Results 21 to 30 of about 1,071 (153)

CLN6 Variant of Late Infantile Neuronal Ceroid Lipofuscinosis Caused by a Homozygous Mutation: Case Report in Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2023
Introduction: Neuronal ceroid lipofuscinosis (NCLs) is an autosomal recessive neurodegenerative disorders group. We report the first case in Colombia involving a new genetically confirmed variant of a homozygous CLN6 mutation.
Daniel Eduardo Manrique Hernandez, Diana Sanchez-Peñarete, Sandra Milena Castellar-Leones, Lisseth Cabarcas-Castro   +3 more
doaj   +1 more source

CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses

Biomedical Research, 2021
CLN6 (Ceroid Lipofuscinosis, Neuronal, 6) is a 311-amino acid protein spanning the endoplasmic reticulum membrane. Mutations in CLN6 are linked to CLN6 disease, a hereditary neurodegenerative disorder categorized into the neuronal ceroid lipofuscinoses.
SHIRO, Yuki, YAMASHITA, Arisa, WATANABE, Kana, YAMAZAKI, Tetsuo   +3 more
openaire   +3 more sources

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

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature. [PDF]

Epileptic Disord
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
Kapoor D, Sharma S, Kaminska A, Nabbout R, Chemaly N, Schiff M, De Lonlay P, Eisermann M.   +7 more
europepmc   +2 more sources