Results 91 to 100 of about 1,648 (197)
Reduction of metallothionein and synaptic proteins in CLN6 affected brain.
, 2013 (A) Occipital lobe homogenate from control and CLN6 affected sheep was immunoblotted with an antibody for metallothionein I/II and β–tubulin as loading control.
Katja M. Kanninen (144942) +13 more
core +1 more source
Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner [PDF]
Bioscience Reports, 2009 NCLs (neuronal ceroid lipofuscinoses), a group of inherited neurodegenerative lysosomal storage diseases that predominantly affect children, are the result of autosomal recessive mutations within one of the nine cln genes. The wild-type cln gene products are composed of membrane and soluble proteins that localize to the lysosome or the ER (endoplasmic ...
Kristina, Oresic +2 more
openaire +2 more sources
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. [PDF]
PLoS ONE, 2014 The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy.
Liliana Catherine Patiño +6 more
doaj +1 more source
Frontiers in Genetics, 2019 Neuronal Ceroid Lipofuscinoses (NCLs) are progressive degenerative diseases mainly affect brain and retina. They are characterized by accumulation of autofluorescent storage material, mitochondrial ATPase subunit C, or sphingolipid activator proteins A ...
Xiao-Tun Ren +8 more
doaj +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel +10 more
wiley +1 more source
Identification of a novel mutation in the CLN6 gene (CLN6) in South Hampshire sheep affected with Neuronal Ceroid Lipofuscinosis [PDF]
, 2016 Neuronal ceroid lipofuscinoses (NCL/Batten disease) are a group of fatal inherited neurodegenerative diseases that occur in many species including humans, sheep, dogs and cattle.
Mohd Ismail, Izmira Farhana
core
Traffic, Volume 26, Issue 7-9, July/September 2025.FGF signaling regulates lysosomal homeostasis in RCS chondrocytes by inducing TFEB/TFE3 nuclear translocation and activation. This promotes the expression of lysosomal genes and mannose 6‐phosphate receptors, enhancing lysosome biogenesis and lysosomal hydrolases delivery.
Laura Cinque +5 more
wiley +1 more source
PLoS ONE, 2015 Variant late-infantile Batten disease is a neuronal ceroid lipofuscinosis caused by mutations in CLN6. It is a recessive genetic lysosomal storage disease characterised by progressive neurodegeneration.
Stephen J Sawiak +9 more
doaj +1 more source
Mutant GFP-Cln6 is rapidly degraded by proteasomes.
, 2012 BHK cells overexpressing murine wild-type or mutant p.R103PfsX62 GFP-Cln6 (mut) were labelled for 24 hours with [35S]-methionine (75 µCi/ml) and either harvested or chased for 3 (lanes 1–4) and 24 hours (lanes 5–8) in the absence (–) or presence (+) of ...
Andrew M.S. Wong (170462) +7 more
core +1 more source
Prevention of Photoreceptor Cell Loss in a Cln6nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells [PDF]
, 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 ...
Rizzi, M +14 more
core +1 more source