Results 81 to 90 of about 4,843,979 (151)

Clinical pharmacokinetics and pharmacodynamics of cerliponase alfa, enzyme replacement therapy for CLN2 disease by intracerebroventricular administration [PDF]

, 2020
Cerliponase alfa is recombinant human TPP1 delivered by intracerebroventricular (ICV) infusion for CLN2, a pediatric neurodegenerative disease caused by deficiency in lysosomal enzyme TPP1.
de Hart, G, Specchio, N, Kim, A, de Los Reyes, E, Gissen, P, Cherukuri, A, Slasor, P, Henshaw, JW, Hammon, K, Ajayi, T, Grover, A, Jacoby, D, Schulz, A   +12 more
core   +1 more source

A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy

Folia Neuropathologica
Neuronal ceroid lipofuscinoses (NCLs) are a growing group of neurodegenerative storage diseases, in which specific features are sought to facilitate the creation of a universal diagnostic algorithm in the future. In our ultrastructural studies, the group
Paulina Felczak, Aleksandra Kuźniar-Pałka, Agnieszka Ługowska, Elżbieta Stawicka, Sylwia Tarka, Hanna Mierzewska   +5 more
doaj   +1 more source

Palmitoyl‐Protein Thioesterase 1 (PPT1) Protein, Linked to Neuronal Ceroid Lipofuscinosis 1, Is a Major Constituent of Ageing‐Related Human Neuronal Lipofuscin

Neuropathology and Applied Neurobiology, Volume 51, Issue 5, October 2025.
ABSTRACT Proteomics of laser‐dissected lipofuscin from aged, healthy brains reveals Palmitoyl‐Protein Thioesterase 1 (PPT1) and other CLN proteins as constituents. PPT1 is increasingly sequestered to lipofuscin during ageing. Protein sequestering into lipofuscin may contribute to physiological neuronal ageing.
Max Anstötz, Sarah Tschirner, Caroline May, Steffen Kösters, Christine Martin, Svenja Caspers, Eleonora Aronica, Hans Jürgen Bidmon, Katrin Marcus, Carsten Korth   +9 more
wiley   +1 more source

The Challenges of Living with and Caring for a Child or Children Affected by Neuronal Ceroid Lipofuscinosis Type 2 Disease: In-Depth Family Surveys in the United Kingdom and Germany

Journal of Inborn Errors of Metabolism and Screening
Limited research has investigated the challenges faced by families caring for children with neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Face-to-face, mixed-method, in-depth surveys were conducted with 19 families (23 children) in the UK (n=9 ...
Angela Schulz, Mohit Jain, Thomas Butt, Rachel Ballinger, Lina Eliasson, Jake Macey, Tessa Peasgood, Andrew Olaye, Irini-Alexia Terzakis-Snyder, Iris Dyck, Andrea West   +10 more
doaj   +1 more source

Investigating the Involvement of GABAergic Interneurons and a Gene Therapy Strategy for Epilepsy in CLN2 Disease [PDF]

The neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative lysosomal storage disorders affecting children and young adults. CLN2 disease, or classic late infantile neuronal ceroid lipofuscinosis, is one of the most common forms of NCL and
Takahashi, Keigo
core   +1 more source

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

Neurobiology of Disease, 1999
Batten disease, a degenerative neurological disorder with juvenile onset, is the most common form of the neuronal ceroid lipofuscinoses. Mutations in the CLN3 gene cause Batten disease.
Hannah M. Mitchison, David J. Bernard, Nicholas D.E. Greene, Jonathan D. Cooper, Mohammed A. Junaid, Raju K. Pullarkat, Nanneke de Vos, Martijn H. Breuning, Jennie W. Owens, William C. Mobley, R.Mark Gardiner, Brian D. Lake, Peter E.M. Taschner, Robert L. Nussbaum   +13 more
doaj   +1 more source

Two-year follow-up of gait and postural control following initiation of recombinant human tripeptidyl intracerebroventricular enzyme replacement therapy in two atypical CLN2 patients

Scientific Reports
Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rapidly progressive neurodegenerative disorder leading to premature mortality. Ambulatory CLN2 patients typically receive standard of care treatment through biweekly intracerebroventricular (ICV) enzyme ...
Rahul Soangra, Marybeth Grant-Beuttler, Harriet Chang, Raymond Y. Wang   +3 more
doaj   +1 more source

Modelling of Neuronal Ceroid Lipofuscinosis Type 2 in Dictyostelium discoideum Suggests That Cytopathological Outcomes Result from Altered TOR Signalling

Cells, 2019
The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative disorders with similar clinical manifestations whose precise mechanisms of disease are presently unknown.
Paige K. Smith, Melodi G. Sen, Paul R. Fisher, Sarah J. Annesley   +3 more
doaj   +1 more source

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)

, 2013
Item does not contain fulltextSpinocerebellar ataxias are phenotypically, neuropathologically, and genetically heterogeneous. The locus of autosomal recessive spinocerebellar ataxia type 7 (SCAR7) was previously linked to chromosome band 11p15.
Santen, G.W., Warrenburg, B.P.C. van de, Aten, E., Brusse, E., Hoff, J.I., Losekoot, M., Maat-Kievit, A.J.A., Santen, GWE, Breuning, M.H., Kriek, M., Verdijk, Rob, van De Warrenburg, BP, Brusse, Esther; id_orcid, Kriek, M, Losekoot, M, Oostra, Ben, Santen, G.W.E., Lefeber, DJ, Warrenburg, B.P. van de, Lefeber, D.J., Verheijen, Frans, Breedveld, G.J., Breuning, MH, Dunnen, JT, Maat-Kievit, A.J., Maat-Kievit, AJA, Hoff, JI, Verdijk, R.M., Oostra, B., Dunnen, J.T. den, Brusse, Esther, Almomani, R., Verheijen, F.W., Sun, Y., Breedveld, Guido, Sun, Y, Almomani, R, Aten, E   +37 more
core   +1 more source

Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa

Molecular Genetics and Metabolism Reports
Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes.
Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Sabrina Bazan Natacha, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu Emilia, Marcelo Andrés Kauffman, Nury Isabel Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva   +34 more
doaj   +1 more source