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Select item 111028111.

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease

Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, André Pessoa, Bibiana Mello de Oliveira

Arq Neuropsiquiatr. 2024 May; 82(5): 1–8. Published online 2024 May 19. doi: 10.1055/s-0044-1786854

PMCID:: PMC11102811

Abstract Article PDF–391K

Select item 100604112.

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

Abstract Article PDF–2.4M

Select item 94857093.

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

Abstract Article PDF–1.6M

Select item 77347574.

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

Abstract Article PDF–1.9M

Select item 73542075.

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

Abstract Article PDF–418K

Select item 68515596.

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

Abstract Article PDF–1.2M

Select item 58162037.

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

Abstract Article PDF–1.6M

Select item 53989428.

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

Abstract Article PDF–1.9M

Select item 38554019.

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

Abstract Article PDF–584K

Select item 376370210.

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

Abstract Article PDF–2.1M

Select item 356654011.

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

Abstract Article PDF–1001K

Select item 291474512.

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