Results 41 to 50 of about 1,648 (197)

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 [PDF]

The American Journal of Human Genetics, 2011
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to neurons and can require a brain biopsy or autopsy for final ...
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, SOFIA, Vito, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF   +21 more
openaire   +5 more sources

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease [PDF]

bioRxiv, 2019
The neuronal ceroid lipofuscinoses (NCLs), more commonly referred to as Batten disease, are a group of inherited lysosomal storage disorders that present with neurodegeneration, loss of vision and premature death.
Herranz-Martin, S, Hughes, MP, Klaska, IP, Hoke, J, Holthaus, S-MK, Ali, RR, Massaro, G, Semenyuk, O, Maswood, R, Shah, AZ, Basche, M, Aristorena, M, Rahim, AA, Mole, SE, Smith, AJ   +14 more
core   +3 more sources

Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology [PDF]

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2006
The CLN6 vLINCL is caused by molecular defects in CLN6 gene coding for an ER resident transmembrane protein whose function is unknown. In the present study gene expression profiling of CLN6-deficient fibroblasts using cDNA microarray was undertaken in order to provide novel insights into the molecular mechanisms underlying this neurodegenerative fatal ...
Teixeira, C.A.F., Lin, S., Mangas, M., Quinta, R., Bessa, C.J.P., Ferreira, C., Sá Miranda, M.C., Boustany, R-M.N., Ribeiro, M.G.   +8 more
openaire   +3 more sources

Generierung monoklonaler Antikörper gegen das Protein CLN6 [PDF]

, 2017
Neuronal Ceroid Lipofuscinoses NCL /CLN are neurodegenerative hereditary disorders of children and adolescents caused by mutations in CLN proteins. The functions of most CLN proteins are unknown. The ER membrane protein CLN6 has been identified as a cause of juvenile NCL and its involvement in growth processes in the Dorsal Root Ganglion, and a ...
Cramer, Thomas
openaire   +3 more sources

Characterisation of early changes in ovine CLN5 and CLN6 Batten disease neural cultures for the rapid screening of therapeutics

Neurobiology of Disease, 2017
Batten disease (neuronal ceroid lipofuscinosis) refers to a group of neurodegenerative lysosomal storage diseases predominantly affecting children. There are currently no effective treatments, and the functions of many of the associated gene products are
Hannah Best, Stephanie Hughes, Beulah Leitch   +2 more
exaly   +3 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

Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses [PDF]

Frontiers in Neurology, 2022
The neuronal ceroid lipofuscinoses (NCLs) are a group of childhood-onset neurodegenerative lysosomal storage disorders mainly affecting the brain and the retina.
Udo Bartsch, Stephan Storch
doaj   +2 more sources

Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment [PDF]

Frontiers in Neuroscience, 2022
Batten disease is unique among lysosomal storage disorders for the early and profound manifestation in the central nervous system, but little is known regarding potential neuron-specific roles for the disease-associated proteins.
Mitchell J. Rechtzigel, Brandon L. Meyerink, Brandon L. Meyerink, Hannah Leppert, Tyler B. Johnson, Jacob T. Cain, Gavin Ferrandino, Danielle G. May, Kyle J. Roux, Kyle J. Roux, Jon J. Brudvig, Jon J. Brudvig, Jill M. Weimer, Jill M. Weimer   +13 more
doaj   +2 more sources

Morphometric Brain Changes in a Merino Sheep (Ovis aries) CLN6 Neuronal Ceroid Lipofuscinosis Model

Biology
The neuronal ceroid lipofuscinoses are the most common group of human paediatric genetic neurodegenerative disorders and have also been reported in multiple animal species.
Amelia Nanni, Emma Elcombe, Maverick Ho Ming Cheung, Timothy Stait-Gardner, Marina Gimeno, Imke Tammen, Marianne D. Keller   +6 more
doaj   +2 more sources

Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6

Animal Genetics
AbstractNeuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative disorders that occur in humans, dogs, and several other species. NCL is characterised clinically by progressive deterioration of cognitive and motor function, epileptic seizures, and visual impairment.
Kim K. L. Bellamy, Fredrik S. Skedsmo, Josefin Hultman, Johan Høgset Jansen, Frode Lingaas   +4 more
openaire   +3 more sources