Associated Papers
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
Bodenbender JP et al.
International Journal of Molecular Sciences, 2023
A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa.
Woodard DR et al.
Molecular Vision, 2021
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
The Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses.
Wahl S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
TULP1 Missense Mutations Induces the Endoplasmic Reticulum Unfolded Protein Response Stress Complex (ER-UPR).
Lobo GP et al.
Advances in Experimental Medicine and Biology, 2016
Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration.
Lobo GP et al.
Plos One, 2016
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
Ullah I et al.
Molecular Vision, 2016
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
Ajmal M et al.
Molecular Vision, 2012
A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.
Abbasi AH et al.
Molecular Vision, 2008
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
Mataftsi A et al.
Investigative Ophthalmology & Visual Science, 2007
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.
Hagstrom SA et al.
Nature Genetics, 1998
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