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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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
Gerald Rubin +2 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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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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Perioperative care of a patient with neuronal ceroid lipofuscinoses
Saudi Journal of Anaesthesia, 2013 The neuronal ceroid lipofuscinoses (NCL) are a group of inherited, autosomal recessive, and progressive neurodegenerative diseases, which result from an enzymatic defect or the deficiency of a transmembrane protein, leading to the accumulation of ...
Hiromi Kako +2 more
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Global Brain Transcriptome Analysis of a Neuronal Ceroid Lipofuscinoses Mouse Model [PDF]
ASN Neuro, 2019 In humans, homozygous mutations in the TPP1 gene results in loss of tripeptidyl peptidase 1 (TPP1) enzymatic activity, leading to late infantile neuronal ceroid lipofuscinoses disease.
Miriam S. Domowicz +7 more
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Ocular therapies for neuronal ceroid lipofuscinoses: more than meets the eye [PDF]
Neural Regeneration Research, 2022 Samantha J Murray, Nadia L Mitchell
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The Neuronal Ceroid Lipofuscinoses
Abstract The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited lysosomal storage disorders that share similar pathological and clinical features. They are characterized by accumulation of autofluorescent storage material within the lysosome and the death of neurons.
Mole SE.
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