The present invention features compositions of Tmem100 peptides and variants thereof, and their use in treating or preventing diseases or conditions.

Methods for inhibiting degeneration of a neuron, methods of treating a neurological/neurodegenerative disease, methods of modulating the directional growth of a neuron, and methods of interfering with the interaction of Wnt and Ryk are provided herein. Also provided are isolated anti-Ryk antibodies and antibody fragments that specifically bind to a binding domain of Wnt.

Provided is a use of the prophylaxis, amelioration or therapy of intractable epilepsy, for example, Focal Cortical Dysplasia (FCD).

Provided herein are methods of treating a subject having a disease or disorder associated with a PAH gene mutation. The methods generally comprise administering to the subject a therapeutically effective does of a recombinant adeno-associated virus (rAAV) that can express a phenylalanine hydroxylase (PAH) polypeptide in a cell and thereby restore PAH gene function in the subject.

The present invention provides a suppression type antisense oligonucleotide targeting TDP-43 mRNA, containing a nucleotide sequence complementary to a sequence consisting of at least 10 continuous nucleotides in a nucleotide sequence shown in any of SEQ ID NOs: 2-4, and a promotion type antisense oligonucleotide targeting TDP-43 mRNA, containing a nucleotide sequence complementary to a sequence consisting of at least 10 continuous nucleotides in a nucleotide sequence shown in SEQ ID NO: 5.

The present disclosure provides methods and compositions for the treatment of diseases and genetic disorders linked to SLC6A1 loss and/or misfunction. The methods and compositions of the present disclosure comprise rAAV vectors and rAAV viral vectors comprising transgene nucleic acid molecules comprising nucleic acid sequences encoding for a GAT1 polypeptide.

The invention provides a method of modulating electrophysiological activity of an excitable cell. The method involves causing exogenous expression of a glycine receptor (GlyR) protein in an excitable cell of a subject. Thereafter, the excitable cell is exposed to an allosteric modulator of the GlyR protein. Modulation of the exogenous GlyR protein (an ion channel) in response to the allosteric modulator modulates the electrophysiological activity of the excitable cell. The method can be used to control pain in a subject. The invention further provides a replication-defective HSV vector comprising an expression cassette encoding a GlyR protein, stocks and pharmaceutical compositions containing such vectors, and a transgenic animal.

Chimeric proteins comprising an N-terminal domain derived from an N-terminal nucleotide binding domain of TDP-43 and a C-terminal domain derived from a splicing repressor are described. These proteins may be administered to a subject to treat or prevent disease manifesting TDP-43 proteinopathy such as inclusion body myocytosis, amyotrophic lateral sclerosis (ALS), or frontotemporal dementia (FTD).

Inventions relate to medicine, pharmacology, biotechnology, molecular biology, genetic engineering and can be used for analgesia. A plasmid DNA for transient expression in mammalian cells is proposed and represented by DNA backbone containing prokaryotic and eukaryotic elements, as well as a fragment providing enhanced capture of plasmid DNA by cells and a polynucleotide encoding beta-endorphin modified for increasing the affinity for receptors and codon-optimized for expression in mammalian cells. There are also proposed a producer of such plasmid DNA on the basis of a bacterial cell and an analgesic agent for application in mammals, in particular, humans, on its basis. The technical result of the use of the developed plasmid DNA and analgesic based on it is to increase the controllability of the synthesis of beta-endorphin exactly, in increasing the efficiency of plasmid DNA from which beta-endorphin is synthesized, and reducing its amount to achieve analgesia, in increasing the duration of analgesia and in expanding the spectrum of analgesic drugs.

The invention provides a method of screening for a potential candidate for treating autism, epilepsy and/or intellectual disability in a subject in need comprising contacting a cell culture or an animal with the potential drug and detecting one or more of the following features: enhancing with the binding of apocalmodulin to the IQ domain of IQSEC2; reducing the production of ARF6-GTP; inhibiting the constitutive activation of guanine nucleotide exchange factor (GEF) IQSEC2; increasing the surface expression of AMPA receptors the brain or a cell; and/or increasing basal synaptic transmission in the brain or the cell. Further provided is a method of treating autism, epilepsy and/or intellectual disability in a subject in need by administering a drug capable of presenting one or more of the above identified features in the described cell and animal models.