Search Results - autosomal+recessive+disorder

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Recombinant Virus Vectors for the Treatment of Glycogen Storage Disease type Ib (GSD-Ib)

Abstract: Glycogen storage disease type Ib (GSD-Ib) is an autosomal recessive disorder caused by deficiencies in glucose-6-phosphate transporter (G6PT), a ubiquitously expressed endoplasmic reticulum (ER) protein that translocates G6P from the cytoplasm into the ER lumen. Inside the ER, G6P is hydrolyzed to glucose and phosphate by either the liver/kidney/intestine-restricted...

Published: 4/8/2024 | Inventor(s): Janice Chou

Keywords(s): autosomal recessive disorder, Chou, G6PT, GENE THERAPY, glucose homeostasis, Glycogen storage disease type Ib, GSD-Ib, hepatocellular adenoma, metabolic and immune disorders, myeloid dysfunction, NEUTROPENIA, NICHD

Category(s): Collaboration Sought > Collaboration, Application > Therapeutics, Collaboration Sought > Licensing, TherapeuticArea > Endocrinology

Substrate Reduction Therapy for Smith-Lemli-Opitz Syndrome and Related Disorders

Abstract: Smith-Lemli-Opitz Syndrome (SLOS) is a rare autosomal recessive genetic disorder affecting the final step of cholesterol biosynthesis. SLOS is characterized by slow growth before and after birth, mental retardation, and multiple congenital disabilities. There is no FDA approved treatment for SLOS. Patients may benefit moderately from palliative...

Published: 4/8/2024 | Inventor(s): Forbes Porter, Francis Platt, Emyr Lloyd-Evans, Jin Zhi Zhang

Keywords(s): autosomal recessive disorder, Cholesterol Biosynthesis, Class II Amphiphile 7-dehydrocholesterol (7-DHC), Inhibitor of Sphingolipid Biosynthesis, NICHD, Niemann-Pick type C Disease, Porter, SLOS, Smith-Lemli-Opitz Syndrome

Category(s): Collaboration Sought > Licensing, Application > Therapeutics, TherapeuticArea > Endocrinology