Results 21 to 30 of about 29,707,281 (129)
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 +12 more
doaj +1 more source
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 +7 more
doaj +1 more source
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes [PDF]
, 2004 Classical late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2 gene resulting in functional defects of the gene product tripeptidyl-peptidase I.
Isbrandt, D. +9 more
core +1 more source
The Enigma of Tripeptidyl-Peptidase II: Dual Roles in Housekeeping and Stress [PDF]
, 2010 The tripeptidyl-peptidase II complex consists of repeated 138 kDa subunits, assembled into two twisted strands that form a high molecular weight complex (>5MDa).
GLAS R. +3 more
core +2 more sources
Human Tripeptidyl Peptidase II: A Gentle Giant [PDF]
, 2012 Molecular structures can serve to either validate or rule out existing hypotheses, and they can also spawn new, deeper proposals about biochemical mechanism. In this issue of Structure, Schönegge et al.
Glaeser, Robert M.
core +1 more source
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 +7 more
doaj +1 more source
The purification and characterisation of novel dipeptidyl peptidase IV-like activity from bovine serum [PDF]
, 2004 The discovery of a potentially novel proline-specific peptidase from bovine serum is presented which is capable of cleaving the dipeptidyl peptidase IV (DPIV) substrate Gly-Pro-MCA.
Buckley, Seamus J. +3 more
core +2 more sources
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 +7 more
doaj +1 more source
Solvent and thermal stability, and pH kinetics, of proline-specific dipeptidyl peptidase IV-like enzyme from bovine serum [PDF]
, 2007 Proline-specific dipeptidyl peptidase-like (DPP IV; EC 3.4.14.5) activity in bovine serum has attracted little attention despite its ready availability and the paucity of useful proline-cleaving enzymes.
Ruth, Deborah M. +4 more
core +2 more sources
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 +12 more
doaj +1 more source