Abstract: Described are heat stable protein-phospholipid concentrates within lung surfactant therapeutic compositions for the treatment of respiratory diseases in premature infants, children and adults. The concentrates can be suitable for localized delivery with improved transport to and spreadability within the lung and other tissues resulting in greater efficacy and efficiency of treatment.

Abstract: Substituted pyrazolopyrimidines and dihydropyrazolopyrimidines and related compounds, their methods of manufacture, compositions containing these compounds, and methods of use of these compounds in treating lysosomal storage disorders such as Gaucher disease are described herein. The compounds are of general Formula (I) in which variables R1-R7 and X are described in the application.

Abstract: Substituted pyrazolopyrimidines and dihydropyrazolopyrimidines and related compounds, their methods of manufacture, compositions containing these compounds, and methods of use of these compounds in treating lysosomal storage disorders such as Gaucher disease are described herein. The compounds are of general Formula (I) in which variables R1-R7 and X are described in the application.

Abstract: Substituted pyrazolopyrimidines and dihydropyrazolopyrimidines and related compounds, their methods of manufacture, compositions containing these compounds, and methods of use of these compounds in treating lysosomal storage disorders such as Gaucher disease are described herein. The compounds are of general Formula (I) in which variables R1-R7 and X are described in the application.

Abstract: Substituted pyrazolopyrimidines and dihydropyrazolopyrimidines and related compounds, their methods of manufacture, compositions containing these compounds, and methods of use of these compounds in treating lysosomal storage disorders such as Gaucher disease are described herein. The compounds are of general Formula (I) in which variables R1-R7 and X are described in the application.

Abstract: Compounds of Formula (I) and the pharmaceutically acceptable salts thereof are disclosed. The variables. R1-R13, m, n, o, and p are disclosed herein. The compounds are useful for treating Gaucher disease and inhibiting the onset of Gaucher disease symptoms in a patient having a GBA gene mutation and for treating Parkinson's disease. Pharmaceutical compositions containing compounds of Formula (I) and methods of treatment comprising administering compounds of Formula (I) are also disclosed.

Abstract: Substituted pyrazolopyrimidines and dihydropyrazolopyrimidines and related compounds, their methods of manufacture, compositions containing these compounds, and methods of use of these compounds in treating lysosomal storage disorders such as Gaucher disease are described herein. The compounds are of general Formula (I) in which variables R1-R7 and X are described in the application.

Abstract: Compounds of Formula (I) and the pharmaceutically acceptable salts thereof are disclosed. The variables. R1-R13, m, n, o, and p are disclosed herein. The compounds are useful for treating Gaucher disease and inhibiting the onset of Gaucher disease symptoms in a patient having a GBA gene mutation and for treating Parkinson's disease. Pharmaceutical compositions containing compounds of Formula (I) and methods of treatment comprising administering compounds of Formula (I) are also disclosed.

Abstract: Substituted pyrazolopyrimidines and dihydropyrazolopyrimidines and related compounds, their methods of manufacture, compositions containing these compounds, and methods of use of these compounds in treating lysosomal storage disorders such as Gaucher disease are described herein. The compounds are of general Formula (I) in which variables R1-R7 and X are described in the application.

Abstract: Methods are provided for evaluating a stroke, for example for determining whether a subject has had an ischemic stroke, determining the severity or likely neurological recovery of a subject who has had an ischemic stroke, and determining a treatment regimen for a subject who has had an ischemic stroke, as are arrays and kits that can be used to practice the methods. In particular examples, the method includes screening for expression in ischemic stroke related genes (or proteins), such as white blood cell activation and differentiation genes (or proteins), genes (or proteins) related to hypoxia, genes (or proteins) involved in vascular repair, and genes (or proteins) related to a specific peripheral blood mononuclear cell (PBMC) response to the altered cerebral microenvironment. Also provided are methods of identifying one or more agents that alter the activity (such as the expression) of an ischemic stroke-related molecule.

Abstract: Methods are provided for evaluating a stroke, for example for determining whether a subject has had an ischemic stroke, determining the severity or likely neurological recovery of a subject who has had an ischemic stroke, and determining a treatment regimen for a subject who has had an ischemic stroke, as are arrays and kits that can be used to practice the methods. In particular examples, the method includes screening for expression in ischemic stroke related genes (or proteins), such as white blood cell activation and differentiation genes (or proteins), genes (or proteins) related to hypoxia, genes (or proteins) involved in vascular repair, and genes (or proteins) related to a specific peripheral blood mononuclear cell (PBMC) response to the altered cerebral microenvironment. Also provided are methods of identifying one or more agents that alter the activity (such as the expression) of an ischemic stroke-related molecule.

Abstract: Methods are provided for evaluating a stroke, for example for determining whether a subject has had a hemorrhagic stroke, determining the severity or likely neurological recovery of a subject who has had a hemorrhagic stroke, and determining a treatment regimen for a subject who has had a hemorrhagic stroke, as are arrays and kits that can be used to practice the methods. In particular examples, the method includes screening for expression of hemorrhagic stroke related genes (or proteins), such as genes (or proteins) involved in suppression of the immune response, genes (or proteins) involved in vascular repair, genes (or proteins) involved in the acute inflammatory response, genes (or proteins) involved in cell adhesion, genes (or proteins) involved in hypoxia, genes (or proteins) involved in signal transduction, and genes (or proteins) involved in the response to the altered cerebral microenvironment. Arrays and kits are provided that can be used in the disclosed methods.

Abstract: The present invention relates to identification of a gene that is inactivated in a mucolipidosis condition. In particular, the invention concerns mutations that disrupt a mucolipin, preferably MCOLN1, in mucolipidosis IV. Recombinant nucleic acids encoding mutant forms of MCOLN1, oligonucleotides specific for such mutations, and diagnostic and therapeutic applications related to these discoveries, are also contemplated.

Abstract: Methods are provided for evaluating a stroke, for example for determining whether a subject has had an ischemic stroke, determining the severity or likely neurological recovery of a subject who has had an ischemic stroke, and determining a treatment regimen for a subject who has had an ischemic stroke, as are arrays and kits that can be used to practice the methods. In particular examples, the method includes screening for expression in ischemic stroke related genes (or proteins), such as white blood cell activation and differentiation genes (or proteins), genes (or proteins) related to hypoxia, genes (or proteins) involved in vascular repair, and genes (or proteins) related to a specific peripheral blood mononuclear cell (PBMC) response to the altered cerebral microenvironment. Also provided are methods of identifying one or more agents that alter the activity (such as the expression) of an ischemic stroke-related molecule.

Abstract: The present invention relates to identification of a gene that is inactivated in a mucolipidosis condition. In particular, the invention concerns mutations that disrupt a mucolipin, preferably MCOLN1, in mucolipidosis IV. Recombinant nucleic acids encoding mutant forms of MCOLN1, oligonucleotides specific for such mutations, and diagnostic and therapeutic applications related to these discoveries, are also contemplated.