Results 81 to 90 of about 1,359 (178)
Journal of Diabetes, Volume 17, Issue 4, April 2025.ABSTRACT Aims Lifestyle‐induced weight loss (LIWL) is considered an effective therapy for the treatment of metabolic syndrome (MetS). The role of differentially expressed genes (DEGs) in adipose tissue function and in the success of LIWL in MetS is still unclear.
Silke Zimmermann +18 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
Enhanced expression of manganese-dependent superoxide dismutase in human and ovine CLN6 tissues
, 2003 Neuronal ceroid lipofuscinosis type 6 and its sheep model (OCL6) are lysosomal storage disorders caused by mutations in the CLN6 gene product of unknown function.
Tyynela, J +6 more
core +1 more source
, 2021 The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive lysosomal storage disorders that are characterized by neurodegeneration, progressive cognitive decline, motor impairment, ataxia, loss of vision ...
Savvas S. Papacostas (6489914) +6 more
core +1 more source
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses
JIMD Reports, 2019 Background Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the CLN genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the CLN ...
Abdulhakim Jilani +8 more
doaj +1 more source
Cross–regulation of CLN5 and CLN6 gene expression in ovine Batten disease models
, 2017 Sheep with naturally occurring CLN5 and CLN6 forms of Batten disease (neuronal ceroid lipofuscinoses, NCLs) are studied as models of the human diseases.
Palmer, DN, Chen, J, Mitchell, Nadia
core
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
Decreased dendritic spine density in the mature cortex of Cln6nclf mice.
, 2013 Golgi impregnation was used to label dendritic spines on the primary dendrite of excitatory cortical projection neurons in age-matched 2 month controls (A) and Cln6nclf (B) mice.
Helen Magee (479018) +6 more
core +1 more source
The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients
Molecular Genetics and Metabolism Reports, 2017 Lysosomal diseases (LD) comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manifestations.
Filippo Pinto Vairo +11 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues.
Anastasiya A. Kozina +15 more
doaj +1 more source