Search Results - william+gahl

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Treating Kidney Disorders and Diabetic Nephropathy with N-acetyl mannosamine (ManNAc)

N-acetylmannosamine (ManNAc) is a small uncharged physiological molecule that crosses membranes readily and is the natural precursor of intracellular sialic acid synthesis. NHGRI investigators discovered that ManNAc can be used for therapeutic purposes, including treating certain kidney diseases (e.g., those involving proteinuria and hematuria), resulting...

Published: 5/9/2024 | Inventor(s): Marjan Huizing, William Gahl, Eirini (Irini) Manoli, Enriko Klootwijk

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Category(s): Application > Therapeutics

Treatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation

Abstract: Albinism (also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect in any one of a number of proteins involved in the production of melanin. Certain forms of albinism are known to be due to mutations in tyrosine...

Published: 4/8/2024 | Inventor(s): Brian Brooks, William Gahl, David Adams

Keywords(s): achromasia, achromatosis, achromia, Albinism, Nitisinone, Ocular disorders, pigmentation

Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, Application > Therapeutics, TherapeuticArea > Opthamology, TherapeuticArea > Eye / Ear / Nose / Throat

Human Fibroblast Cell Lines with PMM2 Congenital Disorder of Glycosylation for Therapeutic Development

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...

Published: 10/28/2024 | Inventor(s): Lynne Wolfe, Carlos Ferreira Lopez, William Gahl

Keywords(s): Cell, Congenital, DISORDER, Fibroblast, Glycosylatlon, Human, Lines, PMM2, VEXXXX, VPXXXX, WIXXXX, WKXXXX

Category(s): Application > Therapeutics, TherapeuticArea > Neurology, TherapeuticArea > Infectious Disease, TherapeuticArea > Cardiology, TherapeuticArea > Endocrinology, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology, TherapeuticArea > Dental, Application > Research Materials

Human Cell Lines with Mannosyl Oligosaccharide Glucosidase (MOGS) Defect for the Study and Prevention of Infection

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...

Published: 10/28/2024 | Inventor(s): Cynthia Tifft, Sergio Rosenzweig, David Adams, Lynne Wolfe, William Gahl

Keywords(s): Cell, Defect, GLYCOPROTEIN, Glycosidase, Human, Lines, Mannosyl, MOG, MOGS, MYELIN, Oligodendrocyte, Olygosaccharide, VLXXXX, VPXXXX, WIXXXX

Category(s): TherapeuticArea > Endocrinology, TherapeuticArea > Infectious Disease, TherapeuticArea > Dental, TherapeuticArea > Cardiology, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology, Application > Research Materials

Human Cell Lines with NGLY1 Mutations for the Study of NGLY1 Deficiency and Therapeutic Development

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...

Published: 10/28/2024 | Inventor(s): William Gahl, May Malicdan, Lynne Wolfe

Keywords(s): Cell, Human, Lines, Mutations, NGL, VEXXXX, WIXXXX, Y1

Category(s): Application > Research Materials, TherapeuticArea > Neurology

PMU-Embedded Analytics for Online Event Detection and Classification in Power Grids

The energy requirement of the world is increasing exponentially every year. With the power demand sites concentrated in the region with the highest population density, energy production sites must be located remotely. This isolation requires lengthy and complicated grids to be designed and manufactured to transmit power over long distances. Grid failures...

Published: 7/30/2024 | Inventor(s): Payman Dehghanian, Shiyuan Wang, Li Li

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Category(s): Technology Classifications > Industrial or Consumer Tech > Energy Infrastructure and Environment

Distributed Feedback Fiber Laser Pumped by Multimode Diode Lasers

Researchers at the University of Arizona College of Optical Sciences and Canada's Carleton University recently succeeded in fabricating high reflectivity (>99%) Fiber Bragg Gratings (FBGs) into phosphate glass fibers using UV light and a phase mask technique. With this new manufacturing technique, fiber lasers can be created as single monolithic...

Published: 4/3/2023 | Inventor(s): Nasser Peyghambarian, Axel Schülzgen, Li Li, Jacques Albert

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Category(s): Technology Classifications > Imaging & Optics, Technology Classifications > Imaging & Optics > Lasers & Other Sources

All-Fiber Multicore Fiber Laser Devices

Researchers at the University of Arizona have developed a compact, power-scalable, alignment-free fiber laser that takes a new approach to stabilizing phase-locked operation of multi-core fiber lasers by completely removing all free space optical components. This high-brightness, all-fiber laser package uses passive optical fiber spliced at both ends...

Published: 4/3/2023 | Inventor(s): Nasser Peyghambarian, Axel Schülzgen, Li Li

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Category(s): Technology Classifications > Imaging & Optics, Technology Classifications > Imaging & Optics > Fiber Optics, Technology Classifications > Imaging & Optics > Lasers & Other Sources