Thrilled to share our latest work "Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy" - a collaborative effort documenting the first cases of PPTC7 mutations in humans. 1/n
www.researchsquare.com/article/rs-8...
The mitochondrial phosphatase PPTC7 has emerged as a potent regulator of metabolism and mitophagy as its global knockout leads to perinatal lethality in mice. However, no known Mendelian diseases have...
