Results 121 to 130 of about 2,322 (154)

Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease

Annals of Neurology, 2019
ObjectiveCLN3 disease is the commonest of the neuronal ceroid lipofuscinoses, a group of pediatric neurodegenerative disorders. Functions of the CLN3 protein include antiapoptotic properties and facilitating anterograde transport of galactosylceramide from Golgi to lipid rafts.
Sally El‐Sitt, Jihane Soueid, Katia Maalouf, Nadine Makhoul, Jamal Al Ali, Joelle Makoukji, Bilal Asser, Daniel Daou, Hayat Harati, Rose‐Mary Boustany   +9 more
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Mitochondrial abnormalities in CLN2 and CLN3 forms of batten disease

Molecular and Chemical Neuropathology, 1996
The storage of subunit c of mitochondrial ATP synthase, other hydrophobic peptides, and autofluorescent pigment in both late infantile (CLN2) and juvenile (CLN3) neuronal ceroid lipofuscinosis, but not in infantile (CLN1), has raised the question of abnormal mitochondrial function.
G, Dawson, J, Kilkus, A N, Siakotos, I, Singh   +3 more
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Novel morphological macular findings in juvenile CLN3 disease

British Journal of Ophthalmology, 2015
Juvenile CLN3 disease, one of the most common forms of a group of lysosomal storage diseases called neuronal ceroid lipofuscinoses (NCLs), is a progressive neurodegenerative disorder with initial visual deterioration. The objective of this study was to analyse the retinal phenotype of patients with CLN3 disease with the help of recent ophthalmic ...
S, Dulz, L, Wagenfeld, M, Nickel, G, Richard, R, Schwartz, U, Bartsch, A, Kohlschütter, A, Schulz   +7 more
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A yeast model for classical juvenile Batten disease(CLN3)

European Journal of Paediatric Neurology, 2001
The gene involved in the classical juvenile form of Batten disease, CLN3 has been identified as being highly homologous to the Saccharomyces cerevisiae YHC3 gene. To provide a simple model for the biochemical events underlying this disease, several disruptions have been made in YHC3 in three different S. cerevisiae strains.
K J, Barwell, M F, Broom
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Evidence for Phosphorylation of CLN3 Protein Associated with Batten Disease

Biochemical and Biophysical Research Communications, 1998
Recently, the CLN3 gene associated with Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL), a recessively inherited, progressive, neurodegenerative disorder of childhood, has been identified. The CLN3 gene encodes a novel protein (battenin) of a predicted 438 amino acids containing several potential posttranslational modifications.
M P, Michalewski, W, Kaczmarski, A A, Golabek, E, Kida, A, Kaczmarski, K E, Wisniewski   +5 more
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CLN3 disease: Juvenile Dementia

2019
Poster presentation at the Postgraduate Research Poster Competition held by the Graduate School at the Open University on 11th June 2019.
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Diagnostic confidence for CLN3 disease

Molecular Genetics and Metabolism, 2021
Margaux C. Masten, Amy Vierhile, Jennifer Vermilion, Heather Adams, Grace A. Zimmerman, Camille Corre, Jonathan W. Mink, Erika F. Augustine   +7 more
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Tissue Expression and Subcellular Localization of CLN3, the Batten Disease Protein

Molecular Genetics and Metabolism, 1999
Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a progressive neurologic disorder which results from mutations in the CLN3 gene, which normally produces a 48-kDa polypeptide of unknown function. To help characterize the CLN3 protein, we have studied its tissue distribution and subcellular localization in human tissues using three epitope ...
L R, Margraf, R L, Boriack, A A, Routheut, I, Cuppen, L, Alhilali, C J, Bennett, M J, Bennett   +6 more
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Cognitive test performance in CLN3 Disease is associated with the CLN3 Staging System (CLN3SS)

Summary CLN3 disease is an inherited neurodegenerative disease, typically with childhood onset, and characterized by vision loss, seizures, cognitive decline, and difficulties. The CLN3 Staging System (CLN3SS) characterizes disease progression.
Samuel D Moran, Erika F Augustine, Jonathan W Mink, Marianna Pereira-Freitas, Naomi S Taggart, Jennifer Vermilion, Amy E Vierhile, Heather R Adams   +7 more
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Genotype-phenotype associations in CLN3 disease

Molecular Genetics and Metabolism, 2021
Margaux C. Masten, Amy Vierhile, Jennifer Vermilion, Heather R. Adams, Erika F. Augustine, Jonathan W. Mink   +5 more
openaire   +1 more source