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Items: 1 to 20 of 80

1.
Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model
Kevin Knoernschild, Hans J. Johnson, Kimberly E. Schroeder, Vicki J. Swier, Katherine A. White, Takashi S. Sato, Christopher S. Rogers, Jill M. Weimer, Jessica C. Sieren
Sci Rep. 2023; 13: 5146. Published online 2023 Mar 29. doi: 10.1038/s41598-023-32071-z
PMCID:
PMC10060411
AbstractArticlePDF–2.4M
2.
Tripeptidyl Peptidase 1 Regulates Human Trophoblast Cell Proliferation Implying a Role in Placentation
Wei Zhou, Evdokia Dimitriadis
Biomed Res Int. 2022; 2022: 6856768. Published online 2022 Sep 12. doi: 10.1155/2022/6856768
PMCID:
PMC9485709
AbstractArticlePDF–1.6M
3.
Tripeptidyl peptidase I promotes human endometrial epithelial cell adhesive capacity implying a role in receptivity
Leilani L. Santos, Cheuk Kwan Ling, Evdokia Dimitriadis
Reprod Biol Endocrinol. 2020; 18: 124. Published online 2020 Dec 14. doi: 10.1186/s12958-020-00682-0
PMCID:
PMC7734757
AbstractArticlePDF–1.9M
4.
Symmetric Age-association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease
Kyle D Kovacs, Samir Patel, Anton Orlin, Keunpyo Kim, Sherri Van Everen, Therese Conner, Dolan Sondhi, Stephen M Kaminsky, Donald J D’Amico, Ronald G Crystal, Szilárd Kiss
Ophthalmol Retina. Author manuscript; available in PMC 2021 Jul 1.
Published in final edited form as: Ophthalmol Retina. 2020 Jul; 4(7): 728–736. Published online 2020 Jan 22. doi: 10.1016/j.oret.2020.01.011
PMCID:
PMC7354207
AbstractArticlePDF–418K
5.
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease
Emily Gardner, Mitch Bailey, Angela Schulz, Mikel Aristorena, Nicole Miller, Sara E. Mole
Hum Mutat. 2019 Nov; 40(11): 1924–1938. Published online 2019 Jul 26. doi: 10.1002/humu.23860
PMCID:
PMC6851559
AbstractArticlePDF–1.2M
6.
Lysosomal enzyme tripeptidyl peptidase 1 destabilizes fibrillar Aβ by multiple endoproteolytic cleavages within the β-sheet domain
Santiago Solé-Domènech, Ana V. Rojas, Gia G. Maisuradze, Harold A. Scheraga, Peter Lobel, Frederick R. Maxfield
Proc Natl Acad Sci U S A. 2018 Feb 13; 115(7): 1493–1498. Published online 2018 Jan 29. doi: 10.1073/pnas.1719808115
PMCID:
PMC5816203
AbstractArticlePDF–1.6M
7.
Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression
M L Katz, G C Johnson, S B Leach, B G Williamson, J R Coates, R E H Whiting, D P Vansteenkiste, M S Whitney
Gene Ther. 2017 Apr; 24(4): 215–223. Published online 2017 Feb 2. doi: 10.1038/gt.2017.4
PMCID:
PMC5398942
AbstractArticlePDF–1.9M
8.
Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America
Romina Kohan, María Noelia Carabelos, Winnie Xin, Katherine Sims, Norberto Guelbert, Inés Adriana Cismondi, Patricia Pons, Graciela Irene Alonso, Mónica Troncoso, Scarlet Witting, David A. Pearce, Raquel Dodelson de Kremer, Ana María Oller-Ramírez, Inés Noher de Halac
Gene. Author manuscript; available in PMC 2014 Mar 1.
Published in final edited form as: Gene. 2013 Mar 1; 516(1): 10.1016/j.gene.2012.12.058. Published online 2012 Dec 22. doi: 10.1016/j.gene.2012.12.058
PMCID:
PMC3855401
AbstractArticlePDF–584K
9.
Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations
Mark M. Souweidane, Justin F. Fraser, Lisa M. Arkin, Dolan Sondhi, Neil R. Hackett, Stephen M. KaMinSky, Linda Heier, Barry E. Kosofsky, Stefan Worgall, Ronald g. Crystal, Michael g. Kaplitt
J Neurosurg Pediatr. Author manuscript; available in PMC 2013 Sep 5.
Published in final edited form as: J Neurosurg Pediatr. 2010 Aug; 6(2): 115–122. doi: 10.3171/2010.4.PEDS09507
PMCID:
PMC3763702
AbstractArticlePDF–2.1M
10.
Different molecular mechanisms involved in spontaneous and oxidative stress-induced mitochondrial fragmentation in tripeptidyl peptidase-1 (TPP-1)-deficient fibroblasts
Guillaume Van Beersel, Eliane Tihon, Stéphane Demine, Isabelle Hamer, Michel Jadot, Thierry Arnould
Biosci Rep. 2013; 33(2): e00023. Prepublished online 2012 Dec 18. Published online 2013 Feb 7. doi: 10.1042/BSR20120104
PMCID:
PMC3566540
AbstractArticlePDF–1001K
11.
A Critical Tryptophan and Ca2+ in Activation and Catalysis of TPPI, the Enzyme Deficient in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis
Salomon Kuizon, Kathleen DiMaiuta, Marius Walus, Edmund C. Jenkins, Jr, Marisol Kuizon, Elizabeth Kida, Adam A. Golabek, Daniel O. Espinoza, Raju K. Pullarkat, Mohammed A. Junaid
PLoS One. 2010; 5(8): e11929. Published online 2010 Aug 3. doi: 10.1371/journal.pone.0011929
PMCID:
PMC2914745
AbstractArticlePDF–3.7M
12.
Crystal Structure and Autoactivation Pathway of the Precursor Form of Human Tripeptidyl-peptidase 1, the Enzyme Deficient in Late Infantile Ceroid Lipofuscinosis
Jayita Guhaniyogi, Istvan Sohar, Kalyan Das, Ann M. Stock, Peter Lobel
J Biol Chem. 2009 Feb 6; 284(6): 3985–3997. doi: 10.1074/jbc.M806943200
PMCID:
PMC2635056
AbstractArticlePDF–884K
13.
Prosegment of Tripeptidyl Peptidase I Is a Potent, Slow-binding Inhibitor of Its Cognate Enzyme
Adam A. Golabek, Natalia Dolzhanskaya, Marius Walus, Krystyna E. Wisniewski, Elizabeth Kida
J Biol Chem. 2008 Jun 13; 283(24): 16497–16504. doi: 10.1074/jbc.M800458200
PMCID:
PMC2423245
AbstractArticlePDF–369K
14.
A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15
G Breedveld, B van Wetten, G D te Raa, E Brusse, J C van Swieten, B Oostra, J Maat-Kievit
J Med Genet. 2004 Nov; 41(11): 858–866. doi: 10.1136/jmg.2004.019232
PMCID:
PMC1735612
SummaryPDF–254K
15.
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
W Ju, R Zhong, S Moore, D Moroziewicz, J Currie, P Parfrey, W Brown, N Zhong
J Med Genet. 2002 Nov; 39(11): 822–825. doi: 10.1136/jmg.39.11.822
PMCID:
PMC1735024
SummaryPDF–99K
16.
Structure of active human telomerase with telomere shelterin protein TPP1
Baocheng Liu, Yao He, Yaqiang Wang, He Song, Z. Hong Zhou, Juli Feigon
Nature. Author manuscript; available in PMC 2023 Feb 10.
Published in final edited form as: Nature. 2022 Apr; 604(7906): 578–583. Published online 2022 Apr 13. doi: 10.1038/s41586-022-04582-8
PMCID:
PMC9912816
AbstractArticlePDF–3.6M
17.
Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length
Gabrielle Henslee, Christopher L. Williams, Pengfei Liu, Alison A. Bertuch
Cold Spring Harb Mol Case Stud. 2021 Feb; 7(1): a005454. doi: 10.1101/mcs.a005454
PMCID:
PMC7903889
AbstractArticlePDF–9.5M
18.
Telomere length set point regulation in human pluripotent stem cells critically depends on the shelterin protein TPP1
John M. Boyle, Kelsey M. Hennick, Samuel G. Regalado, Jacob M. Vogan, Xiaozhu Zhang, Kathleen Collins, Dirk Hockemeyer
Mol Biol Cell. 2020 Nov 1; 31(23): 2583–2596. doi: 10.1091/mbc.E19-08-0447
PMCID:
PMC7851873
AbstractArticlePDF–2.7M
19.
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project
Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti, Duccio Maria Cordelli, Pasquale Striano
Ital J Pediatr. 2020; 46: 92. Published online 2020 Jul 6. doi: 10.1186/s13052-020-00860-1
PMCID:
PMC7339579
AbstractArticlePDF–1.2M
20.
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients
Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Sanjiv Mehta, Sheela Nampoothiri, Arpita Thakker, Vivek Jain, Raju Shah, Frenny Sheth
BMC Neurol. 2018; 18: 203. Published online 2018 Dec 12. doi: 10.1186/s12883-018-1206-1
PMCID:
PMC6292089
AbstractArticlePDF–2.2M

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