Results 11 to 20 of about 5,834 (144)

Reversible synaptic deficits in early-stage batten disease [PDF]

Journal of Translational Medicine
Background Juvenile neuronal ceroid lipofuscinosis (JNCL, Batten Disease) is a childhood-onset, neurodegenerative, lysosomal storage disorder caused by mutations in the lysosomal gene CLN3. Progressive cognitive decline is characteristic clinical feature,
Masood Ahmad Wani, Chloe M. Hall, Thomas Mittmann, Benedikt Grünewald, Jakob von Engelhardt   +4 more
doaj   +2 more sources

Modeling CLN3 Batten disease in astrocytes reveals alterations in mitochondria homeostasis, fatty acid metabolism and oxidative stress response [PDF]

Journal of Biomedical Science
Background CLN3 Batten disease is a severe pediatric neurodegenerative disorder caused by mutations in the CLN3 gene, most commonly a 1 kb deletion encompassing exons 7 and 8.
Mingyi Yang, Wei Wang, María Cámara-Quílez, Borghild Hvesser Farsund, Niklas Nonboe Andersen, Karin Garten, Animesh Sharma, Xiaolin Lin, Ingrid Åmellem, Erlend Ravlo, Jing Ye, Magnar Bjørås, Mirta Mittelstedt Leal de Sousa   +12 more
doaj   +2 more sources

Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease

Neurobiology of Disease, 2006
Batten disease, a lysosomal storage disorder, is caused by mutations in the CLN3 gene. The Cln3-knockout (Cln3−/−) mouse model of the disease exhibits many characteristic pathological features of the human disorder.
Attila D. Kovács, Jill M. Weimer, David A. Pearce   +2 more
doaj   +3 more sources

TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease [PDF]

EMBO Molecular Medicine, 2022
Lysosomes are cell organelles that degrade macromolecules to recycle their components. If lysosomal degradative function is impaired, e.g., due to mutations in lysosomal enzymes or membrane proteins, lysosomal storage diseases (LSDs) can develop.
Anna Scotto Rosato, Einar K Krogsaeter, Dawid Jaślan, Carla Abrahamian, Sandro Montefusco, Chiara Soldati, Barbara Spix, Maria Teresa Pizzo, Giuseppina Grieco, Julia Böck, Amanda Wyatt, Daniela Wünkhaus, Marcel Passon, Marc Stieglitz, Marco Keller, Guido Hermey, Sandra Markmann, Doris Gruber‐Schoffnegger, Susan Cotman, Ludger Johannes, Dennis Crusius, Ulrich Boehm, Christian Wahl‐Schott, Martin Biel, Franz Bracher, Elvira De Leonibus, Elena Polishchuk, Diego L Medina, Dominik Paquet, Christian Grimm   +29 more
doaj   +2 more sources

The Wechsler intelligence scale for children, fourth and fifth editions perform comparably in children with Batten disease [PDF]

Orphanet Journal of Rare Diseases
Background The neuronal ceroid lipofuscinoses (Batten disease) are rare neurodegenerative lysosomal storage diseases principally of childhood onset and an autosomal recessive inheritance pattern. Cognitive regression is a hallmark of the disease, and has
Heather R. Adams, Erika F. Augustine, Kristen Bonifacio, Alyssa Collins, Amy E. Vierhile, Jonathan W. Mink   +5 more
doaj   +2 more sources

Characterisation of early changes in ovine CLN5 and CLN6 Batten disease neural cultures for the rapid screening of therapeutics

Neurobiology of Disease, 2017
Batten disease (neuronal ceroid lipofuscinosis) refers to a group of neurodegenerative lysosomal storage diseases predominantly affecting children. There are currently no effective treatments, and the functions of many of the associated gene products are
Hannah L Best, Nicole J Neverman, Hollie E Wicky, Nadia L Mitchell, Beulah Leitch, Stephanie M Hughes   +5 more
doaj   +3 more sources

Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement

Biomolecules, 2021
Batten disease is a devastating, childhood, rare neurodegenerative disease characterised by the rapid deterioration of cognition and movement, leading to death within ten to thirty years of age.
Indranil Basak, Rachel A. Hansen, Michael E. Ward, Stephanie M. Hughes   +3 more
doaj   +1 more source

Glycerophosphodiesters inhibit lysosomal phospholipid catabolism in Batten disease. [PDF]

Mol Cell
Nyame K, Hims A, Aburous A, Laqtom NN, Dong W, Medoh UN, Heiby JC, Xiong J, Ori A, Abu-Remaileh M.   +9 more
europepmc   +2 more sources

Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment

Orphanet Journal of Rare Diseases, 2022
Background Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA).
Amanda Mortensen, Eva M. Raebel, Samantha Wiseman   +2 more
doaj   +1 more source

Bilateral visual loss, behavioral changes, and overlooking in a young child with stargardt disease: Neurodiagnostic considerations

American Journal of Ophthalmology Case Reports, 2022
Purpose: To illustrate the potential diagnostic confusion between Batten disease and Stargardt disease created by associated signs and symptoms. Observations: A six-year-old girl with vision loss and prominent behavioral changes and overlooking was ...
Michael C. Brodsky, Arlene Drack
doaj   +1 more source