Results 41 to 50 of about 4,913 (183)

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

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

Autoradiograph, Cln2-Cdk1 + Cks1 on Whi5[WT or ∆Cks1]

, 2023
Autoradiograph assay of purified Cln2-Cdk1-Cks1 phosphorylating Whi5 with or without Cks1 site mutations from threonine to ...
Jordan Xiao (16510896)
core   +1 more source

“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

Journal of Inborn Errors of Metabolism and Screening, 2021
Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration.
Favio Pesaola, Guillermo Guelbert, Ana Clara Venier, Inés Adriana Cismondi, Adriana Becerra, Juan Carlos G. Vazquez, Elmer Fernandez, Ana Lucia De Paul, Norberto Guelbert, Inés Noher   +9 more
doaj   +1 more source

Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARα: Implications for late-infantile Batten disease therapy

Neurobiology of Disease, 2019
The late-infantile Batten disease or late-infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive lysosomal storage disorder caused by mutations in the Cln2 gene leading to deficiency of lysosomal enzyme tripeptidyl peptidase 1 (TPP1).
Sudipta Chakrabarti, Sujyoti Chandra, Avik Roy, Sridevi Dasarathi, Madhuchhanda Kundu, Kalipada Pahan   +5 more
doaj   +1 more source

Extracellular Vesicles Released by Genetically Modified Macrophages Activate Autophagy and Produce Potent Neuroprotection in Mouse Model of Lysosomal Storage Disorder, Batten Disease

Cells, 2023
Over the recent decades, the use of extracellular vesicles (EVs) has attracted considerable attention. Herein, we report the development of a novel EV-based drug delivery system for the transport of the lysosomal enzyme tripeptidyl peptidase-1 (TPP1) to ...
Nazira El-Hage, Matthew J. Haney, Yuling Zhao, Myosotys Rodriguez, Zhanhong Wu, Mori Liu, Carson J. Swain, Hong Yuan, Elena V. Batrakova   +8 more
doaj   +1 more source

Cln2 degroni ja promootori mõju valgu ekspressiooni tasemele [PDF]

, 2020
Precise regulation of the cell cycle events is essential for correct DNA replication and successful cell reproduction. Progression through the cell cycle is tightly controlled over a multisite phosphorylation network.
Shmidt, Daniel
core  

Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin

Data in Brief, 2016
The article contains raw and analyzed data related to the research article “Neuronal ceroid lipofuscinosis genes, CLN2, CLN3, CLN5 are spatially and temporally co-expressed in a developing mouse brain” (Fabritius et al., 2014) [1].
Helena M. Minye, Anna-Liisa Fabritius, Jouni Vesa, Leena Peltonen   +3 more
doaj   +1 more source

Visual perception and macular integrity in non-classical CLN2 disease

Graefe's Archive for Clinical and Experimental Ophthalmology, 2022
Abstract Purpose Patients with CLN2 suffer from epileptic seizures, rapid psychomotor decline and vision loss in early childhood. The aim of the study was to provide longitudinal ophthalmic data of patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and
Yevgeniya Atiskova, Jan Wildner, Eva Wibbeler, Miriam Nickel, Martin Stephan Spitzer, Christoph Schwering, Angela Schulz, Simon Dulz   +7 more
openaire   +2 more sources

Molecular basis of the functional distinction between Cln1 and Cln2 cyclins [PDF]

Cell Cycle, 2012
Cln1 and Cln2 are very similar but not identical cyclins. In this work, we tried to describe the molecular basis of the functional distinction between Cln1 and Cln2. We constructed chimeric cyclins containing different fragments of Cln1 and Cln2 and performed several functional analysis that make it possible to distinguish between Cln1 or Cln2.
Inma, Quilis, Juan Carlos, Igual
openaire   +2 more sources