Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions [PDF]
Neurobiology of Disease, 2017 The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive neurodegenerative diseases, with most forms having a childhood onset of clinical signs.
Martin L. Katz +6 more
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Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses [PDF]
Data in Brief, 2021 This article presents datasets associated with the research article entitled “Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease” (Murray et al., [1]). The neuronal ceroid lipofuscinoses (NCL;
Katharina N. Russell +4 more
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Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses [PDF]
Molecular Neurodegeneration, 2019 Neuronal Ceroid Lipofuscinoses (NCLs), commonly known as Batten disease, constitute a group of the most prevalent neurodegenerative lysosomal storage disorders (LSDs).
Anil B. Mukherjee +6 more
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Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin [PDF]
Cells, 2018 Despite the increased focus on the role of calcium in the neuronal ceroid lipofuscinoses (NCLs, also known as Batten disease), links between calcium signalling and the proteins associated with the disease remain to be identified.
Sabateeshan Mathavarajah +2 more
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Glial Dysfunction and Its Contribution to the Pathogenesis of the Neuronal Ceroid Lipofuscinoses [PDF]
Frontiers in Neurology, 2022 While significant efforts have been made in developing pre-clinical treatments for the neuronal ceroid lipofuscinoses (NCLs), many challenges still remain to bring children with NCLs a cure.
Keigo Takahashi +5 more
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Natural history of retinal degeneration in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses [PDF]
Scientific Reports, 2022 Neuronal ceroid lipofuscinoses (NCL; Batten disease) are a group of inherited neurodegenerative diseases with a common set of symptoms including cognitive and motor decline and vision loss.
S. J. Murray, N. L. Mitchell
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Neuronal ceroid lipofuscinoses
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2009 The neuronal ceroid lipofuscinoses (NCL) are severe neurodegenerative lysosomal storage disorders of childhood, characterized by accumulation of autofluorescent ceroid lipopigments in most cells. NCLs are caused by mutations in at least ten recessively inherited human genes, eight of which have been characterized.
Jalanko, Anu, Braulke, Thomas
openaire +4 more sources
Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses [PDF]
Annals of Clinical and Translational Neurology, 2018 Objective Neuronal Ceroid Lipofuscinoses (NCL) are fatal inherited neurodegenerative diseases with established neuronal cell death and increased ceramide levels in brain, hence, a need for disease‐modifying drug candidates, with potential to enhance ...
Joelle Makoukji +7 more
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Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses
Neurobiology of Disease, 2005 Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage disorders characterized pathologically by neuronal accumulation of autofluorescent storage material and neurodegeneration. An ovine NCL form is caused by a recessive point mutation in
Liisa Myllykangas +5 more
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Pathomechanisms in the neuronal ceroid lipofuscinoses
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2020 The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative lysosomal storage disorders (LSDs), traditionally grouped together based on shared clinical symptoms. The recent emergence of new forms of NCL along with an improved understanding of endo-lysosomal system function have necessitated the reassessment of their ...
Hemanth R, Nelvagal +4 more
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