Associated Papers
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 19R03644.xls › SNVIndel
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E et al.
Human Mutation, 2019
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin.
Mathavarajah S et al.
Cells, 2018
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
Walus M et al.
Human Mutation, 2010
Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.
Pal A et al.
The Journal of Biological Chemistry, 2009
Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis.
Guhaniyogi J et al.
The Journal of Biological Chemistry, 2009
19038967 (PubMed )
Supplement: M806943200_1.pdf
Tripeptidyl-peptidase I in health and disease.
Golabek AA et al.
Biological Chemistry, 2006
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
Sleat DE et al.
American Journal of Human Genetics, 1999
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE et al.
Human Mutation, 1999
Select a paper to view details