A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer [PDF]
Journal of Clinical Investigation, 2020 Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and transferred to the Golgi complex by interaction with the Batten disease protein CLN8 (ceroid lipofuscinosis, neuronal, 8). Here we investigated the relationship of this pathway with CLN6, an ER-associated protein of unknown function that is defective in a different Batten disease ...
Lakshya Bajaj +2 more
exaly +7 more sources
Tracking sex-dependent differences in a mouse model of CLN6-Batten disease
Orphanet Journal of Rare Diseases, 2019 Background CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, and phenotypically by loss of vision, motor coordination, and ...
McKayla J. Poppens +7 more
doaj +4 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 +4 more sources
Prevention of Photoreceptor Cell Loss in a Cln6 Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells [PDF]
Molecular Therapy, 2018 The neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage disorders characterized by general neurodegeneration and premature death. Sight loss is also a major symptom in NCLs, severely affecting the quality of life of patients, but it is not targeted effectively by brain-directed therapies.
Sophia-Martha Kleine Holthaus +2 more
exaly +6 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
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
Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in <i>CLN6</i>. [PDF]
Genes (Basel)A 23-month-old neutered male dog of unknown ancestry presented with a history of progressive neurological signs that included anxiety, cognitive impairment, tremors, seizure activity, ataxia, and pronounced visual impairment. The clinical signs were accompanied by global brain atrophy.
Mhlanga-Mutangadura T +3 more
europepmc +4 more sources
Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses [PDF]
Data in Brief, 2021 This article presents datasets associated with the research article entitled “Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease” (Murray et al., [1]). The neuronal ceroid lipofuscinoses (NCL;
Katharina N. Russell +4 more
doaj +5 more sources
Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis [PDF]
Biology Open, 2013 Summary Neuronal ceroid lipofuscinoses, the most common fatal childhood neurodegenerative illnesses, share many features with more prevalent neurodegenerative diseases. Neuronal ceroid lipofuscinoses are caused by mutations in CLN genes.
Katja M. Kanninen +9 more
doaj +2 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 +2 more sources