Associated Papers
Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations.
Li JQ et al.
Journal of Medical Genetics, 2025
A defined tubby domain β-barrel surface region of TULP3 mediates ciliary trafficking of diverse cargoes.
Palicharla VR et al.
Molecular Biology of the Cell, 2025
Molecular and structural perspectives on protein trafficking to the primary cilium membrane.
Reddy Palicharla V et al.
Biochemical Society Transactions, 2024
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Devane J et al.
American Journal of Human Genetics, 2022
A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.
Jafari Khamirani H et al.
Frontiers in Genetics, 2022
Unearthing TULP3 Mutation as a Rare Cause of Cryptogenic Cirrhosis: A Case Report and Review of the Literature.
Shastri A et al.
Journal of Clinical and Experimental Hepatology, 0
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