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Bipolar cell-specific expression of CLN6 slowed significantly the loss of photoreceptor function and photoreceptor cells. This study shows that the deficiency of a gene normally expressed in bipolar cells can cause the loss of photoreceptors and that this can be prevented by bipolar cell-directed treatment.
Data indicate that ceroid-lipofuscinosis, neuronal 6 protein Cln6(nclf) mutation leads to deficits in motor coordination, vision, memory, and learning.
These findings implicate Cln6 in the survival and maturation of specific neuronal populations during development and make it possible to compare regional Cln6 expression with the distribution of subsequent pathology.
Data show a progressive breakdown of axons and synapses in the brains of two different models of NCL: Ppt1(-/-) model of infantile NCL and Cln6(nclf) model of variant late-infantile NCL.
We concluded that alterations in neurite maturation resulting from a loss of CLN6-CRMP-2 interaction may contribute to neuronal dysfunction and pathology in vLINCL.
Clinical distinction of type A (progressive myoclonus epilepsy) and type B (dementia with motor disturbance) Kufs disease was supported by molecular diagnoses. Type A is usually caused by recessive pathogenic variants in CLN6 or dominant variants in DNAJC5. Type B Kufs is usually associated with recessive CTSF pathogenic variants.
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment
The CLN6 is not only a molecular entity of the anti-aggregate activity conferred by the ER manipulation using TMalphaBC, but also serves as a potential target of therapeutic interventions.
describe the spectrum of clinical and neurophysiologic features associated with mutations of CLN6.
study demonstrates the central role of the metal transporter, Zip7, in the aberrant biometal metabolism of CLN6 variants of Neuronal ceroid lipofuscinoses.
The study describes the first report in the North of Morocco of the CLN6 p.I154del mutation in 3 patients belonging to a large consanguineous family.
our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy
CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival.
Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy.
Expression studies of three mutations found in CLN6 patients predicted to affect transmembrane domain 3, cytoplasmic loop 2 or result in a truncated membrane protein respectively, is reported.
gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes neuronal ceroid lipofuscinosis in mouse and man
Eight novel mutations identified in CLN6 in 26 families with late infantile neuronal ceroid lipofuscinosis.
ER-resident CLN6 protein lead to lysosomal dysfunctions, which may result in lysosomal accumulation of storage material
CLN6 is an ER resident protein, the activity of which, despite this location, must contribute to lysosomal function.
These data indicate that CLN6 mutations, in addition to those of CLN8, should be considered a diagnostic alternative in Turkish variant late-infantile neuronal ceroid lipofuscinosis patients.
Cholesterol accumulation in lysosomes suggests a homeostasis block as a result of CLN6p deficiency, while dysfunctional endosomal/lysosomal vesicles may act as one of the triggers for apoptosis and cell death.
CLN6 maintains its endoplasmic reticulum localization by expressing retention signals present in both the N-terminal cytosolic domain and in the carboxy-proximal transmembrane domains 6 and 7.
knockdown of SEL1L [sel-1 suppressor of lin-12-like (Caenorhabditis elegans)], a member of an E3 ubiquitin ligase complex involved in ER protein extraction, rescued significant amounts of Cln6(G123D) and Cln6(M241T) polypeptides.
11 mutations in patients with neuronal ceroid lipofuscinoses, eight of which are novel, were detected in CLN6, all predicting a direct impairing of the putative gene function.
The candidate genes for bovine Neuronal Ceroid Lipofuscinosis, CLN3, CLN5 and CLN6, have been mapped to facilitate linkage analysis in cattle and sheep.
This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.
neuronal ceroid lipofuscinosis
, ceroid-lipofuscinosis neuronal protein 6
, ceroid-lipofuscinosis neuronal protein 6 homolog