Publications by authors named "Paul Crespin"
Article Synopsis
- Impaired metabolism of glucose and fatty acids in skeletal muscles can lead to serious muscle conditions like myopathy and rhabdomyolysis, especially in children with LPIN1 gene mutations.
- Lipin1 deficiency in mouse models causes myopathy with notable lipid accumulation and metabolic imbalances, indicating issues in fatty acid synthesis and oxidation.
- Treatments with TUDCA and bezafibrate show promise in improving muscle health and strength in cases of lipin1 deficiency by addressing underlying cellular stress.
