Results 31 to 40 of about 4,913 (183)

Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease

Stem Cell Research, 2021
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive neurodegenerative disorder generally with onset at 2 to 4 years of age and characterized by seizures, loss of vision, progressive motor and mental decline, and premature death.
Li Ma, Adriana M. Prada, Michael Schmidt, Eric M. Morrow   +3 more
doaj   +1 more source

Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2

Brain Sciences, 2023
The introduction of intracerebroventricular (ICV) enzyme replacement therapy (ERT) for treatment of neuronal ceroid lipofuscinosis type 2 (CLN2) disease has produced dramatic improvements in disease management.
Siyamini Sivananthan, Laura Lee, Glenn Anderson, Barbara Csanyi, Ruth Williams, Paul Gissen   +5 more
doaj   +1 more source

Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses

iScience, 2021
Summary: The neuronal ceroid lipofuscinoses (NCL) are a group of 13 rare neurodegenerative disorders characterized by accumulation of cellular storage bodies.
Katharina Iwan, Robert Clayton, Philippa Mills, Barbara Csanyi, Paul Gissen, Sara E. Mole, David N. Palmer, Kevin Mills, Wendy E. Heywood   +8 more
doaj   +1 more source

Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis? [PDF]

, 2023
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric disorder associated with rapid neurodegeneration, and premature death in adolescence.
Hamborg, Christiane, Ribitzki, Tanja, Gissen, Paul, Greenaway, Rebecca, Cappelletti, Simona, Tondo, Ilaria, Nickel, Miriam, Ragni, Benedetta, Schulz, Angela, Specchio, Nicola   +9 more
core   +1 more source

Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

Frontiers in Genetics, 2022
Neuronal ceroid lipofuscinosis type 2 (CLN2) is an autosomal recessive neurodegenerative disease caused by variants in the TPP1 gene that lead to the deficiency of the lysosomal enzyme tripeptidyl peptidase I (TPP1) activity.
Sui-Bing Miao, Hui Guo, De-Xian Kong, Yuan-Yuan Zhao, Shu-Hong Pan, Yan Jiang, Xing Gao, Xiao-Hua Wu   +7 more
doaj   +1 more source

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series [PDF]

, 2021
BackgroundThe classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline ...
Lee, Laura, Guelbert, Norberto, de los Reyes, Emily, Nickel, Miriam, Leal-Pardinas, Fernanda, Lehwald, Lenora, Wibbeler, Eva, Schwering, Christoph, Amato, Gianni, Gissen, Paul, Cohen-Pfeffer, Jessica, Wang, Raymond, Trivisano, Marina, Shediac, Renée, Specchio, Nicola, Schulz, Angela   +15 more
core   +1 more source

Saccharomyces cerevisiae Ssd1p promotes CLN2 expression by binding to the 5′‐untranslated region of CLN2 mRNA [PDF]

Genes to Cells, 2010
In Saccharomyces cerevisiae, TFIID, which is composed of TATA‐binding protein (TBP) and a set of TBP‐associated factors (TAFs), mediates the transcription of most class II genes. Previous studies have shown that CLN2 expression was significantly reduced by taf1–ts2, but not by taf1‐N568Δ, although both mutations display similar temperature‐sensitive ...
Yoshifumi, Ohyama, Koji, Kasahara, Tetsuro, Kokubo   +2 more
openaire   +2 more sources

Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

Orphanet Journal of Rare Diseases, 2021
Background Utility studies enable preference-based quantification of a disease’s impact on patients’ health-related quality of life (HRQoL). It is often difficult to obtain utility values for rare, neurodegenerative conditions due to cognitive burden of ...
Paul Gissen, Nicola Specchio, Andrew Olaye, Mohit Jain, Thomas Butt, Wrik Ghosh, Benjamin Ruban-Fell, Annabel Griffiths, Charlotte Camp, Zlatko Sisic, Christoph Schwering, Eva Wibbeler, Marina Trivisano, Laura Lee, Miriam Nickel, Amanda Mortensen, Angela Schulz   +16 more
doaj   +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

Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials

Frontiers in Neurology, 2022
Conducting clinical trials in rare diseases is challenging. In trials that aim to use natural history control cohorts for evaluation of efficacy, lack of data on natural history of disease prolongs development of future therapies significantly. Therefore,
Miriam Nickel, Angela Schulz
doaj   +1 more source