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Finally, translating laboratory research findings into clinical applications faces the challenge of the translational gap

To date, eight different variants, including three frameshift mutations (37.5%), two missense mutations (25.0%), one nonsense mutation (12.5%), one copy number mutation (12.5%), and one six-base in-frame deletion (12.5%), have been reported in China in 10 patients from nine unrelated families (Table 1)

BDNF supports the survival and function of sensory and motor neurons, and its deficiency contributes to nerve degeneration

To directly probe the metabolic impact of GOT1/2 deletion in vivo, we employed MALDI imaging to visualize aspartate levels and the lactate/pyruvate ratio as an inverse proxy for cyto-solic NAD + /NADH