232 related articles for article (PubMed ID: 19038967)
1. Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis.
Guhaniyogi J; Sohar I; Das K; Stock AM; Lobel P
J Biol Chem; 2009 Feb; 284(6):3985-97. PubMed ID: 19038967
[TBL] [Abstract][Full Text] [Related]
2. Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.
Pal A; Kraetzner R; Gruene T; Grapp M; Schreiber K; Grønborg M; Urlaub H; Becker S; Asif AR; Gärtner J; Sheldrick GM; Steinfeld R
J Biol Chem; 2009 Feb; 284(6):3976-84. PubMed ID: 19038966
[TBL] [Abstract][Full Text] [Related]
3. Lysosomal protein thermal stability does not correlate with cellular half-life: global observations and a case study of tripeptidyl-peptidase 1.
Collier AM; Nemtsova Y; Kuber N; Banach-Petrosky W; Modak A; Sleat DE; Nanda V; Lobel P
Biochem J; 2020 Feb; 477(3):727-745. PubMed ID: 31957806
[TBL] [Abstract][Full Text] [Related]
4. A critical tryptophan and Ca2+ in activation and catalysis of TPPI, the enzyme deficient in classic late-infantile neuronal ceroid lipofuscinosis.
Kuizon S; DiMaiuta K; Walus M; Jenkins EC; Kuizon M; Kida E; Golabek AA; Espinoza DO; Pullarkat RK; Junaid MA
PLoS One; 2010 Aug; 5(8):e11929. PubMed ID: 20689811
[TBL] [Abstract][Full Text] [Related]
5. Partial genetic suppression of a loss-of-function mutant of the neuronal ceroid lipofuscinosis-associated protease TPP1 in Dictyostelium discoideum.
Phillips JE; Gomer RH
Dis Model Mech; 2015 Feb; 8(2):147-56. PubMed ID: 25540127
[TBL] [Abstract][Full Text] [Related]
6. Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I.
Golabek AA; Kida E; Walus M; Wujek P; Mehta P; Wisniewski KE
J Biol Chem; 2003 Feb; 278(9):7135-45. PubMed ID: 12488460
[TBL] [Abstract][Full Text] [Related]
7. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E; Bailey M; Schulz A; Aristorena M; Miller N; Mole SE
Hum Mutat; 2019 Nov; 40(11):1924-1938. PubMed ID: 31283065
[TBL] [Abstract][Full Text] [Related]
8. Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis.
Nemtsova Y; Wiseman JA; El-Banna M; Lobel P; Sleat DE
PLoS One; 2018; 13(2):e0192286. PubMed ID: 29408933
[TBL] [Abstract][Full Text] [Related]
9. A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.
Wang YL; Zeng ZY; Song XW; Hao ZF; Shi YW; Tang B; Chen SQ; Gao MM; Di W; Long YS; Yi YH; Liao WP
Neurogenetics; 2011 Feb; 12(1):93-5. PubMed ID: 20820830
[No Abstract] [Full Text] [Related]
10. Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
Steinfeld R; Steinke HB; Isbrandt D; Kohlschütter A; Gärtner J
Hum Mol Genet; 2004 Oct; 13(20):2483-91. PubMed ID: 15317752
[TBL] [Abstract][Full Text] [Related]
11. Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.
Chen ZR; Liu DT; Meng H; Liu L; Bian WJ; Liu XR; Zhu WW; He Y; Wang J; Tang B; Su T; Yi YH
Seizure; 2019 Jul; 69():180-185. PubMed ID: 31059981
[TBL] [Abstract][Full Text] [Related]
12. A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
Yu F; Liu XM; Chen YH; Zhang SQ; Wang K
Neurol Sci; 2015 Oct; 36(10):1917-9. PubMed ID: 26032578
[No Abstract] [Full Text] [Related]
13. Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile.
Kohan R; Muller VJ; Fietz MJ; Cismondi AI; Oller Ramírez AM; Halac IN
Hum Genet; 2008 Jun; 123(5):553. PubMed ID: 20960655
[No Abstract] [Full Text] [Related]
14. Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis.
Ezaki J; Takeda-Ezaki M; Oda K; Kominami E
Biochem Biophys Res Commun; 2000 Feb; 268(3):904-8. PubMed ID: 10679303
[TBL] [Abstract][Full Text] [Related]
15. [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
Bukina AM; Tsvetkova IV; Semiachkina AN; Il'ina ES
Vopr Med Khim; 2002; 48(6):594-8. PubMed ID: 12698559
[TBL] [Abstract][Full Text] [Related]
16. Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2.
Nakashima S; Hamada M; Kimura T; Tanifuji S; Takahashi A; Yashita D; Kakimoto Y; Matsukawa T; Ishiura H; Toda T
Intern Med; 2024 Jun; 63(12):1807-1812. PubMed ID: 37926545
[TBL] [Abstract][Full Text] [Related]
17. Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Kohan R; Carabelos MN; Xin W; Sims K; Guelbert N; Cismondi IA; Pons P; Alonso GI; Troncoso M; Witting S; Pearce DA; Dodelson de Kremer R; Oller-Ramírez AM; Noher de Halac I
Gene; 2013 Mar; 516(1):114-21. PubMed ID: 23266810
[TBL] [Abstract][Full Text] [Related]
18. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Fietz M; AlSayed M; Burke D; Cohen-Pfeffer J; Cooper JD; Dvořáková L; Giugliani R; Izzo E; Jahnová H; Lukacs Z; Mole SE; Noher de Halac I; Pearce DA; Poupetova H; Schulz A; Specchio N; Xin W; Miller N
Mol Genet Metab; 2016 Sep; 119(1-2):160-7. PubMed ID: 27553878
[TBL] [Abstract][Full Text] [Related]
19. N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I.
Wujek P; Kida E; Walus M; Wisniewski KE; Golabek AA
J Biol Chem; 2004 Mar; 279(13):12827-39. PubMed ID: 14702339
[TBL] [Abstract][Full Text] [Related]
20. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Sun Y; Almomani R; Breedveld GJ; Santen GW; Aten E; Lefeber DJ; Hoff JI; Brusse E; Verheijen FW; Verdijk RM; Kriek M; Oostra B; Breuning MH; Losekoot M; den Dunnen JT; van de Warrenburg BP; Maat-Kievit AJ
Hum Mutat; 2013 May; 34(5):706-13. PubMed ID: 23418007
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]