Results 41 to 50 of about 1,071 (153)

Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis. [PDF]

PLoS ONE, 2012
Variant late-infantile neuronal ceroid lipofuscinosis, a fatal lysosomal storage disorder accompanied by regional atrophy and pronounced neuron loss in the brain, is caused by mutations in the CLN6 gene.
Melanie Thelen, Markus Damme, Michaela Schweizer, Christian Hagel, Andrew M S Wong, Jonathan D Cooper, Thomas Braulke, Giovanna Galliciotti   +7 more
doaj   +1 more source

Lipofuscinosis ceroidea neuronal 6 (enfermedad Kufs tipo A): Reporte de caso en Colombia

Acta Neurológica Colombiana, 2021
INTRODUCCIÓN: Las lipofuscinosis ceroideas neuronales (CLN) son un grupo de enfermedades neurodegenerativas de inicio generalmente en la infancia, caracterizadas por acumulación intracelular de material de almacenamiento autofluorescente.
Diana Vanessa González Pabón, Sindy Margareth Bermejo Padilla, Eugenia Espinosa García   +2 more
doaj   +1 more source

A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease. [PDF]

PLoS ONE, 2013
Neuronal ceroid lipofuscinoses (NCLs; also known collectively as Batten Disease) are a family of autosomal recessive lysosomal storage disorders.
Jeremy P Morgan, Helen Magee, Andrew Wong, Tarah Nelson, Bettina Koch, Jonathan D Cooper, Jill M Weimer   +6 more
doaj   +1 more source

Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis. [PDF]

PLoS ONE, 2013
Mutations in the CLN6 gene cause a variant late infantile form of neuronal ceroid lipofuscinosis (NCL; Batten disease). CLN6 loss leads to disease clinically characterized by vision impairment, motor and cognitive dysfunction, and seizures.
Katja M Kanninen, Alexandra Grubman, Jodi Meyerowitz, Clare Duncan, Jiang-Li Tan, Sarah J Parker, Peter J Crouch, Brett M Paterson, James L Hickey, Paul S Donnelly, Irene Volitakis, Imke Tammen, David N Palmer, Anthony R White   +13 more
doaj   +1 more source

A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature

Frontiers in Genetics, 2021
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive lysosomal storage disorders that are characterized by neurodegeneration, progressive cognitive decline, motor impairment, ataxia, loss of vision ...
Paschalis Nicolaou, Paschalis Nicolaou, George A. Tanteles, George A. Tanteles, Christina Votsi, Christina Votsi, Eleni Zamba-Papanicolaou, Eleni Zamba-Papanicolaou, Savvas S. Papacostas, Savvas S. Papacostas, Kyproula Christodoulou, Kyproula Christodoulou, Yiolanda-Panayiota Christou, Yiolanda-Panayiota Christou   +13 more
doaj   +1 more source

Progressive retinal degeneration and glial activation in the CLN6 (nclf) mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementation. [PDF]

PLoS ONE, 2013
Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative lysosomal storage disorders characterized by vision loss, mental and motor deficits, and spontaneous seizures.
Myriam Mirza, Cornelia Volz, Marcus Karlstetter, Monica Langiu, Aleksandra Somogyi, Mika O Ruonala, Ernst R Tamm, Herbert Jägle, Thomas Langmann   +8 more
doaj   +1 more source

Aggregation chimeras provide evidence of in vivo intercellular correction in ovine CLN6 neuronal ceroid lipofuscinosis (Batten disease)

PLoS ONE, 2022
The neuronal ceroid lipofuscinoses (NCLs; Batten disease) are fatal, mainly childhood, inherited neurodegenerative lysosomal storage diseases. Sheep affected with a CLN6 form display progressive regionally defined glial activation and subsequent ...
Lucy Anne Barry, Graham William Kay, Nadia Lesley Mitchell, Samantha Jane Murray, Nigel P. Jay, David Norris Palmer   +5 more
doaj   +2 more sources

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations [PDF]

Neurology, 2015
To describe the clinical and neurophysiologic patterns of patients with neuronal ceroid lipofuscinoses associated with CLN6 mutations.We reviewed the features of 11 patients with different ages at onset.Clinical disease onset occurred within the first decade of life in 8 patients and in the second and third decades in 3.
Canafoglia L, Gilioli I, Invernizzi F, SOFIA, Vito, Fugnanesi V2, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S.   +13 more
openaire   +4 more sources

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. [PDF]

PLoS ONE, 2011
Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of ...
Yi Cao, John F Staropoli, Sunita Biswas, Janice A Espinola, Marcy E MacDonald, Jong-Min Lee, Susan L Cotman   +6 more
doaj   +1 more source

Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis

Biology Open, 2013
Summary Neuronal ceroid lipofuscinoses, the most common fatal childhood neurodegenerative illnesses, share many features with more prevalent neurodegenerative diseases. Neuronal ceroid lipofuscinoses are caused by mutations in CLN genes.
Katja M. Kanninen, Alexandra Grubman, Aphrodite Caragounis, Clare Duncan, Sarah J. Parker, Grace E. Lidgerwood, Irene Volitakis, George Ganio, Peter J. Crouch, Anthony R. White   +9 more
doaj   +1 more source