Associated Papers
The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.
McGrath MJ et al.
Febs Letters, 2025
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
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.
Yousaf S et al.
Clinical Genetics, 2018
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
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