Results 91 to 100 of about 4,913 (183)

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

Overexpression of CLN1, CLN2, or ERG13 increases resistance to adriamycin in Saccharomyces cerevisiae

The Journal of Toxicological Sciences, 2011
To elucidate the mechanisms underlying adriamycin resistance, adriamycin resistance-related genes were explored using the budding yeast Saccharomyces cerevisiae as a useful eukaryotic model. The CLN1 and CLN2 genes, encoding G1 cyclin, and the ERG13 gene, encoding 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) synthase, were identified.
Takahashi, Tsutomu, Nakashima, Shingo, Masuda, Takuro, Yoneda, Shigehiro, Hwang, Gi-Wook, Naganuma, Akira   +5 more
openaire   +3 more sources

Poly[bis[chloridocopper(I)]-μ4-1,4-bis[1-(3-pyridylmethyl)-1H-benzimidazol-2-yl]butane]

Acta Crystallographica Section E, 2008
The title CuI coordination polymer, [Cu2Cl2(C30H28N6)]n, was obtained by reaction of CuCl2·2H2O and 1,4-bis[1-(3-pyridylmethyl)-1H-benzimidazol-2-yl]butane. Each CuI cation is three-coordinated by a ClN2 donor set.
Jian-Fang Ma, Ying-Ying Liu, Wei-Ping Zhang   +2 more
doaj   +1 more source

Cln2 fosfodegronil põhinevad valgustabiilsust mõjutavad järjestused [PDF]

, 2019
In English: There are several levels of the regulation of protein expression. Protein phosphorylation is a common way of signal transduction in cell signaling pathways and it provides a fast response.
Panfilova, Aleksandra
core  

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

A Single-Center Review of Infusion-Associated Reactions in Patients with CLN2 Disease Receiving Cerliponase Alfa

Biologics
Background: Cerliponase alfa is an intracerebroventricular (ICV) enzyme replacement therapy (ERT) and the only approved treatment for neuronal ceroid lipofuscinosis type 2 (CLN2) disease.
Rebecca Whiteley, Megan Keating, Mel McSweeney, Megan Dorman, Mathilda Antonini, Spyros Batzios, Emma Footitt, Laura Lee-Clark, Paul Gissen   +8 more
doaj   +1 more source

Macropinocytosis is reduced in CLN2 and especially in CLN3 fibroblasts.

, 2013
(A) Representative fluorescence microscopic images of control, CLN2 and CLN3 fibroblasts incubated at 37°C for 2 h with 0.5 mg/ml FITC-dextran, followed by a 30 min chase. Bar: 50 µm. Insets show cells at higher magnification. Bar: 150 µm.
Carmen Aguado (280475), Jaime Cárcel-Trullols (280473), José Manuel Vidal-Donet (280472), Bonaventura Casanova (280474), Erwin Knecht (280476)   +4 more
core   +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

Zur Pathogenese der spätinfantilen neuronalen Ceroidlipofuszinose (CLN2) : Beeinflussung des Energiestoffwechsels und der Proliferation an einem zellulären Modell der CLN2-Krankheit

, 2006
Die neuronalen Ceroid-Lipofuszinosen (NCL-Krankheiten) sind progrediente neurodegenerative Krankheiten. Gemeinsames Merkmal aller Formen ist die Entwicklung von Demenz und Amaurose sowie die intrazelluläre Speicherung von Ceroidlipofuszin.
Liersch, Julia
core  

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