Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1ORF194 Gene Improved CMT-like Neuropathy in C1ORF194-/- Mice

Research Report on the Improvement of CMT-like Neuropathy via AAV9 Vector-based C1ORF194 Gene Therapy Background and Research Motivation Charcot-Marie-Tooth disease (CMT) is a rare group of genetically heterogeneous neuromuscular disorders characterized by progressive muscle weakness and atrophy, along with sensory loss. Despite extensive preclinic...

Serine and Glycine Physiology Reversibly Modulate Retinal and Peripheral Nerve Function

Reversible Regulation of Retinal and Peripheral Nerve Function: Physiological Study of Serine and Glycine Background and Research Motivation Macular Telangiectasia Type 2 (Mactel) is an age-related retinal disease characterized by central vision loss. The molecular etiology of this disease is complex and is primarily associated with the metabolism ...

A Missense Variant in AIFM1 Caused Mitochondrial Dysfunction and Intolerance to Riboflavin Deficiency

Missense Mutation in AIFM1 Gene Leads to Mitochondrial Dysfunction and Riboflavin Deficiency Intolerance Research Background Mitochondria are double-membrane organelles found in eukaryotic cells with nuclei, primarily producing adenosine triphosphate (ATP) through oxidative phosphorylation to provide cellular energy. Mitochondria have their own gen...

Gene Expression Alterations in the Spinal Cord of SIV-Infected Macaques on Antiretroviral Therapy

NARP Laboratory Research Reveals the Impact of SIV Infection on Spinal Cord Gene Expression Background Despite the implementation of antiretroviral therapy (ART), HIV-associated peripheral neuropathy (HIV-DSP) remains one of the most common neurological manifestations of HIV infection. Clinical symptoms of HIV-DSP include weakness, numbness, burnin...