Results 31 to 40 of about 29,707,281 (129)

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment [version 2; peer review: 2 approved]

F1000Research, 2022
Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA.
Wendy E. Heywood, Katharina Iwan, Kevin Mills, Nina Patel, Sara E. Mole, Philippa B. Mills, Henrik Zetterberg, Amanda Heslegrave, Mina Borisova, Laura Lee, Paul Gissen, Rebecca Bower   +11 more
doaj   +1 more source

Adverse Reactions to the Orphan Drug Cerliponase Alfa in the Treatment of Neurolipofuscinosis Type 2 (CLN2)

Pharmaceuticals
Background/Objectives: Neuronal Ceroid Lipofuscinosis type 2 is a rare pathology affecting mainly the central nervous system (CNS) and retina, and is caused by variants in the gene encoding the lysosomal enzyme tripeptidyl peptidase 1.
Ilaria Ammendolia, Maria Sframeli, Emanuela Esposito, Luigi Cardia, Alberto Noto, Mariaconcetta Currò, Gioacchino Calapai, Maria De Pasquale, Carmen Mannucci, Fabrizio Calapai   +9 more
doaj   +1 more source

Tripeptidyl Peptidase II Mediates Levels of Nuclear Phosphorylated ERK1 and ERK2 [PDF]

, 2015
Tripeptidyl peptidase II (TPP2) is a serine peptidase involved in various biological processes, including antigen processing, cell growth, DNA repair, and neuropeptide mediated signaling.
Wiemhoefer, A, Kessels, Helmut W, Reits, E.A., Florea, Bogdan, van Kesteren, Ronald E., Stargardt, A, Ovaa, H., Stap, J., Raspe, Marcel A., van Kesteren, Ronald E, Stargardt, Anita, Stap, Jan, Raspe, M.A., Ovaa, Huib, Reits, Eric A, Overkleeft, H.S., Kesteren, R.E. van, van Kesteren, R.E., Florea, B., Wiemhoefer, Anne, Stargardt, A., van Kesteren, R.E.; id_orcid, Tomkinson, Birgitta, Linden, W.A., Wiemhoefer, A., Tomkinson, Birgitta,, Renner, M.C., Overkleeft, Herman S, Reits, Eric A., Overkleeft, Herman S., Kessels, Helmut W., van der Linden, Wouter A., Raspe, Marcel A, Linden, W.A. van der, Tomkinson, B., Renner, Maria C, Kessels, H.W., Renner, Maria C., van der Linden, Wouter A   +38 more
core   +1 more source

Alterations in ROS activity and lysosomal pH account for distinct patterns of macroautophagy in LINCL and JNCL fibroblasts. [PDF]

PLoS ONE, 2013
Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage disorders characterized by the accumulation of lipofuscin within lysosomes. Late infantile (LINCL) and juvenile (JNCL) are their most common forms and are caused by loss-of-function mutations in ...
José Manuel Vidal-Donet, Jaime Cárcel-Trullols, Bonaventura Casanova, Carmen Aguado, Erwin Knecht   +4 more
doaj   +1 more source

An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease

Journal of Inborn Errors of Metabolism and Screening, 2018
Neuronal ceroid lipofuscinosis type-2 (CLN2) disease is a rare, autosomal recessive, pediatric-onset, neurodegenerative lysosomal storage disease caused by mutations in the TPP1 gene.
Kathleen W. Wyrwich PhD, Angela Schulz MD, Miriam Nickel MD, Peter Slasor ScD, Temitayo Ajayi MD, David R. Jacoby MD, PhD, Alfried Kohlschütter MD   +6 more
doaj   +1 more source

RNAseq analysis of the drug jian-yan-ling (JYL) using both in vivo and in vitro models

Heliyon, 2023
Ethnopharmacological relevance: Jian-yan-ling (JYL) is a drug used in traditional Chinese medicine (TCM) prescriptions for the treatment of tumors after radiotherapy and chemotherapy, to effectively alleviate leukocytopenia.
Xiaobo Zhang, Yunliang Zhai, Dandan Zhang, Chang Che, Yayun Zhang, Quan Li, Xue Zhang, Lingrui Zhao   +7 more
doaj   +1 more source

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Orphanet Journal of Rare Diseases, 2021
Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1).
Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams   +20 more
doaj   +1 more source

The study of a new and specific proline cleaving peptidase from bovine serum [PDF]

, 2003
Prolyl oligopeptidase is a serine peptidase characterised by oligoendopeptidase activity. Definitive evidence for the discrete biological role of prolyl oligopeptidase remains unknown, though its role in the maturation and degradation of peptide hormones
Collins, Patrick
core   +1 more source

Tripeptidyl peptidase I promotes human endometrial epithelial cell adhesive capacity implying a role in receptivity

Reproductive Biology and Endocrinology, 2020
The endometrium undergoes cyclic remodelling throughout the menstrual cycle in preparation for embryo implantation which occurs in a short window during the mid-secretory phase.
Leilani L. Santos, Cheuk Kwan Ling, Evdokia Dimitriadis   +2 more
doaj   +1 more source

Recreating pathophysiology of CLN2 disease and demonstrating reversion by TPP1 gene therapy in hiPSC-derived retinal organoids and retina-on-chip

Cell Reports Medicine
Summary: Mutations in the tripeptidyl peptidase 1 (TPP1) gene lead to neuronal ceroid lipofuscinosis type 2 (CLN2), characterized by lysosomal accumulation of lipofuscins predominantly in the brain and retina.
Serena Corti, Kwi Hye Kim, Ting Chen, Adelina Botezatu, Virginia Cora, Ke Ma, Natalia Pashkovskaia, Anamaria Bernal Vergara, Denise Sperlich, Kaushambee Dave, Arianna Tolone, Ryan M. Reddinger, Christopher B. Tully, Mikayla Higgins, Alexander Kleger, Markus Breunig, Paul Lopatta, Svenja Wingerter, Madalena Cipriano, Sylvia Bolz, Marius Ueffing, Nicholas Buss, Peter Loskill, Stefan Liebau, Kevin Achberger   +24 more
doaj   +1 more source