Ceroid-lipofuscinoses
Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses
... In summary, endolysosomal and autophagic dysfunction underlie most of the LSDs and neurodegeneration is a dev- astating manifestation in most of these diseases. Neuronal ceroid lipofuscinoses are the most ...
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Longitudinal in vivo monitoring of the neuropathology in ovine neuronal ceroid lipofuscinoses
... neuronal ceroid lipofuscinoses (NCLs) is one of the most common reasons for childhood dementia, characterized by brain atrophy, blindness, mental decline and premature ...
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Computed tomography provides enhanced techniques for longitudinal monitoring of progressive intracranial volume loss associated with regional neurodegeneration in ovine neuronal ceroid lipofuscinoses
... neuronal ceroid lipofuscinoses (NCLs; Batten disease) are a group of fatal neurodegenerative lysosomal storage diseases of children caused by various mutations in a range of ...
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Biochemical studies on animal models of ceroid lipofuscinoses : a thesis presented in partial fulfilment of the requirements for the degree of Doctor in Philosophy in Veterinary Pathology, Massey University
... Autofluorescence in the yellow-orange region (520-540 nm) is another characteristic feature of stored lipopigment. To date neither the nature of t h e flourophor nor its sig nificance , if any, has been det e rmi ned. A ...
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Longitudinal studies and the development of gene therapy for ovine neuronal ceroid lipofuscinoses
... Immunostaining for GFAP reveals the extent of astrocytosis in the untreated normal control and CLN6 affected sheep visual cortices compared with those from CLN6 affected sheep treate[r] ...
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Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses
... The neural stem cells derived from these patient iPSC lines exhibited characteristic disease phenotypes of defi- ciency of the relevant enzyme, enlarged lysosomes, lipid droplet accumula[r] ...
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Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
... Neuronal ceroid lipofuscinoses (NCLs) are inherited, progressive, neurodegenerative, lyso- somal storage diseases. Adult-onset NCLs (ANCLs), also known as Kufs disease (KD), are rare and challenging to ...
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Cysteine string protein (CSP) and its role in preventing neurodegeneration
... neuronal ceroid lipofuscinoses, which is a large genetically heterogeneous class of neurodegenerative disorders defined by these two essential features [86, ...
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The molecular genetics of Turkish variant late infantile neuronal ceroid lipofuscinosis (LINCL)
... neuronal ceroid lipofuscinoses (NCL: also known as Batten disease) are a group o f childhood neurodegenerative ...f ceroid-lipofuscin- like lipopigments (Zeman and Dyken 1969) which differed from ...
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Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons
... The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are a group of inherited, fatal neurodegenerative disorders of childhood. In these disorders, glial (microglial and astrocyte) activation ...
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Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis
... The neuronal ceroid lipofuscinoses (NCLs) are the most common cause of childhood dementia and are invariably fatal. Early localized glial activation occurs in these disorders, and accurately predicts where ...
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Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder
... Neuronal ceroid lipofuscinoses (NCLs), caused by mutations in CLN genes, are fatal childhood neurodegenerative lysosomal storage diseases without a ...
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Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography
... neuronal ceroid lipofuscinoses constitute a group of fatal inherited lysosomal storage diseases that manifest in profound neurodegeneration in the ...and ceroid lipofuscinosis neuronal 3 deficient ...
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Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis
... Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births ...or ceroid in the lysosome, progressive neuronal ...
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Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
... Neuronal ceroid lipofuscinoses (NCLs) are inherited, progressive, neurodegenerative, lyso- somal storage diseases. Adult-onset NCLs (ANCLs), also known as Kufs disease (KD), are rare and challenging to ...
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Chronic oral administration of minocycline to sheep with ovine CLN6 neuronal ceroid lipofuscinosis maintains pharmacological concentrations in the brain but does not suppress neuroinflammation or disease progression
... neuronal ceroid lipofuscinoses (NCLs; or Batten disease) are a group of fatal inherited human neurode- generative diseases affecting about 1:12,500 live births worldwide ...
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Novel in frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report
... neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage ...neuronal ceroid lipofuscinosis, which can be inherited in either an autosomal recessive or an autosomal dominant ...
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Acid ceramidase deficiency: Farber disease and SMA-PME
... AAV9: Adeno-associated virus serotype 9; ACDase: Acid ceramidase; CHO: Chinese hamster ovary; CLN2: Neuronal ceroid lipofuscinosis type 2; CRP: C- reactive protein; CNS: Central nervous [r] ...
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Using to fight human neurodegenerative diseases.
... elegans null mutant model of the rare autosomal dominant human ND known as adult-onset neuronal ceroid lipofuscinosis ANCL, but also ameliorated the mobility defect and short lifespan of[r] ...
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Ophthalmic examination as a means to diagnose Subacute Sclerosing Panencephalitis: an optical coherence tomography and ultrawide field imaging evaluation
... MRI: Magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; OCT: Optical coherence tomography; RE: Right eye; SSPE: Subacute sclerosing panencephalitis; UWFA: Ultrawide field f[r] ...
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