Abstract: Compositions and methods for screening for a disease or a disorder associated with a deficiency in frataxin in a subject using biomarkers for diseases or disorders associated with a deficiency in frataxin are disclosed. The compositions and methods include determining the acetylation status of mito-chondrial proteins. Also disclosed are methods of detecting progression of a disease or a disorder associated with a deficiency in frataxin in a subject and methods of monitoring effectiveness of a therapy for diseases or disorders associated with a deficiency in frataxin.

Abstract: Compositions and methods for screening for a disease or a disorder associated with a deficiency in frataxin in a subject using biomarkers for diseases or disorders associated with a deficiency in frataxin are disclosed. The compositions and methods include determining the acetylation status of mitochondrial proteins. Also disclosed are methods of detecting progression of a disease or a disorder associated with a deficiency in frataxin in a subject and methods of monitoring effectiveness of a therapy for diseases or disorders associated with a deficiency in frataxin.

Abstract: The present disclosure relates generally to fusion proteins including gigaxonin coupled to a cell penetrant peptide. These fusion proteins can be used to treat GAN in a subject in need thereof. Administration of the fusion proteins allows for control of at least one of Galectin-1 (GAL-1) levels and phosphorylated vimentin protein levels, thereby mediating aggregation of vimentin and the formation of vimentin-free zones in cells.

Abstract: A conjugate comprises: (a) a mitochondrial membrane-permeant peptide; (b) an active agent or compound of interest such as a detectable group or mitochondrial protein or peptide; and (c) a mitochondrial targeting sequence linking said mitochondrial membrane-permeant peptide and said active mitochondrial protein or peptide. The targeting sequence is one which is cleaved within the mitochondrial matrix, and not cleaved within the cellular cytoplasm, of a target cell into which said compound is delivered. Methods of use of such compounds are also described.

Abstract: Compositions and methods for screening for a disease or a disorder associated with a deficiency in frataxin in a subject using biomarkers for diseases or disorders associated with a deficiency in frataxin are disclosed. The compositions and methods include determining the acetylation status of mito-chondrial proteins. Also disclosed are methods of detecting progression of a disease or a disorder associated with a deficiency in frataxin in a subject and methods of monitoring effectiveness of a therapy for diseases or disorders associated with a deficiency in frataxin.

Abstract: The present disclosure relates generally to fusion proteins including gigaxonin coupled to a cell penetrant peptide. These fusion proteins can be used to treat GAN in a subject in need thereof. Administration of the fusion proteins allows for control of at least one of Galectin-1 (GAL-1) levels and phosphorylated vimentin protein levels, thereby mediating aggregation of vimentin and the formation of vimentin-free zones in cells.

Abstract: A conjugate comprises: (a) a mitochondrial membrane-permeant peptide; (b) an active agent or compound of interest such as a detectable group or mitochondrial protein or peptide; and (c) a mitochondrial targeting sequence linking said mitochondrial membrane-permeant peptide and said active mitochondrial protein or peptide. The targeting sequence is one which is cleaved within the mitochondrial matrix, and not cleaved within the cellular cytoplasm, of a target cell into which said compound is delivered. Methods of use of such compounds are also described.

Abstract: A conjugate comprises: (a) a mitochondrial membrane-permeant peptide; (b) an active agent or compound of interest such as a detectable group or mitochondrial protein or peptide; and (c) a mitochondrial targeting sequence linking said mitochondrial membrane-permeant peptide and said active mitochondrial protein or peptide. The targeting sequence is one which is cleaved within the mitochondrial matrix, and not cleaved within the cellular cytoplasm, of a target cell into which said compound is delivered. Methods of use of such compounds are also described.

Abstract: A conjugate comprises: (a) a mitochondrial membrane-permeant peptide; (b) an active agent or compound of interest such as a detectable group or mitochondrial protein or peptide; and (c) a mitochondrial targeting sequence linking said mitochondrial membrane-permeant peptide and said active mitochondrial protein or peptide. The targeting sequence is one which is cleaved within the mitochondrial matrix, and not cleaved within the cellular cytoplasm, of a target cell into which said compound is delivered. Methods of use of such compounds are also described.

Abstract: A conjugate comprises: (a) a mitochondrial membrane-permeant peptide; (b) an active agent or compound of interest such as a detectable group or mitochondrial protein or peptide; and (c) a mitochondrial targeting sequence linking said mitochondrial membrane-permeant peptide and said active mitochondrial protein or peptide. The targeting sequence is one which is cleaved within the mitochondrial matrix, and not cleaved within the cellular cytoplasm, of a target cell into which said compound is delivered. Methods of use of such compounds are also described.