Neurodevelopmental disorders related to protein phosphatase 2A (PP2A) have been recently renamed as Houge-Janssens syndrome and they are caused by heterozygous, de novo pathogenic genetic variants in the PPP2R5D, PPP2R1A or PPP2CA genes. The syndrome is characterized by features such as intellectual disability, autism, developmental delay, seizures or brain abnormalities, among others.
Researchers from Guangzhou Medical University and affiliated organizations presented data from a study that aimed to investigate the disease-causing mechanism of EP400, a gene that encodes the E1A binding protein p400, which is a core catalytic ATPase subunit of ATP-dependent chromatin remodeling complexes.
WD repeat domain 83 opposite strand (WDR83OS) encodes the 106-aa (amino acid) protein Asterix, which is a binding partner for CCDC47. More specifically, Asterix heterodimerizes with CCDC47 to form the protein associated with ER translocon (PAT) complex that specifically chaperones large proteins containing transmembrane domains.
Adherens junction-associated protein 1 (AJAP1) is a transmembrane protein that inhibits tumor cell migration and is a susceptibility gene for migraine. Recent hypotheses have pointed toward the potential involvement of AJAP1 in epilepsy and other neurological disorders.
Ractigen Therapeutics Co. Ltd. has entered into a formal collaboration with University Medical Center Utrecht, affiliated with Utrecht University, to advance the development of small activating RNA (saRNA)-based treatments for a spectrum of intractable neurodevelopmental disorders.
Stalicla SA announced the first close of a series B round at $17.4 million, which provides the means to complete preparations for both a phase III trial of the lead program, STP-7, in the treatment of cocaine misuse disorder, and of a phase II trial of STP-1 in autism spectrum disorder (ASD).
At the recent American Society of Human Genetics meeting, researchers from Stanford University reported clinical and functional evidence of the involvement of ARHGAP1, a Rho GTPase-activating protein (GAP) gene, in a patient exhibiting a syndromic neurodevelopmental disorder.
The DDX39B gene belongs to the DExD/H-box family of ATP-dependent RNA helicases, playing a vital role in mRNA processing. DDX39B is a component of the TRanscription-EXport (TREX) protein complex, whose pathogenic variants have been recently associated with neurodevelopmental and neurodegenerative disorders.
Researchers from Children’s Hospital of Philadelphia presented data from a study that linked variants in DNA methyltransferase 1-associated protein 1 (DMAP1) to a novel neurodevelopmental disorder.
To deeply investigate the potential role of UTX in neurogenesis, scientists have developed a KDM6A-deficient murine model in neural stem/progenitor cells (NSPCs).
