：:Glycogen synthase kinase 3β (GSK3β), originally described as a negative regulator of glycogen synthesis, is a molecular hub linking numerous signaling pathways in a cell. Specific GSK3β inhibitors have anti-depressant effects and reduce depressive-like behavior in animal models of depression. Therefore, GSK3β is sugge...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells9030727
更新日期：2020-03-16 00:00:00
abstract：:The co-expression of androgen (AR) and estrogen (ER) receptors, in terms of higher AR/ER ratio, has been recently associated with poor outcome in ER-positive (ER+) breast cancer (BC) patients. The aim of this study was to analyze if the biological aggressiveness, underlined in ER+ BC tumors with higher AR/ER ratio, co...
journal_title：Cells
pub_type： 杂志文章
doi：10.3390/cells9041064
更新日期：2020-04-24 00:00:00
abstract：:Substantive evidence demonstrates the contribution of mitochondrial dysfunction in the etiology and pathogenesis of Age-related Macular Degeneration (AMD). Recently, extensive characterization of Mitochondrial‑Derived Peptides (MDPs) has revealed their cytoprotective role in several diseases, including AMD. Here we su...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells9051102
更新日期：2020-04-29 00:00:00
abstract：:Around 2 × 103-2.5 × 103 million years ago, a unicellular organism with radically novel features, ancestor of all eukaryotes, dwelt the earth. This organism, commonly referred as the last eukaryotic common ancestor, contained in its proteome the same functionally capable ubiquitin molecule that all eukaryotic species ...
journal_title：Cells
pub_type： 杂志文章
doi：10.3390/cells3030690
更新日期：2014-07-10 00:00:00
abstract：:We developed tumor-targeting Salmonella typhimurium (S. typhimurium) A1-R, a facultative anaerobe that is an auxotroph of leucine and arginine. The tumor-targeting efficacy of S. typhimurium A1-R was demonstrated in vivo and vitro using several malignant cell lines including melanoma, sarcoma, glioma, breast, pancreat...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells8060599
更新日期：2019-06-16 00:00:00
abstract：:Chronic hyperglycemia has been associated with an increased prevalence of pathological conditions including cardiovascular disease, cancer, or various disorders of the immune system. In some cases, these associations may be traced back to a common underlying cause, but more often, hyperglycemia and the disturbance in ...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells8090999
更新日期：2019-08-28 00:00:00
abstract：:Some species of clover are reported to have beneficial effects in human diseases. However, little is known about the activity of the forage plant Trifolium repens, or white clover, which has been recently found to exert a hepatoprotective action. Scientific interest is increasingly focused on identifying new drugs, es...
journal_title：Cells
pub_type： 杂志文章
doi：10.3390/cells9020379
更新日期：2020-02-06 00:00:00
abstract：:Growth factors are important regulators during organ development. For many vertebrates (but not humans) it is known how they contribute to the formation and expansion of PDX1-positive cells during pancreas organogenesis. Here, the effects of the fibroblast growth factors FGF2, FGF7, FGF10, and epidermal growth factor ...
journal_title：Cells
pub_type： 杂志文章
doi：10.3390/cells9091927
更新日期：2020-08-20 00:00:00
abstract：:Actin and non-muscle myosins have long been known to play important roles in growth cone steering and neurite outgrowth. More recently, novel functions for non-muscle myosin have been described in axons and dendritic spines. Consequently, possible roles of actomyosin contraction in organizing and maintaining structura...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells9092006
更新日期：2020-09-01 00:00:00
abstract：:Chronic myeloid leukemia (CML) has been a "model disease" with a long history. Beginning with the first discovery of leukemia and the description of the Philadelphia Chromosome and ending with the current goal of achieving treatment-free remission after targeted therapies, we describe here the journey of CML, focusing...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells10010117
更新日期：2021-01-10 00:00:00
abstract：:The pathogenesis of inflammatory bowel disease (IBD) is not well-understood; however, increased and persistent intestinal inflammation, due to inappropriate immune responses that are caused by interactions between genetic factors, gut microbiota, and environmental factors, are thought to lead to IBD. Various studies h...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells8050404
更新日期：2019-05-01 00:00:00
abstract：:The function and regulation of amyloid-beta (Aβ) in healthy and diseased liver remains unexplored. Because Aβ reduces the integrity of the blood-brain barrier we have examined its potential role in regulating the sinusoidal permeability of normal and cirrhotic liver. Aβ and key proteins that generate (beta-secretase 1...
journal_title：Cells
pub_type： 杂志文章
doi：10.3390/cells9020452
更新日期：2020-02-17 00:00:00
abstract：:Endocytosis and autophagy are evolutionarily conserved degradative processes in all eukaryotes. Both pathways converge to the lysosome where cargo is degraded. Improper lysosomal degradation is observed in many human pathologies, so its regulatory mechanisms are important to understand. Sec20/BNIP1 (BCL2/adenovirus E1...
journal_title：Cells
pub_type： 杂志文章
doi：10.3390/cells8080768
更新日期：2019-07-24 00:00:00
abstract：:: In this review, we summarize the current knowledge on miRNAs as therapeutic targets in two cancer types that were frequently described to be driven by miRNAs-melanoma and hepatocellular carcinoma (HCC). By focusing on common microRNAs and associated pathways in these-at first sight-dissimilar cancer types, we aim at...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells9010114
更新日期：2020-01-02 00:00:00
abstract：:The role of kinases in the regulation of cell cycle transitions is very well established, however, over the past decade, studies have identified the ever-growing importance of phosphatases in these processes. It is well-known that an intact or otherwise non-deformed nuclear envelope (NE) is essential for maintaining h...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells8070687
更新日期：2019-07-07 00:00:00
abstract：:Cholangiocarcinoma (CCA) is a deadly malignant tumor of the liver. It is a significant health problem in Thailand. The critical obstacles of CCA diagnosis and treatment are the high heterogeneity of disease and considerable resistance to treatment. Recent multi-omics studies revealed the promising targets for CCA trea...
journal_title：Cells
pub_type： 杂志文章
doi：10.3390/cells8050496
更新日期：2019-05-23 00:00:00
abstract：:Cannabidiol (CBD), as the only phytocannabinoid that has no psychoactive effect, has both antioxidant and anti-inflammatory effects, and thus might be suggested as a cytoprotective compound against UV-induced metabolic changes in skin cells. Therefore, the aim of this study was to investigate the level of protective C...
journal_title：Cells
pub_type： 杂志文章
doi：10.3390/cells8090995
更新日期：2019-08-28 00:00:00
abstract：:Transient receptor potential canonical 6 (TRPC6) is a cation selective, DAG-regulated, Ca2+-permeable channel activated by the agonists of Gq-protein-coupled heptahelical receptors. Dysfunctions of TRPC6 are implicated in the pathogenesis of various cardiovascular and kidney conditions such as vasospasm and glomerulos...
journal_title：Cells
pub_type： 杂志文章
doi：10.3390/cells3020247
更新日期：2014-04-04 00:00:00
abstract：:Purine nucleotides are involved in a multitude of cellular processes, and the dysfunction of purine metabolism has drastic physiological and pathological consequences. Accordingly, several genetic disorders associated with defective purine metabolism have been reported. The etiology of these diseases is poorly underst...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells8010067
更新日期：2019-01-17 00:00:00
abstract：:Chemotherapeutic targeting of microtubules has been the standard of care in treating a variety of malignancies for decades. During mitosis, increased microtubule dynamics are necessary for mitotic spindle formation and successful chromosomal segregation. Microtubule targeting agents (MTAs) disrupt the dynamics necessa...
journal_title：Cells
pub_type： 杂志文章,评审
doi：10.3390/cells8040346
更新日期：2019-04-12 00:00:00
