Results 51 to 60 of about 5,834 (144)

Loss of the lysosomal protein CLN3 triggers c-Abl-dependent YAP1 pro-apoptotic signaling

EMBO Reports
Batten disease is characterized by early-onset blindness, juvenile dementia and death within the second decade of life. The most common genetic cause are mutations in CLN3, encoding a lysosomal protein.
Neuza Domingues, Alessia Calcagni’, Sofia Freire, Joana Pires, Ricardo Casqueiro, Ivan L Salazar, Niculin Joachim Herz, Tuong Huynh, Katarzyna Wieciorek, Tiago Fleming Outeiro, Henrique Girão, Ira Milosevic, Andrea Ballabio, Nuno Raimundo   +13 more
doaj   +1 more source

The CLN3 gene and protein: What we know

Molecular Genetics & Genomic Medicine, 2019
Background One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental
Myriam Mirza, Anna Vainshtein, Alberto DiRonza, Uma Chandrachud, Luke J. Haslett, Michela Palmieri, Stephan Storch, Janos Groh, Niv Dobzinski, Gennaro Napolitano, Carolin Schmidtke, Danielle M. Kerkovich   +11 more
doaj   +1 more source

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

EMBO Molecular Medicine, 2021
Batten diseases (BDs) are a group of lysosomal storage disorders characterized by seizure, visual loss, and cognitive and motor deterioration. We discovered increased levels of globotriaosylceramide (Gb3) in cellular and murine models of CLN3 and CLN7 ...
Chiara Soldati, Irene Lopez‐Fabuel, Luca G Wanderlingh, Marina Garcia‐Macia, Jlenia Monfregola, Alessandra Esposito, Gennaro Napolitano, Marta Guevara‐Ferrer, Anna Scotto Rosato, Einar K Krogsaeter, Dominik Paquet, Christian M Grimm, Sandro Montefusco, Thomas Braulke, Stephan Storch, Sara E Mole, Maria A De Matteis, Andrea Ballabio, Julio L Sampaio, Tristan McKay, Ludger Johannes, Juan P Bolaños, Diego L Medina   +22 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

Retinoyl Complexes in Batten Disease [PDF]

Science, 1977
E C, Nelson, B A, Halley
openaire   +5 more sources

Batten Disease [PDF]

Learning Disability Practice, 2019
openaire   +2 more sources

Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy

Frontiers in Genetics
A class of progressive, autosomal recessive neurodegenerative diseases known as neuronal ceroid lipofuscinoses (NCLs) are brought on by lysosomal protein or enzyme dysfunction.
Anna Bryzik, Dawid Larysz, Patrycja Larysz, Julia Izabela Karpierz, Justyna Paprocka   +4 more
doaj   +1 more source

Batten's disease. [PDF]

British Journal of Ophthalmology, 1980
openaire   +2 more sources

A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes. [PDF]

Dis Model Mech, 2023
Swier VJ, White KA, Johnson TB, Wang X, Han J, Pearce DA, Singh R, Drack AV, Pfeifer W, Rogers CS, Brudvig JJ, Weimer JM.   +11 more
europepmc   +1 more source

Batten's Disease

Annals of Indian Academy of Neurology, 2021
Nishanth Dev, Rahul Kumar, Shruti Sharma, M C Sharma   +3 more
openaire   +3 more sources