Search results
Results from the WOW.Com Content Network
The CDKL5 protein acts as a kinase, which is an enzyme that modulates the activity of other proteins by adding a phosphate group to specific positions. The CDKL5 protein regulates neuronal morphology through cytoplasmic signaling and by controlling gene expression, playing a crucial role in the development and maintenance of the nervous system.
CDD is a rare condition although >1,000 cases have been reported worldwide; 80-90% of the cases are female [4] While originally classified as an atypical variant of Rett syndrome, CDKL5 Deficiency Disorder (CDD) is an independent disorder and results from a pathogenic variant in a different gene (CDKL5 in CDD; MECP2 in Rett).
12568 Ensembl ENSG00000164885 ENSMUSG00000028969 UniProt Q00535 P49615 RefSeq (mRNA) NM_001164410 NM_004935 NM_007668 RefSeq (protein) NP_001157882 NP_004926 NP_031694 Location (UCSC) Chr 7: 151.05 – 151.06 Mb Chr 5: 24.62 – 24.63 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Cyclin-dependent kinase 5 is a protein, and more specifically an enzyme, that is encoded by the Cdk5 ...
Soticlestat (TAK-935, OV-935) is an experimental anticonvulsant and cholesterol 24-hydroxylase inhibitor being investigated as a treatment for Dravet syndrome, Lennox–Gastaut syndrome, tuberous sclerosis complex, dup15q syndrome, and CDKL5 deficiency disorder. [1] [2] The development rights to the drug were purchased by Takeda Pharmaceuticals ...
A recent review shows who newer medications for type 2 diabetes may help the most, particularly in reducing the risk of cardiovascular disease. Whose cardiovascular health do SGLT2, GLP-1 diabetes ...
Texas law enforcement issued a word of warning to Ford truck owners after they arrested a trio of thieves who targeted the high-end truck model by stealing taillights.
Billionaire Elon Musk is categorized as a "special government employee" through his work with the Department of Government Efficiency, or DOGE, a cost-cutting initiative created by President Trump ...
CDKL5 deficiency disorder: CDKL5 [9] 1:40,000-60,000 [9] Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (CEDNIK) SNAP29 <1:1,000,000 [10] Cleft palate short stature vertebral anomalies syndrome: Combined malonic and methylmalonic aciduria (CMAMMA) ACSF3: recessive [11] [12] 1:30,000 [11] Combined malonic and methylmalonic ...