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.
Tetsuo Yamazaki, Kana Watanabe
exaly +5 more sources
An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation [PDF]
Caspian Journal of Neurological Sciences, 2023 Background: Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 different genes (CLN 1-14).
Shahin Koohmanaee +10 more
doaj +3 more sources
Natural history of retinal degeneration in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses [PDF]
Scientific Reports, 2022 Neuronal ceroid lipofuscinoses (NCL; Batten disease) are a group of inherited neurodegenerative diseases with a common set of symptoms including cognitive and motor decline and vision loss.
S. J. Murray, N. L. Mitchell
doaj +3 more sources
Molecular Therapy - Methods and Clinical Development, 2021 Batten disease is a family of rare, fatal, neuropediatric diseases presenting with memory/learning decline, blindness, and loss of motor function. Recently, we reported the use of an AAV9-mediated gene therapy that prevents disease progression in a mouse
Katherine White +2 more
exaly +4 more sources
Identification of CLN6 as a molecular entity of endoplasmic reticulum-driven anti-aggregate activity [PDF]
Biochemical and Biophysical Research Communications, 2017 αB-crystallin (αBC) is a small heat shock protein. Mutations in the αBC gene are linked to α-crystallinopathy, a hereditary myopathy histologically characterized by intracellular accumulation of protein aggregates. The disease-causing R120G αBC mutant, harboring an arginine-to-glycine replacement at position 120, is an aggregate-prone protein.
Tetsuo Yamazaki
exaly +4 more sources
Weak evidence for a relation between bipolar disorder and heterozygous ZNF92 and CLN6 variants [PDF]
Brazilian Journal of Psychiatry, 2023 1 Marazziti D, Di Nasso E, Masala I, Baroni S, Abelli M, Mengali F, et al. Normal and obsessional jealousy: a study of a population of young adults. Eur Psychiatry. 2003;18:106-11. 2 Batinic B, Duisin D, Barisic J.
Josef Finsterer +3 more
doaj +3 more sources
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 +8 more
doaj +3 more sources
Expanded Phenotype of the Cln6nclf Mouse Model [PDF]
CellsNeuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurogenetic disorders caused by mutations in 14 different genes. CLN6 disease manifests as variant late-infantile NCL (vLINCL) or as an adult variant.
Victoria Chaoul +7 more
doaj +2 more sources
Corrigendum to A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer [PDF]
The Journal of Clinical InvestigationLakshya Bajaj +15 more
doaj +3 more sources
A Flupirtine Benzyl Carbamate Improves Neurocognitive Deficits and Molecular Pathology in the Cln6nclf Mouse [PDF]
CellsNeuronal ceroid lipofuscinosis type 6 (CLN6) is a fatal, autosomal recessive neurodegenerative disorder characterized by cognitive/motor impairment, vision loss, as well as neuronal loss and gliosis in the brain, and premature death.
Victoria Chaoul +11 more
doaj +2 more sources