Results 41 to 50 of about 2,448 (132)

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

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

Gemfibrozil and Fenofibrate, Food and Drug Administration-approved Lipid-lowering Drugs, Up-regulate Tripeptidyl-peptidase 1 in Brain Cells via Peroxisome Proliferator-activated Receptor α [PDF]

Journal of Biological Chemistry, 2012
The classical late infantile neuronal ceroid lipofuscinosis (LINCLs) is an autosomal recessive disease, where the defective gene is Cln2, encoding tripeptidyl-peptidase I (TPP1). At the molecular level, LINCL is caused by accumulation of autofluorescent storage materials in neurons and other cell types.
Arunava Ghosh, Grant T. Corbett, Frank J. Gonzalez, Kalipada Pahan   +3 more
openaire   +2 more sources

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

Tandem Mass Spectrometry Assays of Palmitoyl Protein Thioesterase 1 and Tripeptidyl Peptidase Activity in Dried Blood Spots for the Detection of Neuronal Ceroid Lipofuscinoses in Newborns [PDF]

Analytical Chemistry, 2014
We report new substrates for quantitative enzyme activity measurements of human palmitoyl protein thioesterase (PPT1) and tripeptidyl peptidase (TPP1) in dried blood spots from newborns using tandem mass spectrometry. Deficiencies in these enzyme activities due to inborn errors of metabolism cause neuronal ceroid lipofuscinoses.
Barcenas, Mariana, Xue, Chang, Marushchak-Vlaskin, Tatyana, Scott, C. Ronald, Gelb, Michael H., Tureček, František   +5 more
openaire   +2 more sources

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

Global Brain Transcriptome Analysis of a Neuronal Ceroid Lipofuscinoses Mouse Model

ASN Neuro, 2019
In humans, homozygous mutations in the TPP1 gene results in loss of tripeptidyl peptidase 1 (TPP1) enzymatic activity, leading to late infantile neuronal ceroid lipofuscinoses disease.
Miriam S. Domowicz, Wen-Ching Chan, Patricia Claudio-Vázquez, Judith G. Henry, Christopher B. Ware, Jorge Andrade, Glyn Dawson, Nancy B. Schwartz   +7 more
doaj   +1 more source

Supplementary Figure 1 from Tripeptidyl Peptidase II Plays a Role in the Radiation Response of Selected Primary Cell Types but not Based on Nuclear Translocation and p53 Stabilization

, 2023
Supplementary Figure 1 from Tripeptidyl Peptidase II Plays a Role in the Radiation Response of Selected Primary Cell Types but not Based on Nuclear Translocation and p53 ...
Gabriele Niedermann, Jisen Huai, Simone Gaedicke, Chizuko Tsurumi, Elke Firat   +4 more
openaire   +1 more source