Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses. [PDF]
Autophagy, 2023 Wang Y, Wang H, Wang C.
europepmc +1 more source
Exploration of NeuroscienceA short overview of the main features of progressive myoclonus epilepsies (PMEs), such as Lafora disease (LD), neuronal ceroid lipofuscinoses (NCLs), and myoclonus epilepsy with ragged-red fibers (MERRF) is given.
Eva Žerovnik
doaj +1 more source
Neuronale Ceroid-Lipofuszinosen [PDF]
Der Ophthalmologe, 2021 M S, Spitzer, U, Bartsch
openaire +2 more sources
Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency [PDF]
, 2008 Milan Elleder +8 more
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Determining an efficient protocol for production of neural stem cells [PDF]
, 2005 only availableMouse embryonic stem (ES) cells are pluripotent cells derived from the inner cell mass of the developing blastocyst. When cultured in non-adherent dishes, ES cells form free-floating embryoid bodies (EBs).
Carter, Michelle +2 more
core
KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses. [PDF]
Sci Adv, 2022 Wang Y +10 more
europepmc +1 more source
Embryonic stem cells cross-correct for defects found in a mutant mouse model for the neurodegenerative disorder known as Batten Disease [abstract] [PDF]
, 2006 only availableFaculty Mentor: Mark Kirk, Biological SciencesOur research focuses on a class of hereditary diseases called the neuronal ceroid-lipofuscinoses (NCLs), also known as Batten Disease.
McFerson, Megan
core
Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View. [PDF]
Front Neurol, 2021 Kohlschütter A.
europepmc +1 more source
Characterization of degeneration in the retina, brain and spinal cord of the Cln1 knockout mouse [PDF]
, 2004 only availableThe neuronal-ceroid lipofuscinoses (NCLs; often referred to as Battens Disease) are a group of hereditary disorders of childhood. Symptoms of NCLs are characterized by neurodegeneration with progressive neural cell death in the retina and ...
Jackson, Teresa +6 more
core
Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography [PDF]
, 2014 core +1 more source