Results 31 to 40 of about 6,754 (244)
Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses
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
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Neuronal Ceroid Lipofuscinosis (Batten's Disease) [PDF]
Archives of Disease in Childhood, 1972 Four patients are described, who on clinical, histological, and biochemical criteria are considered to be suffering from neuronal ceroid lipofuscinosis. It is suggested that this may be the commonest condition included under the term amaurotic family idiocy.
N S, Gordon, H B, Marsden, M J, Noronha
openaire +2 more sources
Cardiac Involvement in Batten Disease
Pediatric Neurology Briefs, 2011 The onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease) are studied in 29 children and adolescents with genetically verified disease at Aarhus University Hospital, Skejby, Denmark.
J Gordon Millichap
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Mfsd8 Modulates Growth and the Early Stages of Multicellular Development in Dictyostelium discoideum
Frontiers in Cell and Developmental Biology, 2022 MFSD8 is a transmembrane protein that has been reported to transport chloride ions across the lysosomal membrane. Mutations in MFSD8 are associated with a subtype of Batten disease called CLN7 disease.
Shyong Quan Yap +3 more
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Advanced Science, EarlyView.ABSTRACT Brown and beige adipocytes dissipate energy as heat, yet effective strategies to enhance their mitochondrial efficiency remain limited. Here, we identify Agnuside (AGN) as a selective stabilizer of the complex I assembly factor NDUFAF6. AGN directly binds cytosolic NDUFAF6, suppresses its ubiquitination, prolongs its half‐life, and facilitates
Qingwen Zhao +7 more
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NMI Regulates Adipose Adaptive Thermogenesis Through TLR4/IRF3 Signaling to Promote Obesity
Advanced Science, EarlyView.Adipose tissue‐derived NMI is secreted under metabolic stress and suppresses adaptive thermogenesis through TLR4/IRF3 signaling, repressing the PPARα/PGC‐1α/UCP1 thermogenic transcriptional program. Genetic ablation or anti ‐ NMI monoclonal antibody treatment enhances energy expenditure, protects against DIO, and ameliorates adipose tissue inflammation,
Ting‐Ting Li +7 more
wiley +1 more source
The conserved cellular roles of CLN proteins: Novel insights from Dictyostelium discoideum
European Journal of Cell Biology, 2023 The neuronal ceroid lipofuscinoses (NCLs), collectively referred to as Batten disease, are a group of fatal neurodegenerative disorders that primarily affect children. The etiology of Batten disease is linked to mutations in 13 genes that encode distinct
Adam A.N. Remtulla, Robert J. Huber
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pH-dependent localization of Btn1p in the yeast model for Batten disease
Disease Models & Mechanisms, 2011 SUMMARY Btn1p the yeast homolog of human CLN3, which is associated with juvenile Batten disease has been implicated in several cellular pathways. Yeast cells lacking BTN1 are unable to couple ATP hydrolysis and proton pumping activities by the vacuolar ...
Devin M. Wolfe +3 more
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Placental Site Trophoblastic Tumor Acquires Immune Functions by Incorporating Host Maternal Genes
Advanced Science, EarlyView.PSTT cells, through cell fusion with B cells, incorporate abundant non‐inherited maternal genes that are detectable by DNIMA. These hybrid cells acquire immunotherapy‐resistant genetic changes and increase the expression of B cell‐derived immune‐related molecules such as Ig, HLA, LILRB, SIGLEC10, and so on, creating an immunotolerant environment around
Kyosuke Kagami +15 more
wiley +1 more source
Alpha-fetoprotein is an autoantigen in hepatocellular carcinoma and juvenile Batten disease
Frontiers in Bioscience-Landmark, 2020 Failure of immune tolerance leads to production of autoantibodies to self-antigens. The repertoire of autoantibodies detected in cancer patients can indicate the presence of autoimmune disease.
Roberto Bei, Gerald J. Mizejewski
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