Abstract: There is a need for delivery platforms with robust capacity that offer the possibility to deliver diverse protein-based therapeutics into specific cells. Described herein is a platform for delivering cargo polypeptides into cells, which is based on a recombinant molecule comprising: a cargo polypeptide, a diphtheria toxin enzymatic fragment (DTA), and a diphtheria toxin translocation fragment (DTB). The platform has been employed to deliver diverse cargo into cells, including those having low or high molecular weights. A hyper-stable cargo polypeptide has been delivered, as well as proteins of therapeutic significance (e.g, MecP2, SMN, FMRP, PNP, alpha-amylase, and RRSP). The platform is also useful for delivering genome-modifying proteins, such as the CRISPR protein, Cas9. Associated nucleic acids, pharmaceutical compositions, methods, uses, and kits are also described, including those of therapeutic significance aimed at treating diseases or disorders caused by enzyme or protein deficiency.

Abstract: A method of diagnosing cancer in a mammal is provided. The method includes the steps of determining in a nucleic acid-containing sample from the mammal the degree of DNA methylation of a target region within the hTERT promoter from the nucleotide at about position ?157 to the nucleotide at about position ?580, or a corresponding target region in a TERT promoter in a mammal other than a human, to yield a sample methylation signature, determining the baseline degree of DNA methylation of the target region in a control sample to yield a control methylation signature, comparing the sample methylation signature to the control methylation signature and rendering a diagnosis of cancer when there is at least 1.5 times more methylation in the sample methylation signature as compared to the control methylation signature. Methods of determining tumour grade and progression, predicting survival and determining whether or not a mammal is a candidate for telomerase-targeted or demethylation therapy are also provided.

Abstract: The invention is a novel MECP2E1 splice variant and its corresponding polypeptide. The invention also includes methods of using these nucleic acid sequences and proteins in medical diagnosis and treatment of neuropsychiatric disorders or development disorders.

Abstract: The invention is a novel MECP2E1 splice variant and its corresponding polypeptide. The invention also includes methods of using these nucleic acid sequences and proteins in medical diagnosis and treatment of neuropsychiatric disorders or development disorders.

Abstract: A method for treating and/or preventing VacA+ H. pylori infection and a disorder associated with VacA+ H. pylori infection is provided. The method comprises the administration of TRPML agonists such as ML-SA1, SF-22, SF-51, MK6-83 and their derivatives.

Abstract: Methods of determining the risk of ASD in an individual are provided which comprise identifying the presence of one or more genomic mutations in one or more of the genes, PTCHD1, SHANK3, NFIA, DPP6, DPP10, DYPD, GPR98, PQBP1, ZNF41 and FTSJ1.

Abstract: A method for treating an infection comprises administering a peptide in synergistic combination with an antibiotic, wherein the peptide comprises an amino acid sequence with a formula selected from the group consisting of: Bn1-Z;??(a) Bn1-Z-Bn2; and??(b) Z-Bn1??(c) wherein B is a basic amino acid residue; n1 and n2 are 1 to 6; and Z is a sequence of from about 7 to about 24 amino acid residues, said sequence having an average hydrophobicity value of at least 0.3 on the Liu-Deber scale.

Abstract: There is provided a system, methods and apparatuses for stopping the development of paroxysms based on a feedback stimulation at low frequencies for a few seconds after the detection of a seizure precursor.

Abstract: A method of treating a medulloblastoma in a mammal is provided comprising administering to the mammal a compound having the following general formula (1): wherein X is selected from the group consisting of hydrogen, hydroxyl (—OH), halogen, thio (—SH), sulfanyl (—SR), sulfinyl (—SOR), sulfonyl (—SO2R), carboxyl (—COOH), carbonyl (COOR), nitro (—NO2), nitroso (—NOR), amino (NH2), NHR, NRR1, cyano (—CN) and isocyano (—NC), wherein R and R1 are independently C1-C5 branched or unbranched lower alkyl; and Y is a 5- or 6-membered unsaturated ring, optionally substituted, or a pharmaceutically acceptable salt thereof.

Abstract: This document provides methods and materials related to genetic variations of developmental disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Autism Spectrum Disorder.

Abstract: The invention provides methods for reducing the incidence and/or severity and/or delaying the onset of heart dysfunction/failure and improving overall survival through the use of remote ischemic per-conditioning and post-conditioning.

Abstract: Embodiments herein include variants of ?-hexosaminidase that are useful for hydrolyzing GM2 ganglioside, polynucleotides encoding the same, and related methods. In various embodiments, a variant ?-hexosaminidase subunit is included wherein the variant ?-hexosaminidase subunit forms a homodimer under physiological conditions and wherein the variant ?-hexosaminidase subunit associates with GM2 activator protein to hydrolyze GM2 ganglioside. In some embodiments, an isolated or recombinant polynucleotide encoding such a variant ?-hexosaminidase subunit is included. In some embodiments, a method of treating a subject exhibiting an abnormal cellular accumulation of GM2 ganglioside is included wherein the method includes administering a composition including a protein variant of ?-hexosaminidase or a polynucleotide encoding the same. Other embodiments are included herein.

Abstract: The present invention relates to a method for diagnosis of cancer and for monitoring the progression of cancer and/or the therapeutic efficacy of an anti-cancer treatment in a sample of a subject by detecting oncogenic and cancer related proteins in microvesicles, and to the use of an agent blocking exchange of microvesicles for treating cancer.

Abstract: The present invention relates to a method for diagnosis of cancer and for monitoring the progression of cancer and/or the therapeutic efficacy of an anti-cancer treatment in a sample of a subject by detecting oncogenic proteins in microvesicles, and to the use of an agent blocking exchange of microvesicles for treating cancer.

Abstract: The present invention describes novel plant derived elastin-like peptides and peptidomimetics that may serve as functional ligands for elastin receptors and stimulate elastogenesis. The novel plant derived peptides provide an alternative (non-animal derived) source of GXXPG (SEQ ID NO. 2) containing peptides. The present invention also describes therapeutic compositions containing novel plant derived peptides or peptidomimetics useful in stimulating elastogenensis and capillary dilatation. The therapeutic compositions of the present invention that comprise novel plant derived peptides or peptidomimetics may be combined with other therapeutic agents.

Abstract: The invention contemplates, inter alia, the use of remote ischemic conditioning in the treatment of cancer, neurodegenerative disorders, and gastrointestinal disorders, among others.

Abstract: The invention contemplates, inter alia, the use of remote ischemic conditioning in the treatment of a variety of disorders.

Abstract: This document provides methods and materials related to genetic variations of developmental disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Autism Spectrum Disorder.

Abstract: This document provides methods and materials related to genetic variations of developmental disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Autism Spectrum Disorder.

Abstract: The invention provides methods for reducing traumatic injury through the use of ischemic conditioning.