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

Keywords(s):

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: 7/25/2024 | 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: 7/25/2024 | 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: 7/25/2024 | 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