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Abstract
Severe autophagy defects are reported in numerous congenital disorders of striated muscle and inherited neuropathies.
- Genetic mutations linked to lower motor neuron diseases, skeletal muscle dystrophies, and (cardio)myopathies may disrupt autophagy pathways.
- The degradation of damaged proteins and organelles is essential for maintaining cell function under stress.
- Identifying defective steps in the autophagy pathway could lead to new pharmacological targets for treating related diseases.
- Current limitations exist in developing drugs that modulate autophagy effectively.
- Novel technologies may support advancements in creating better autophagy modulators for rare diseases.
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