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Congenital disorders of glycosylation (CDGs) are a group of inborn errors characterized by abnormalities in the process of glycosylation of biomolecules. Although more than 100 different CDGs have been reported, only one has been thoroughly described, namely NGLY1 deficiency or NGLY1-CDG. NGLY1 encodes N-glycanase 1, an enzyme involved in the cytosolic degradation of misfolded glycoproteins and other glycoproteins bound for degradation.

Many agencies, universities, zoos, and research labs need to collect blood from bats. Currently, disease surveillance in bats has high costs and requires considerable time and a high degree of skill for blood collection. In addition, current collection techniques for non-sedated bats typically require two people, with one restraining the bat while the other collects the blood sample.

Recent studies have identified the G-protein-coupled receptor (GPCR) for insulin-like 3 peptide (INSL3), relaxin family peptide receptor 2 (RXFP2), as an attractive target for the treatment of bone diseases such as osteoporosis and rare bone diseases such as osteogenesis imperfecta. Currently, the most effective available treatment for osteoporosis is an expensive hormone therapy that requires daily injections. A stable, orally deliverable drug is a much more desirable alternative. Our RXFP2 agonists perform as well as the natural ligand INSL3 in cellular assays.

Congenital disorders of glycosylation (CDGs) are inherited disorders of abnormal protein glycosylation that affect multiple organ systems. More than 100 different CDGs have been described, affecting protein and lipid glycosylation. NHGRI investigators have been able to isolate fibroblasts from patients with PMM2 (phosphomannomutase)-CDG, also known at CDG type Ia, which is an inherited, broad-spectrum disorder with developmental and neurological abnormalities.

This technology includes human cell lines from patients who have genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase, causing the rare congenital disorder of glycosylation type IIb, also known as MOGS-CDG. This defects appears to impair the ability of viruses to infect a second round of cells, which can be used to study and prevent infections. This is likely related to impaired viral replication and cellular entry. This finding has implications for Ebola and Zika, as well as other viral infections.

This technology includes a transgenic mouse model of Niemann-Pick Disease Type C (NPC), which is a rare neurodegenerative disorder, characterized by intracellular accumulation of cholesterol and gangliosides. The mouse strain, Tg(Npcl), expresses wild-type NPC1 gene under the control of the prion promoter. When combined with the NPC deficient mouse model, BALB/c npcnih/nih, also known as Npcl-/-, the transgene insertion allele rescues life expectancy of Npc1-/- mice. Npc1-/- mouse have reduced life expectancy and die around 8 weeks, making it a difficult model to be utilized.

This technology includes a group of radioligands that label inflammatory cells specifically, accurately, and across different genotypes and can be detected using Positron Emission Tomography (PET). The radioligands target the Translocator protein 18 kDa (TSPO) receptor which is present on the outer mitochondrial membrane and is involved in the production of steroids. Current TSPO radioligands either lack specificity or have highly variable inter-subject sensitivities due to TSPO genotypic differences.

This technology includes transgenic mice to be used in the study of melanocyte stem cells (MSCs) for utilization in regenerative medicine. Using the melanocyte system as a model, we investigated establishment of MSCs in the hair bulge - the stem cell compartment of the hair. During embryogenesis, all melanoblasts express SOX10, but this expression is downregulated during hair follicle morphogenesis and MSC differentiation. To further study the role of SOX10, we generated transgenic mice overexpressing SOX10 in melanoblasts.

This invention relates to a diagnostic kit for assessing exposure to or infection by a koala retrovirus. The kit consists of specific primers and probes for the detection of three distinct subtypes of infectious koala retrovirus and may be useful in various species, including humans, primates, and koalas.

This invention relates to a novel gammaretroviral vector packaging cell line and a method of producing gammaretroviral vectors suitable for gene therapy. The described vectors may contain the gibbon ape leukemia virus (GALV) envelope with a CD11D8 epitope tag enabling their purification on a monoclonal antibody conjugated column. These vectors have several advantages over existing systems, including a broader host range, higher infectivity, and lower potential for replication.