Search for a command to run...
Articles tagged with #mitochondrial-dysfunction
1. Introduction Prader–Willi Syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of paternally inherited genes in the 15q11–q13 chromosomal region. Clinically, it is characterized by neonatal hypotonia, hyperphagia, obesit...
Introduction Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive degeneration of upper and lower motor neurons. Despite extensive research, the etiology of ALS remains multifactorial and incomplet...
Introduction Autism Spectrum Disorder (ASD) is a neurodevelopmental condition defined by difficulties in communication, social interaction, and the presence of repetitive behaviors. While ASD's exact origins remain complex and multifaceted, growing r...
Introduction Rapid industrialization and urban development have significantly increased environmental pollution levels, particularly in urban areas. Air pollution is a complex mixture of gases (like ozone, nitrogen dioxide, carbon monoxide) and parti...
SLC6A1 encodes the gamma-aminobutyric acid (GABA) transporter type 1 (GAT1), a crucial component of inhibitory neurotransmission. Pathogenic variants in SLC6A1 lead to neurological disorders, primarily epilepsy, developmental delay, and neuropsychiat...
Introduction Spinal Muscular Atrophy (SMA) is a severe neurodegenerative disorder that predominantly affects motor neurons, resulting in progressive muscle weakness and atrophy. The condition is caused by mutations in the survival motor neuron 1 (SMN...
