Associated Papers
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Hathazi D et al.
Brain : a Journal of Neurology, 2021
Defective lysosome reformation during autophagy causes skeletal muscle disease.
McGrath MJ et al.
The Journal of Clinical Investigation, 2021
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Wiessner M et al.
American Journal of Human Genetics, 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Osborn DPS et al.
American Journal of Human Genetics, 2017
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