Results 71 to 80 of about 1,776 (152)

Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1) – distinct characteristics in neurons

BMC Cell Biology, 2007
Background Neuronal ceroid lipofuscinoses (NCLs) are collectively the most common type of recessively inherited childhood encephalopathies. The most severe form of NCL, infantile neuronal ceroid lipofuscinosis (INCL), is caused by mutations in the CLN1 ...
Jauhiainen Matti, Saarela Jani, Kopra Outi, Salonen Tarja, von Schantz Carina, Lyly Annina, Kyttälä Aija, Jalanko Anu   +7 more
doaj   +1 more source

Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations

Stem Cell Research
The neuronal ceroid lipofuscinoses (NCLs) are a group of common inherited neurodegenerative disorders of childhood. All forms of NCLs are life-limiting with no curative treatments.
Marisa Ofrim, Daniel Little, Mina Nazari, Christopher J. Minnis, Michael J. Devine, Sara E. Mole, Paul Gissen, Maëlle Lorvellec   +7 more
doaj   +1 more source

Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from Southern Brazil Lipofuscinoses ceróides neuronais: estudo clínico e morfológico de 17 pacientes do Sul do Brasil

Arquivos de Neuro-Psiquiatria, 2000
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood.
ANA CRISTINA S PUGA, LAURA B JARDIM, LEILA CHIMELLI, CAROLINA F M DE SOUZA, MARTA CLIVATI   +4 more
doaj   +1 more source

Refractory hyperactivity and Batten's disease – A Case Report

Archives of Mental Health, 2016
Attention deficit hyperactivity disorder (ADHD) is a psychiatric disorder of neurodevelopmental type characterized by inattentiveness, hyperactivity and impulsiveness.
Narayan R Mutalik, Vinayak Koparde, Devaraddi Navalli   +2 more
doaj  

[Neuronal ceroid lipofuscinoses].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2006
Neuronal ceroid lipofuscinoses (NCL) is a group of degenerative neurological diseases. The diseases are autosomally recessively inherited and are characterized by the accumulation of fluorescent ceroid and lipofuscin in neuronal cells in the brain and in extraneuronal cells.
Liv Berit, Augestad, Jørgen, Diderichsen   +1 more
openaire   +1 more source

Trehalose Ameliorates Zebrafish Emotional and Social Deficits Caused by CLN8 Dysfunction

Cells
CLN8 and other neuronal ceroid lipofuscinoses (NCLs) often lead to cognitive decline, emotional disturbances, and social deficits, worsening with disease progression.
Rosario Licitra, Stefania Della Vecchia, Lorenzo Santucci, Rachele Vivarelli, Sara Bernardi, Filippo M. Santorelli, Maria Marchese   +6 more
doaj   +1 more source

Cln5-deficiency in mice leads to microglial activation, defective myelination and changes in lipid metabolism

Neurobiology of Disease, 2012
CLN5 disease, late infantile variant phenotype neuronal ceroid lipofuscinosis, is a severe neurodegenerative disease caused by mutations in the CLN5 gene, which encodes a lysosomal protein of unknown function.
Mia-Lisa Schmiedt, Tea Blom, Tomas Blom, Outi Kopra, Andrew Wong, Carina von Schantz-Fant, Elina Ikonen, Mervi Kuronen, Matti Jauhiainen, Jonathan D. Cooper, Anu Jalanko   +10 more
doaj   +1 more source

Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses. [PDF]

Autophagy, 2023
Wang Y, Wang H, Wang C.
europepmc   +1 more source

Molecular and cellular processes underlying Unverricht-Lundborg disease—prospects for early interventions and a cure

Exploration of Neuroscience
A short overview of the main features of progressive myoclonus epilepsies (PMEs), such as Lafora disease (LD), neuronal ceroid lipofuscinoses (NCLs), and myoclonus epilepsy with ragged-red fibers (MERRF) is given.
Eva Žerovnik
doaj   +1 more source

KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses. [PDF]

Sci Adv, 2022
Wang Y, Cao X, Liu P, Zeng W, Peng R, Shi Q, Feng K, Zhang P, Sun H, Wang C, Wang H.   +10 more
europepmc   +1 more source