Results 1 to 10 of about 2,498 (170)

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis

Nature Communications, 2022
CLN7 neuronal ceroid lipofuscinosis is an inherited lysosomal storage disease typically with childhood onset of neurodegenerative symptoms. Here the authors report that in a mouse model of CLN7 disease neuronal reactive oxygen species and the activity of
Irene Lopez-Fabuel, Marina Garcia-Macia, Costantina Buondelmonte, Olga Burmistrova, Nicolo Bonora, Paula Alonso-Batan, Brenda Morant-Ferrando, Carlos Vicente-Gutierrez, Daniel Jimenez-Blasco, Ruben Quintana-Cabrera, Emilio Fernandez, Jordi Llop, Pedro Ramos-Cabrer, Aseel Sharaireh, Marta Guevara-Ferrer, Lorna Fitzpatrick, Christopher D. Thompton, Tristan R. McKay, Stephan Storch, Diego L. Medina, Sara E. Mole, Peter O. Fedichev, Angeles Almeida, Juan P. Bolaños   +23 more
doaj   +1 more source

Neuronal ceroid lipofuscinosis: A case report

Bangabandhu Sheikh Mujib Medical University Journal, 2023
Neuronal ceroid lipofuscinoses (NCL) represent severe neurodegenerative conditions which is one of the lysosomal storage disorders. There are four main clinical forms of NCL among which late infantile variety is the second most common condition.
Gopen Kumar Kundu, Masuma Akhter, Sanjida Ahmed, Bishnu Pada Dey, Shah Noor Hassan   +4 more
doaj   +1 more source

Phenotypes of Juvenile Batten Disease

Pediatric Neurology Briefs, 1999
The phenotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients were correlated with the genotypes in a study at Helsinki University, Finland; and the Rayne Institute, University College, London, UK.
J Gordon Millichap
doaj   +1 more source

Lipofuscinosis ceroidea neuronal 6 (enfermedad Kufs tipo A): Reporte de caso en Colombia

Acta Neurológica Colombiana, 2021
INTRODUCCIÓN: Las lipofuscinosis ceroideas neuronales (CLN) son un grupo de enfermedades neurodegenerativas de inicio generalmente en la infancia, caracterizadas por acumulación intracelular de material de almacenamiento autofluorescente.
Diana Vanessa González Pabón, Sindy Margareth Bermejo Padilla, Eugenia Espinosa García   +2 more
doaj   +1 more source

Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis

Neurobiology of Disease, 2008
Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessively inherited neurodegenerative disorder that results from mutations in the CLN3 gene.
Martin L. Katz, Gary S. Johnson, Gregory E. Tullis, Bo Lei   +3 more
doaj   +1 more source

Akap5 links synaptic dysfunction to neuroinflammatory signaling in a mouse model of infantile neuronal ceroid lipofuscinosis

Frontiers in Synaptic Neuroscience
Palmitoylation and depalmitoylation represent dichotomic processes by which a labile posttranslational lipid modification regulates protein trafficking and degradation.
Kevin P. Koster, Zach Fyke, Thu T. A. Nguyen, Amanda Niqula, Lorena Y. Noriega-González, Kevin M. Woolfrey, Mark L. Dell’Acqua, Stephanie M. Cologna, Akira Yoshii, Akira Yoshii, Akira Yoshii   +10 more
doaj   +1 more source

Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging

International Clinical Neuroscience Journal, 2021
Ceroid neuronal lipofuscinosis (CLN) is a rare group of autosomal recessive neurodegenerative diseases that cause developmental delay and seizures. Herein, we present a case of a 7-year-old girl who referred for magnetic resonance imaging (MRI) following
Antonio Gomes Lima Júnior, Nina Maia Pinheiro de Abreu, João Paulo Carmo Rodrigues, Marcus Vinícius Buratti Leal, Anielly Sampaio Clarindo, Andre Luiz Santos Pessoa, Laura Vitória Melo Gomes, Antonio Helder Costa Vasconcelos, Pablo Picasso de Araujo Coimbra   +8 more
doaj   +1 more source

Cardiac Involvement in Batten Disease

Pediatric Neurology Briefs, 2011
The onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease) are studied in 29 children and adolescents with genetically verified disease at Aarhus University Hospital, Skejby, Denmark.
J Gordon Millichap
doaj   +1 more source

Cerolipofuscinose: estudo ultrastrutural de 8 casos.

Acta Médica Portuguesa, 1989
The authors studied the clinical and ultrastructural features of 8 cases of Neuronal Ceroid-Lipofuscinosis (NCL). Five cases of the late-infantile type and 3 cases of the juvenile type.
C Matias, A Cabral, T Tasso, R Portela, A Jorge, J F Nunes, J Soares   +6 more
doaj   +1 more source

CSPα in neurodegenerative diseases

Frontiers in Aging Neuroscience, 2022
Adult-onset neuronal ceroid lipofuscinosis (ANCL) is a rare neurodegenerative disease characterized by epilepsy, cognitive degeneration, and motor disorders caused by mutations in the DNAJC5 gene.
Liqin Huang, Zhaohui Zhang
doaj   +1 more source