Results 31 to 40 of about 2,448 (132)

Neurofilament light is a treatment‐responsive biomarker in CLN2 disease

Annals of Clinical and Translational Neurology, 2019
Objective Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, progressive, fatal neurodegenerative pediatric disorder resulting from deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 that are caused by mutations in TPP1 ...
Yuanbin Ru, Carley Corado, Russell K. Soon Jr, Andrew C. Melton, Adam Harris, Guoying K. Yu, Nancy Pryer, John R. Sinclair, Martin L. Katz, Temitayo Ajayi, David Jacoby, Chris B. Russell, Sanjay Chandriani   +12 more
doaj   +1 more source

Lysosomal enzyme tripeptidyl peptidase 1 plays a role in degradation of beta amyloid fibrils [PDF]

, 2019
Abstract Alzheimer’s disease (AD) is characterized by the accumulation of amyloid plaques surrounded by microglia. In cell culture, microglia internalize fibrillar β-amyloid but do not degrade it efficiently. Unactivated microglia have a relatively high lysosomal pH, which impairs the activity of lysosomal proteases ...
Cruz, Dana, El-Banna, Mukarram, Majumdar, Amitabha, Sleat, David E., Muldowney, Michelle, Lobel, Peter, Maxfield, Frederick R.   +6 more
openaire   +1 more source

Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease

Molecular Therapy: Methods & Clinical Development, 2017
Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal inherited neurodegenerative disease caused by loss of lysosomal protease tripeptidyl peptidase 1 (TPP1).
Jennifer A. Wiseman, Yu Meng, Yuliya Nemtsova, Paul G. Matteson, James H. Millonig, Dirk F. Moore, David E. Sleat, Peter Lobel   +7 more
doaj   +1 more source

Dose selection for intracerebroventricular cerliponase alfa in children with CLN2 disease, translation from animal to human in a rare genetic disease

Clinical and Translational Science, 2021
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an ultra‐rare pediatric neurodegenerative disorder characterized by deficiency of the lysosomal enzyme tripeptidyl peptidase‐1 (TPP1).
Kevin Hammon, Greg deHart, Brian R. Vuillemenot, Derek Kennedy, Don Musson, Charles A. O’Neill, Martin L. Katz, Joshua W. Henshaw   +7 more
doaj   +1 more source

Processing of Two Latent Membrane Protein 1 MHC Class I Epitopes Requires Tripeptidyl Peptidase II Involvement [PDF]

The Journal of Immunology, 2009
Abstract The EBV Ag latent membrane protein 1 (LMP1) has been described as a potential target for T cell immunotherapy in EBV-related malignancies. However, only a few CD8+ T cell epitopes are known, and the benefit of LMP1-specific T cell immunotherapy has not yet been proven.
Jan, Diekmann, Eleni, Adamopoulou, Olaf, Beck, Georg, Rauser, Sarah, Lurati, Stefan, Tenzer, Hermann, Einsele, Hans-Georg, Rammensee, Hansjörg, Schild, Max S, Topp   +9 more
openaire   +2 more sources

A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies. [PDF]

PLoS ONE, 2017
The Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, result from mutations in over a dozen genes. Although, adults are susceptible, the NCLs are frequently classified as pediatric neurodegenerative diseases due to their greater ...
Ryan D Geraets, Logan M Langin, Jacob T Cain, Camille M Parker, Rosanna Beraldi, Attila D Kovacs, Jill M Weimer, David A Pearce   +7 more
doaj   +1 more source

Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration

Clinical and Translational Science, 2021
Cerliponase alfa is recombinant human tripeptidyl peptidase 1 (TPP1) delivered by i.c.v. infusion for CLN2, a pediatric neurodegenerative disease caused by deficiency in lysosomal enzyme TPP1.
Aryun Kim, Anita Grover, Kevin Hammon, Greg deHart, Peter Slasor, Anu Cherukuri, Temitayo Ajayi, David Jacoby, Angela Schulz, Nicola Specchio, Emily deLos Reyes, Paul Gissen, Joshua W. Henshaw   +12 more
doaj   +1 more source

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

Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I¹ [PDF]

FEBS Letters, 1999
Tripeptidyl peptidase I (TPP‐I) is a lysosomal enzyme that cleaves tripeptides from the N‐terminus of polypeptides. A comparison of TPP‐I amino acid sequences with sequences derived from an EST database suggested that TPP‐I is identical to a pepstatin‐insensitive carboxyl proteinase of unknown specificity which is mutated in classical late infantile ...
David J Vines, Michael J Warburton
openaire   +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