Search Results - niemann-pick

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Murine Model of Niemann-Pick Disease Type C
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...
Published: 10/28/2024   |   Inventor(s): Stacie Loftus, William ("Bill") Pavan
Keywords(s): C, Disease, Listed LPM Maddox as of 4/15/2015, Model, Murine, NIEMANN-PICK, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, RXXXXX, VEXXXX, VHXXXX, VNXXXX, VPXXXX, WIXXXX, WKXXXX, XEXXXX
Category(s): TherapeuticArea > Infectious Disease, TherapeuticArea > Psychiatry/Mental Health, Application > Therapeutics, TherapeuticArea > Endocrinology, TherapeuticArea > Dental, TherapeuticArea > Oncology, TherapeuticArea > Cardiology, TherapeuticArea > Neurology, Application > Research Materials, TherapeuticArea > Ophthalmology
Gene Therapy for Niemann-Pick Disease Type C
Investigators at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) are seeking collaborators to further develop gene therapy to treat Niemann-Pick Disease Type C (NPC). NPC is a rare, autosomal recessive, neurodegenerative disease. Approximately 95% of patients with NPC have mutations in NPC1, a gene implicated...
Published: 10/28/2024   |   Inventor(s): Randy Chandler, William ("Bill") Pavan, Charles Venditti
Keywords(s): Adeno-associated, C, Disease, Gene, Listed LPM Contreras as of 4/15/2015, NIEMANN-PICK, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, THERAPY, treatment, TYPE, VEXXXX, VHXXXX, viral, WJXXXX, XEXXXX
Category(s): Collaboration Sought > Collaboration, TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Neurology
Genes For Niemann-Pick Type C Disease
Niemann-Pick disease is a class of inherited lipid storage diseases. Niemann-Pick Type C disease is an autosomal recessive neurovisceral lipid storage disorder which leads to systemic and neurological abnormalities including ataxia, seizures, and loss of speech. Patients with the disease typically die as children. The biochemical hallmark of Niemann-Pick...
Published: 4/8/2024   |   Inventor(s): Danilo Tagle, Melissa Ashlock, Peter Pentchev, Jill Morris, Stacie Loftus, Jessie Gu, Eugene Carstea
Keywords(s): C, Disease, Duke DNA Project, GAXXXX, GENES, GXXXXX, IA6XXX, IAXXXX, IXXXXX, NA2BXX, NA2XXX, NAXXXX, NIEMANN-PICK, Niemann-Pick disease, NXXXXX, Pick disease of the brain, Pick's disease, TYPE, UA1XXX
Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, Application > Therapeutics, TherapeuticArea > Neurology, Application > Research Materials, Application > Diagnostics, TherapeuticArea > Rare / Neglected Diseases