42 results about "Neurofibra" patented technology

Provided herein are PAK inhibitors and methods of utilizing PAK inhibitors for the treatment of CNS disorders such as neuropsychiatric disorders or neurofibromatosis. Also described herein are methods of utilizing PAK inhibitors for the treatment of cancer.

This invention relates to methods for altering the splicing of mRNA in cells. In particular, this invention also relates to methods for increasing the ratio of wild type to misspliced forms of mRNA and corresponding encoded proteins in cells possessing a mutant gene encoding either the i) misspliced mRNA corresponding to the mutant protein or ii) a component in the splicing machinery responsible for processing the misspliced mRNA. In addition, this invention relates to treating individuals having a disorder associated with a misspliced mRNA, such as Familial Dysautonomia or Neurofibromatosis 1, by administering to such an individual a cytokinin such as kinetin.

Disclosed are devices, systems and methods for non-invasive neuromodulation system for treating inherited or acquired retinal, choroidal and optic nerve disorders caused by acute or chronic dysregulated reduced ocular blood flow (OBF) and / or energy failure by up regulation of trigemino-vascular system (TVS), trigeminal autonomic brain reflexes (TABRs) and pancreatic trigemino-vagal reflex (TVR) through stimulation of ophthalmic nerve (V1), more specifically but not limited to SP, and CGRP containing unmyelinated C nerve fibers. The invention, in some embodiments thereof, relates to the methods for enhancing SP and CGRP expression in neurovascular tissue of the retina and choroid. The invention, in some embodiments thereof, relates to SP / CGRP mediated pathways, including those involved in vasodilatation, augmentation of OBF, RPE proliferation, prevention of apoptosis, suppressing neuroinflammation, promoting migration and differentiation of vascular endothelial cells as well as mobilization of endogenous mesenchymal stem cells (EMSCs) from the bone marrow to the circulation to accelerate tissue repair. The site of stimulation of V1 nerve includes but not limited to; nasal vestibule nasal bridge, forehead, and upper eyelids. Additionally or alternatively, the subject's sympathetic nervous system (SNS) is down regulated by sympatholytic agents specifically antioxidants. The subject's TVS and autonomic nervous system (ANS) are modulated in a manner that is effective to treat the subject for retinal, choroidal and / or optic nerve disorders. In some embodiments, the devices are handheld, portable with nose supported, having one or more intra-nasal or extra-nasal application heads. The signal can include vibration, chemical, ultrasonic, optical, electrical, hybrid electro-optical or combination of two or more of these types of stimuli. The invention, in some embodiments thereof, relates to a method for decreasing vascular resistance, enhancing vasodilatation in ophthalmic artery and its branches by the release of Vasoactive intestinal peptide (VIP),substance P and CGRP thereof increasing OBF to the retina, choroid and optic nerve in subject's with acute or chronic dysregulated, reduced OBF. The invention, in some embodiments thereof, is also related to the methods for improving delivery of oxygen, glucose, vitamin A, humoral mediators, growth factors, stem cells and pharmacological agents to the targeted tissues of the retina, choroid and optic nerve. The invention, in some embodiments thereof, relates to the methods for improving pancreatic insulin secretion, thereof to enhance glucose uptake by PRs and other retinal cells. Additionally or alternatively, the invention relates to restoration of transduction of signaling in cone PRs by ONS induced glutamate release. The methods of the invention, in some embodiments thereof, include priming of the retina choroid and optic nerve thereof to enhance the efficacy of cell transplantation therapy. The methods of the invention, in some embodiments thereof, also include identifying a subject prone to or suffering from a disease or condition associated with reduced OBF. Methods of the invention, in some embodiments thereof, may also include monitoring the subject for prophylactic treatment where the patients are at pre-clinical stage of the disease. The OBF of subjects who had received neuromodulation treatment may also be monitored for re-treatment.The present invention, in some embodiments thereof, relates to a method and / or device for treatment of dysregulated reduced blood (e.g. reduced ocular blood flow) and, more particularly, but not exclusively, to methods and / or devices for treatment retinal, choroidal and optic nerve disorders. Optionally, treatment may include application of an effective amount of ONS ophthalmic nerve stimulation alone and / or in combination with pen-ocular administration of substance Neuropeptides / Platelet Rich Plasma (N / PRP) and / or ascorbic acid as a sympatholytic agent

The present methods treat neurofibromatosis by a administering to a subject perillyl alcohol or iso-perillyl alcohol. The present methods also treat neurofibromatosis by administering to a subject a carbamate of perillyl alcohol, or a carbamate of iso-perillyl alcohol. The perillyl alcohol carbamate may comprise perillyl alcohol conjugated with rolipram or temozolomide.

The invention relates to a polypeptide, wherein said polypeptide comprises or consists of an EGF-like domain of a neuregulin protein. The invention more over relates to a nucleic acid encoding for said polypeptide, a gene therapy vector comprising said nucleic acid and genetically modified cells expressing said polypeptide. The invention relates to the medical use of said polypeptide, said nucleicacid, said gene therapy vector or said cell for the treatment of tumours of the nervous system, in particular for the treatment of tumours of the cranial or peripheral nerves, tumours associated withneurofibromatosis, schwannomas, neurofibromas and malignant nerve sheath tumours.

The invention provides fluorescence-labeled pyrazine compounds for beta-amyloid plaques and neurofibrillary tangles. The general structural formula of the compounds is as shown in a formula (I) or a formula (II) which is described in the specification. In the formula, n is 1, 2 or 3. The invention also provides a preparation method and application of the compounds. The compounds can be directly used as a developer for detecting or developing beta-amyloid plaques or neurofibrillary tangles in the tissue of animal or human bodies. The compounds are especially applicable to preparation of developers or diagnosis medicines used for direct detection and diagnosis of beta-amyloid deposit diseases or neurofibrillary tangle diseases including the Alzheimer disease.

The invention provides a method of inducing neurofibromatosis type 2 (NF2) in Schwann cells. The method comprises contacting the cells with laminin-1 so as to bind α6β1 integrin sufficiently to activate endogenous kinase Cdc42-Pak; and phosphorylating Schwannomin-S518 in the cells by the activated kinase, effectively inactivating. Schwannomin's tumor suppressor activity and allowing proliferation of subconfluent Schwann cells, thereby modeling NF2. The invention also includes a method of preventing a Schwann cell from forming a tumor by contacting the cell with an amount of tyrphostin AG825 sufficient to inhibit a receptor selected from ErB2, ErB3, β1 integrins and combinations thereof, so as to prevent phosphorylation of Schwannomin-S815 by one or more endogenous kinases.

Presently claimed invention related to a pharmaceutical composition comprising ascorbic acid, caffeoylquinic acid, rosmarinic acid. and glycosyl sulfones obtained from Ocimum Sanctum and a process for isolating said composition from Ocimum Sanctum. Presently claimed invention also provides a method of treating neural crest derived tumors such as malignant neurofibroma and melanoma.

The present invention relates to a new mutation-causing gene of NF1 related to neurofibromatosis type 1 disease, which belongs to the field of molecular biology. The nucleic acid sample of the new mutation-causing gene and the NF1 gene are as shown in SEQ ID NO: 1 Nucleotide change compared to nucleotide sequence: c.738delA; also involves a mutant protein encoded by a new mutation-causing gene. The present invention discloses for the first time that the c.738delA site mutation of NF1 gene is related to neurofibromatosis type 1 disease, and provides the application of the new mutation-causing gene in the preparation of reagents or kits for detecting or screening NF1 lesions. Further provide kits for screening neurofibromatosis type 1 disease, improve more mutation genes of neurofibromatosis type 1 disease, and provide more reliable guidance for timely detection and treatment of patients.

The present invention includes macrocyclic prodrug compounds, pharmaceutical compositions comprising them. The present invention also includes the use of these compounds in the treatment of various diseases including autoimmune diseases, inflammatory diseases, neurological diseases or neurodegenerative diseases, cancer, cardiovascular diseases, allergies, asthma, hormone-related diseases and tumors or symptoms caused by neurofibromatosis.

In some embodiments, disclosed herein are oligomeric compounds which include one or more tricyclo-deoxyribonucleic acid (tc-DNA) nucleosides and one or more 2′-modified ribonucleic acid (2′-modified-RNA) nucleosides, and which optionally also include one or more non-nucleotides, each of which is joined by a plurality of internucleoside linkages, including pharmaceutical compositions and methods of using the pharmaceutical compositions for the treatment of diseases including Duchenne muscular dystrophy treatment of familial dysautonomia, spinal muscular atrophy, ataxia telangiectasia, congenital disorder of glycosylation, fronto-temporal dementia, Parkinsonism linked to chromosome 17, Niemann-Pick disease type C, neurofibromatosis type 1, neurofibromatosis type 2, megalencephalic leukoencephalopathy with subcortical cysts type 1, Pelizaeus-Merzbacher disease, Pompe disease, myotonic dystrophy type 2 (DM2 or proximal myotonic myopathy), and myotonic dystrophy type 1 (DM1 or Steinert disease).

Aspects of the disclosure relate to compositions and methods of treating certain genetic disease (e.g., Neurofibromatosis type I) by delivering functional neurofibromin 1 (NF1) protein (e.g., mini-NF1 protein and / or full-length NF1 protein) to target cell (e.g., cells and / or tissue of a subject). The disclosure is based, in part, on isolated nucleic acids (e.g., rAAV vectors) and rAAVs engineered to express a functional NF1 protein (e.g., mini-NF1 protein and / or full-length NF1 protein) or variants thereof.