Generierung monoklonaler Antikörper gegen das Protein CLN6 [PDF]
, 2017 Neuronal Ceroid Lipofuscinoses NCL /CLN are neurodegenerative hereditary disorders of children and adolescents caused by mutations in CLN proteins. The functions of most CLN proteins are unknown. The ER membrane protein CLN6 has been identified as a cause of juvenile NCL and its involvement in growth processes in the Dorsal Root Ganglion, and a ...
Cramer, Thomas
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Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology [PDF]
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2006 The CLN6 vLINCL is caused by molecular defects in CLN6 gene coding for an ER resident transmembrane protein whose function is unknown. In the present study gene expression profiling of CLN6-deficient fibroblasts using cDNA microarray was undertaken in order to provide novel insights into the molecular mechanisms underlying this neurodegenerative fatal ...
Teixeira, C.A.F. +8 more
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Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder [PDF]
Brazilian Journal of Psychiatry, 2023 Objective: Bipolar disorder is a heritable chronic mental disorder that causes psychosocial impairment through depressive/manic episodes. Familial transmission of bipolar disorder does not follow simple Mendelian patterns of inheritance. The aim of this
Flavia Privitera +12 more
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Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report [PDF]
Clinical Parkinsonism & Related DisordersNeuronal ceroid lipofuscinosis is a rare lysosomal storage disorder that is difficult to distinguish from other diseases with similar clinical symptoms in its early stages.
Yubo Hu +5 more
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Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis. [PDF]
PLoS ONE, 2013 Mutations in the CLN6 gene cause a variant late infantile form of neuronal ceroid lipofuscinosis (NCL; Batten disease). CLN6 loss leads to disease clinically characterized by vision impairment, motor and cognitive dysfunction, and seizures.
Katja M Kanninen +13 more
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Morphometric Brain Changes in a Merino Sheep (Ovis aries) CLN6 Neuronal Ceroid Lipofuscinosis Model [PDF]
BiologyThe neuronal ceroid lipofuscinoses are the most common group of human paediatric genetic neurodegenerative disorders and have also been reported in multiple animal species.
Amelia Nanni +6 more
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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.
Kleine Holthaus, Sophia-Martha +14 more
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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
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Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 [PDF]
The American Journal of Human Genetics, 2011 The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to neurons and can require a brain biopsy or autopsy for final ...
Arsov T +21 more
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Single-cell and machine learning integration reveals ferroptosis-driven immune landscapes for melanoma stratification [PDF]
Frontiers in ImmunologyBackgroundFerroptosis, a regulated form of cell death, has emerged as a critical modulator of melanoma's tumor progression and immune evasion. However, its integration with the tumor immune microenvironment (TME) and clinical prognostication remains ...
Lei Wang +5 more
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