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19 results for “CDKL5”
Cyclin-Dependent Kinase-Like 5 (CDKL5); A Target Enabling Package
<p>The protein kinase CDKL5 is best known for harbouring loss of function mutations that cause a variant of Rett syndrome, CDKL5 deficiency disorder, that predisposes to seizures and mental retardation. Recent kinome-wide screening has identified CDKL5 as a therapeutic target to ameliorate acute kidney injury, which is a common complication of hospitalisation that can lead to chronic kidney disease. There are currently no proven treatments. We prepared recombinant proteins for the kinase domains of CDKL1, CDKL2, CDKL3 and CDKL5 and solved the structures of these kinases in complex with identified inhibitors at resolutions from 1.5 to 2.4 Å. Overall, the structures capture the kinases with both active and inactive conformations and provide a model to explain the effects of CDKL5 mutation. An <em>in vitro</em> kinase assay showed the importance of a C-terminal αJ helix for the activity of CDKL2 and CDKL3, but not CDKL1 and CDKL5. Functional analyses of the single orthologue in C. elegans CDKL-1 also suggested that CDKL proteins can limit cilia length, which could potentially contribute to the neurological defects in CDKL5 deficiency syndrome. AST-487 and ASC67 present inhibitors of CDKL5 that could be developed for treating acute kidney injury. However, future work is needed to improve selectivity in this drug development.</p>
16S rRNA Sequencing Data of Fecal Microbiota in an Italian Cohort of Patients with CDKL5 Deficiency Disorder
<h3>Summary of the study </h3> <p>CDKL5 deficiency disorder (CDD) is a neurodevelopmental condition characterized by global developmental delay, early-onset seizures, intellectual disability, visual and motor impairments, distinct from Rett Syndrome (RTT) due to the absence of a clear regression period. Gastrointestinal (GI) disturbances and signs of subclinical immune dysregulation are common in CDD patients, yet the underlying causes are unknown. Recent studies hint at a possible link between neurological disorders and gut microbiota, an unexplored area in CDD. In this groundbreaking study, we examined fecal microbiota in CDD patients and their healthy relatives, revealing differences in bacterial diversity and composition. We further investigated microbiota changes based on various factors, including the severity of GI issues, seizure frequency, sleep disorders, food intake type, neuro-behavioral features (assessed through the RTT Behaviour Questionnaire – RSBQ), and ambulation capacity. </p> <p>Our findings suggest a potential connection between CDD, microbiota, and symptom severity. This study represents the first exploration of the gut-microbiota-brain axis in CDD patients, contributing to the growing body of research on the role of gut microbiota in neurodevelopmental disorders. It opens doors to potential interventions targeting intestinal microbes to enhance the well-being of individuals with CDD.</p> <h3>Mehods</h3> <p>The Dataset represent the raw data (.fastq) obtained from the sequencing of the fecal samples from 17 Italian Patients with CDD, and 17 Healthy Relatives (i.e. siblings or mother), collected at a single time-point.</p> <p>Samples from Patients affected by CDD are called CDD, samples from Healthy Relatives are called HC-CDD (i.e. healthy controls of patients affected by CDD). For details about the sample names see the “Explanation Table”.</p> <p>Bacterial DNA was extracted from fecal samples using the QIAmp Powerfexal DNA Kit (Qiagen, Germany) following the manufacturer's protocol. The 16S rRNA sequencing and analysis was performed by a service offered by Zymo Research (Germany).</p> <p><em>Targeted Library Preparation</em>: The DNA samples were prepared for targeted sequencing with the Quick-16S™ NGS Library Prep Kit (Zymo Research). The primer sets used were Quick-16S™ Primer Set V3-V4 (Zymo Research). The sequencing library was prepared using an innovative library preparation process in which PCR reactions were performed in real-time PCR machines to control cycles and therefore limit PCR chimera formation. The final PCR products were quantified with qPCR fluorescence readings and pooled together based on equal molarity. The final pooled library was cleaned up with the Select-a-Size DNA Clean & Concentrator™, then quantified with TapeStation® (Agilent Technologies, Santa Clara, CA) and Qubit® (Thermo Fisher Scientific, Waltham, WA). </p> <p><em>Sequencing:</em> The final library was sequenced on Illumina® MiSeq™ with a v3 reagent kit (600 cycles). </p>
A Multicenter, Open-label, Pilot Study of Soticlestat (TAK-935/OV935) in Participants With 15Q Duplication Syndrome (Dup 15q) or Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (ARCADE STUD
ClinicalTrials.gov study NCT03694275. IPD Sharing: YES. Countries: 1. Publications: 1.
Perirhinal cortex abnormalities impair hippocampal plasticity and learning in Scn2a, Fmr1, and Cdkl5 autism mouse models
Open the record for dataset details and reuse information.
Fenfluramine in CDKL5 Deficiency Disorder (CDD)
ClinicalTrials.gov study NCT03861871. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Study of Adjunctive Ganaxolone Treatment in Children and Young Adults With CDKL5 Deficiency Disorder
ClinicalTrials.gov study NCT03572933. IPD Sharing: Not stated. Countries: 8. Publications: 2.
Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome
ClinicalTrials.gov study NCT02758626. IPD Sharing: NO. Countries: 1. Publications: 1.
International CDKL5 Clinical Research Network
ClinicalTrials.gov study NCT05558371. IPD Sharing: YES. Countries: 2. Publications: 9.
Targeting the Gut to Improve Seizure Control in CDKL5 Deficiency Disorder (CDD)
ClinicalTrials.gov study NCT06448663. IPD Sharing: NO. Countries: 1. Publications: 2.
Double-blind, Randomized, Placebo-controlled Trial of Ganaxolone in CDKL5 Deficiency Patients 6 Months to Less Than 2 Years Old
ClinicalTrials.gov study NCT05249556. IPD Sharing: Not stated. Countries: 0. Publications: 1.
Artificial escape from XCI by DNA methylation editing of the CDKL5 gene [methylation array]
GEO Series GSE137541. Homo sapiens. 8 samples. Type: Methylation profiling by genome tiling array.
A Study to Investigate the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder
ClinicalTrials.gov study NCT05064878. IPD Sharing: YES. Countries: 14. Publications: 0.
The Association Between Fever and CDKL5 Deficiency Disorder: a Nationwide Survey
ClinicalTrials.gov study NCT06663163. IPD Sharing: NO. Countries: 1. Publications: 0.
International CDKL5 Registry
ClinicalTrials.gov study NCT04486768. IPD Sharing: YES. Countries: 1. Publications: 0.
Efficacy and Safety Evaluation of Hyperthermic Baths in the Treatment of Seizures in CDKL5 Deficiency Disorder
ClinicalTrials.gov study NCT06447675. IPD Sharing: NO. Countries: 1. Publications: 0.
Transcriptomic Profiling of Zebrafish Mutant for cdkl5 Reveals Dysregulated Gene Expression Associated with Neuronal and Skeletal Development
GEO Series GSE294284. Danio rerio. 20 samples. Type: Expression profiling by high throughput sequencing.
Artificial escape from XCI by DNA methylation editing of the CDKL5 gene
GEO Series GSE137668. Homo sapiens. 21 samples. Type: Methylation profiling by genome tiling array; Expression profiling by high throughput sequencing.
Artificial escape from XCI by DNA methylation editing of the CDKL5 gene [RNA-seq]
GEO Series GSE137663. Homo sapiens. 13 samples. Type: Expression profiling by high throughput sequencing.
Dataset related to article "CDKL5 deficiency disorder in males: Five new variants and review of the literature"
<p>rawdata related to article at title</p>
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