Abstract：
:KCND3 encodes the voltage-gated potassium ion channel subfamily D member 3, a six trans-membrane protein (Kv4.3), involved in the transient outward K+ current. KCND3 defect causes both cardiological and neurological syndromes. From a neurological perspective, Kv4.3 defect has been associated to SCA type 19/22, a complex neurological disorder encompassing a wide spectrum of clinical features beside ataxia. To better define the phenotypic spectrum and course of KCND3-related neurological disorder, we review the clinical presentation and evolution in 68 reported cases. We delineated two main clinical phenotypes according to the age of onset. Neurodevelopmental disorder with epilepsy and/or movement disorders with ataxia later in the disease course characterized the early onset forms, while a prominent ataxic syndrome with possible cognitive decline, movement disorders, and peripheral neuropathy were observed in the late onset forms. Furthermore, we described a 37-year-old patient with a de novo KCND3 variant [c.901T>C (p.Ser301Pro)], previously reported in dbSNP as rs79821338, and a clinical phenotype paradigmatic of the early onset forms with neurodevelopmental disorder, epilepsy, parkinsonism-dystonia, and ataxia in adulthood, further expanding the clinical spectrum of this condition.
journal_name
Int J Mol Scijournal_title
International journal of molecular sciencesauthors
Pollini L,Galosi S,Tolve M,Caputi C,Carducci C,Angeloni A,Leuzzi Vdoi
10.3390/ijms21165802subject
Has Abstractpub_date
2020-08-13 00:00:00issue
16issn
1422-0067pii
ijms21165802journal_volume
21pub_type
杂志文章,评审abstract：:Cementum is a mineralized layer on the tooth's root surface and facilitates the biomechanical anchoring of fibrous connective tissues as a part of tooth-supportive complexes. Previously, we observed that OCCM30 cementoblasts cultured on fibrin matrices underwent apoptosis due to fibrin degradation through the expressi...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms18112380
更新日期：2017-11-09 00:00:00
abstract：:Understanding disease pathology often does not require an overall proteomic analysis of clinical samples but rather the analysis of different, often rare, subpopulations of cells in a heterogeneous mixture of cell types. For the isolation of pre-specified cellular subtypes, fluorescence activated cell sorting (FACS) i...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21186557
更新日期：2020-09-08 00:00:00
abstract：:Drought stress is the major abiotic factor threatening maize (Zea mays L.) yield globally. Therefore, revealing the molecular mechanisms fundamental to drought tolerance in maize becomes imperative. Herein, we conducted a comprehensive comparative analysis of two maize inbred lines contrasting in drought stress tolera...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms19103225
更新日期：2018-10-18 00:00:00
abstract：:During plant-pathogen interactions, plants have to relocate their resources including energy to defend invading organisms; as a result, plant growth and development are usually reduced. Arabidopsis signal responsive1 (AtSR1) has been documented as a negative regulator of plant immune responses and could serve as a pos...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms19061764
更新日期：2018-06-14 00:00:00
abstract：:Arterial calcification, the deposition of calcium-phosphate crystals in the extracellular matrix, resembles physiological bone mineralization. It is well-known that extracellular nucleotides regulate bone homeostasis raising an emerging interest in the role of these molecules on arterial calcification. The purinergic ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21207636
更新日期：2020-10-15 00:00:00
abstract：:Acrylic bone cement is widely used in orthopedic surgery for treating various conditions of the bone and joints. Bone cement consists of methyl methacrylate (MMA), polymethyl methacrylate (PMMA), and benzoyl peroxide (BPO), functioning as a liquid monomer, solid phase, and polymerization initiator, respectively. Howev...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21114016
更新日期：2020-06-04 00:00:00
abstract：:This study reports the effect of Spilanthes acmella Murr. extracts on phenylephrine-induced contraction of rat thoracic aorta as well as their antioxidant activity. Results show that the extracts exert maximal vasorelaxations in a dose-dependent manner, but their effects are less than acetylcholine-induced nitric oxid...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms9122724
更新日期：2008-12-01 00:00:00
abstract：:In 1993, Rosen and collaborators discovered that the gene encoding SOD1 has mutations in amyotrophic lateral sclerosis (ALS) patients; moreover, these mutations are found in the exon regions, suggesting that their toxic effects are the consequence of protein dysfunction with an increase of oxidative stress. While a cl...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms19051345
更新日期：2018-05-03 00:00:00
abstract：:Four-stranded DNA structures were structurally characterized in vitro by NMR, X-ray and Circular Dichroism spectroscopy in detail. Among the different types of quadruplexes (i-Motifs, minor groove quadruplexes, G-quadruplexes, etc.), the best described are G-quadruplexes which are featured by Hoogsteen base-paring. Se...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms151017493
更新日期：2014-09-29 00:00:00
abstract：:Impairment of mucociliary clearance with reduced airway fluid secretion leads to chronically inflamed airways. Cystic fibrosis transmembrane conductance regulator (CFTR) is crucially involved in airway fluid secretion and dexamethasone (dexa) has previously been shown to elevate CFTR activity in airway epithelial cell...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms18081807
更新日期：2017-08-19 00:00:00
abstract：:The frequency and volume of Asian sand dust (ASD) (Kosa) are increasing in Japan, and it has been reported that ASD may cause adverse respiratory effects. The pulmonary toxicity of ASD has been previously analyzed in mice exposed to ASD particles by intratracheal instillation. To study the pulmonary toxicity induced b...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms19020416
更新日期：2018-01-31 00:00:00
abstract：:Background-It is recognized that inflammation is an underlying cause of dry eye disease (DED), with cytokine release involved. We systematically reviewed literature with meta-analyses to quantitatively summarize the levels of tear cytokines in DED. Methods-The PubMed, Embase, Web of Science, Ovid, Cochrane, and Scopus...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21093111
更新日期：2020-04-28 00:00:00
abstract：:The alarming escalation of infectious diseases resistant to conventional antibiotics requires urgent global actions, including the development of new therapeutics. Antimicrobial peptides (AMPs) represent potential alternatives in the treatment of multi-drug resistant (MDR) infections. Here, we focus on Cecropins (Cecs...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20235862
更新日期：2019-11-22 00:00:00
abstract：:MicroRNAs (miRNAs) are important post-transcriptional regulators during adipocyte adipogenesis. MiR-206-3p, a tissue-specific miRNA, is absent in white adipocytes. In this study, we examined the roles of mmu-miR-206-3p in the adipogenic differentiation of 3T3-L1 preadipocytes. The miR-206-3p expression has shown an ap...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms18071510
更新日期：2017-07-14 00:00:00
abstract：:The aging kidney is a marked by a number of structural and functional changes, including an increased susceptibility to acute kidney injury (AKI). Previous studies from our laboratory have shown that aging male Fischer 344 rats (24 month) are more susceptible to apoptosis-mediated injury than young counterparts. In th...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms18020368
更新日期：2017-02-10 00:00:00
abstract：:Biotic stresses do damage to the growth and development of plants, and yield losses for some crops. Confronted with microbial infections, plants have evolved multiple defense mechanisms, which play important roles in the never-ending molecular arms race of plant⁻pathogen interactions. The complicated defense systems i...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms20020335
更新日期：2019-01-15 00:00:00
abstract：:Peanut samples were irradiated (0.0, 5.2, 7.2 or 10.0 kGy), stored for a year (room temperature) and examined every three months. Mycotoxic fungi (MF) were detected in non-irradiated blanched peanuts. A dose of 5.2 kGy was found suitable to prevent MF growth in blanched samples. No MF was detected in in-shell peanuts,...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms130910935
更新日期：2012-01-01 00:00:00
abstract：:Hericium Erinaceus (HE) is a medicinal plant known to possess anticarcinogenic, antibiotic, and antioxidant activities. It has been shown to have a protective effect against ischemia-injury-induced neuronal cell death in rats. As an extending study, here we examined in pheochromocytoma 12 (PC12) cells, whether HE coul...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21062138
更新日期：2020-03-20 00:00:00
abstract：:Antioxidant capacity (AOC) against peroxyl radical and 2,2'-azino-bis-(3-ethylbenzothiazoline-6-sulphonic acid) diammonium salt (ABTS) radical cation was measured for a series of p-hydroxybenzoic (HB) and p-hydroxycinnamic (HC) acids at different pH. Quantum-chemical computation was performed using Gaussian 3.0 softwa...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms150916351
更新日期：2014-09-16 00:00:00
abstract：:As part of the optimization of assisted reproductive technology programs, the aim of the study was to identify key small noncoding RNA (sncRNA) molecules that participate in maternal-to-zygotic transition and determine development potential and competence to form a healthy fetus. Small RNA deep sequencing followed by ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21249399
更新日期：2020-12-10 00:00:00
abstract：:Neuroblastoma is a common childhood cancer with almost a third of those affected still dying, thus new therapeutic strategies need to be explored. Current experimental therapies focus mostly on inhibiting oncogenic transcription factor signalling. Although LIN28B, DICER and other RNA-binding proteins (RBPs) have repor...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21145098
更新日期：2020-07-19 00:00:00
abstract：:Understanding how cell organelles and compartments communicate with each other has always been an important field of knowledge widely explored by many researchers. However, despite years of investigations, one point-and perhaps the only point that many agree on-is that our knowledge about cellular-signaling pathways s...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms21176173
更新日期：2020-08-26 00:00:00
abstract：:Psychotropics (antipsychotics, mood stabilizers, antidepressants, anxiolytics, etc.) are commonly prescribed to treat Huntington's disease (HD). In HD preclinical models, while no psychotropic has convincingly affected huntingtin gene, HD modifying gene, or huntingtin protein expression, psychotropic neuroprotective e...
journal_title：International journal of molecular sciences
pub_type： 杂志文章,评审
doi：10.3390/ijms141122558
更新日期：2013-11-15 00:00:00
abstract：:Metastatic castration-resistant prostate cancer is commonly treated with chemotherapy, whose effect is less than satisfactory. This raised the need for novel agents for the treatment of prostate cancer. In the present study, five phthalimide-based curcumin derivatives were synthesized and completely characterized to a...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20010028
更新日期：2018-12-21 00:00:00
abstract：:Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases. Age at diagnosis and family history may increase the yield of mutations screening. In order to assess whether Next-Generation...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms17081239
更新日期：2016-07-30 00:00:00
abstract：:Geobacter species are capable of utilizing solid-state compounds, including anodic electrodes, as electron acceptors of respiration via extracellular electron transfer (EET) and have attracted considerable attention for their crucial role as biocatalysts of bioelectrochemical systems (BES's). Recent studies disclosed ...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms18010108
更新日期：2017-01-06 00:00:00
abstract：:During their lifespan, Red blood cells (RBC), due to their inability to self-replicate, undergo an ageing degradation phenomenon. This pathway, both in vitro and in vivo, consists of a series of chemical and morphological modifications, which include deviation from the biconcave cellular shape, oxidative stress, membr...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms19092582
更新日期：2018-08-30 00:00:00
abstract：:Mitogen-activated protein kinases (MAPKs) are key regulators of numerous biological processes in plants. To better understand the mechanisms by which these kinases function, high resolution measurement of MAPK activation kinetics in different biological contexts would be beneficial. One method to measure MAPK activati...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms21155350
更新日期：2020-07-28 00:00:00
abstract：:Much of the experimental data, especially in life sciences, is considered to be useless if it demonstrates a large standard deviation from the mean value. The Renaissance distribution, as presented in this study, allows one to extract true values from such statistical data with large noise. To obtain proof of the Rena...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms20133250
更新日期：2019-07-02 00:00:00
abstract：:Glutathione Transferases (GSTs) are phase II detoxification enzymes known to be involved in the molecular response against microcystins (MCs) induced toxicity. However, the individual role of the several GST isoforms in the MC detoxification process is still unknown. In this study, the time-dependent changes on gene e...
journal_title：International journal of molecular sciences
pub_type： 杂志文章
doi：10.3390/ijms16048397
更新日期：2015-04-15 00:00:00
