Madeline C Pelz, Kelsey R Allen, Joshua B Tenenbaum, Laura E Schulz
Foundations of intuitive power analyses in children and adults
Nature human behaviour
lysosomal acid sphingomyelinase asm critical enzyme lipid metabolism encoded smpd1 gene plays crucial role sphingomyelin hydrolysis lysosomes asm deficiency leads acid sphingomyelinase deficiency rare genetic disorder diverse clinical manifestations protein found mutated diseases employed structurebased framework comprehensively understand functional implications asm variants integrating pathogenicity predictions molecular insights derived molecular dynamics simulation lysosomal membrane environment analysis encompassing 400 variants establishes structural atlas missense variants lysosomal asm associating mechanistic indicators pathogenic potential study highlights variants influence structural stability exert local longrange effects functional sites validate predictions compared available experimental data residual catalytic activity 135 asm variants notably findings also suggest applications resulting data identifying cases suited enzyme replacement therapy comprehensive approach enhances understanding asm variants provides valuable insights potential therapeutic interventions