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https://www.readbyqxmd.com/read/28506594/fingolimod-and-teriflunomide-attenuate-neurodegeneration-in-mouse-models-of-neuronal-ceroid-lipofuscinosis
#1
Janos Groh, Kristina Berve, Rudolf Martini
CLN diseases are rare lysosomal storage diseases characterized by progressive axonal degeneration and neuron loss in the CNS, manifesting in disability, blindness, and premature death. We have previously demonstrated that, in animal models of infantile and juvenile forms of CLN disease (CLN1 and CLN3, respectively), secondary neuroinflammation in the CNS substantially amplifies neural damage, opening the possibility that immunomodulatory treatment might improve disease outcome. First, we recapitulated the inflammatory phenotype, originally seen in mice in autopsies of CLN patients...
May 13, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28494083/phosphate-from-stardust-to-eukaryotic-cell-cycle-control
#2
Javier Jiménez, Samuel Bru, Mariana Pc Ribeiro, Josep Clotet
Phosphorus is a pivotal element in all biochemical systems: it serves to store metabolic energy as ATP, it forms the backbone of genetic material such as RNA and DNA, and it separates cells from the environment as phospholipids. In addition to this "big hits", phosphorus has recently been shown to play an important role in other important processes such as cell cycle regulation. In the present review, we briefly summarize the biological processes in which phosphorus is involved in the yeast Saccharomyces cerevisiae before discussing our latest findings on the role of this element in the regulation of DNA replication in this eukaryotic model organism...
September 2016: International Microbiology: the Official Journal of the Spanish Society for Microbiology
https://www.readbyqxmd.com/read/28438074/the-value-of-metaphorical-reasoning-in-bioethics-an-empirical-ethical-study
#3
Erik Olsman, Bert Veneberg, Claudia van Alfen, Dorothea Touwen
BACKGROUND: Metaphors are often used within the context of ethics and healthcare but have hardly been explored in relation to moral reasoning. OBJECTIVE: To describe a central set of metaphors in one case and to explore their contribution to moral reasoning. METHOD: Semi-structured interviews were conducted with 16 parents of a child suffering from the neurodegenerative disease CLN3. The interviews were recorded, transcribed, and metaphors were analyzed...
January 1, 2017: Nursing Ethics
https://www.readbyqxmd.com/read/28390177/role-of-the-lysosomal-membrane-protein-cln3-in-the-regulation-of-cathepsin-d-activity
#4
Jaime Cárcel-Trullols, Attila D Kovács, David A Pearce
Among Neuronal Ceroid Lipofuscinoses (NCLs), which are childhood fatal neurodegenerative disorders, the juvenile onset form (JNCL) is the most common. JNCL is caused by recessive mutations in the CLN3 gene. CLN3 encodes a lysosomal/endosomal transmembrane protein but its precise function is not completely known. We have previously reported that in baby hamster kidney (BHK) cells stably expressing myc-tagged human CLN3 (myc-CLN3), hyperosmotic conditions drastically increased myc-CLN3 mRNA and protein expression...
April 8, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28365442/loss-of-cln3-impacts-protein-secretion-in-the-social-amoeba-dictyostelium
#5
Robert J Huber
Neuronal ceroid lipofuscinosis (NCL), also referred to as Batten disease, is the most common form of childhood neurodegeneration. Mutations in CLN3 cause the most prevalent subtype of the disease, which manifests during early childhood and is currently untreatable. The precise function of the CLN3 protein is still not known, which has inhibited the development of targeted therapies. In the social amoeba Dictyostelium discoideum, loss of the CLN3 homolog, Cln3, reduces adhesion during early development, which delays streaming and aggregation...
March 29, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28365214/in-vivo-localization-of-the-neuronal-ceroid-lipofuscinosis-proteins-cln3-and-cln7-at-endogenous-expression-levels
#6
Alamin Mohammed, Megan B O'Hare, Alice Warley, Guy Tear, Richard I Tuxworth
The neuronal ceroid lipofuscinoses are a group of recessively inherited, childhood-onset neurodegenerative conditions. Several forms are caused by mutations in genes encoding putative lysosomal membrane proteins. Studies of the cell biology underpinning these disorders are hampered by the poor antigenicity of the membrane proteins, which makes visualization of the endogenous proteins difficult. We have used Drosophila to generate knock-in YFP-fusions for two of the NCL membrane proteins: CLN7 and CLN3. The YFP-fusions are expressed at endogenous levels and the proteins can be visualized live without the need for overexpression...
March 29, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28289726/regulation-of-the-candida-albicans-hypha-inducing-transcription-factor-ume6-by-the-cdk1-cyclins-cln3-and-hgc1
#7
Sigal Mendelsohn, Mariel Pinsky, Ziva Weissman, Daniel Kornitzer
The ability to switch between proliferation as yeast cells and development into hyphae is a hallmark of Candida albicans. The switch to hyphal morphogenesis depends on external inducing conditions, but its efficiency is augmented in stationary-phase cells. Ume6, a transcription factor that is itself transcriptionally induced under hypha-promoting conditions, is both necessary and sufficient for hyphal morphogenesis. We found that Ume6 is regulated posttranslationally by the cell cycle kinase Cdc28/Cdk1, which reduces Ume6 activity via different mechanisms using different cyclins...
March 2017: MSphere
https://www.readbyqxmd.com/read/28042098/age-dependent-alterations-in-neuronal-activity-in-the-hippocampus-and-visual-cortex-in-a-mouse-model-of-juvenile-neuronal-ceroid-lipofuscinosis-cln3
#8
Maria Burkovetskaya, Nikolay Karpuk, Tammy Kielian
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by autosomal recessive mutations in CLN3. JNCL is typified by progressive neurodegeneration that has been suggested to occur from excessive excitatory and impaired inhibitory synaptic input; however, no studies to date have directly evaluated neuronal function. To examine changes in neuronal activity with advancing disease, electrophysiological recordings were performed in the CA1 hippocampus (HPC) and visual cortex (VC) of acute brain slices from Cln3(Δex7/8) mice at 1, 4, 8, and 12months of age...
December 30, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28030792/genomic-expression-differences-between-cutaneous-cells-from-red-hair-color-individuals-and-black-hair-color-individuals-based-on-bioinformatic-analysis
#9
Joan Anton Puig-Butille, Pol Gimenez-Xavier, Alessia Visconti, Jérémie Nsengimana, Francisco Garcia-García, Gemma Tell-Marti, Maria José Escamez, Julia Newton-Bishop, Veronique Bataille, Marcela Del Río, Joaquín Dopazo, Mario Falchi, Susana Puig
The MC1R gene plays a crucial role in pigmentation synthesis. Loss-of-function MC1R variants, which impair protein function, are associated with red hair color (RHC) phenotype and increased skin cancer risk. Cultured cutaneous cells bearing loss-of-function MC1R variants show a distinct gene expression profile compared to wild-type MC1R cultured cutaneous cells. We analysed the gene signature associated with RHC co-cultured melanocytes and keratinocytes by Protein-Protein interaction (PPI) network analysis to identify genes related with non-functional MC1R variants...
February 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/27881166/using-the-social-amoeba-dictyostelium-to-study-the-functions-of-proteins-linked-to-neuronal-ceroid-lipofuscinosis
#10
REVIEW
Robert J Huber
Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, is a debilitating neurological disorder that affects both children and adults. Thirteen genetically distinct genes have been identified that when mutated, result in abnormal lysosomal function and an excessive accumulation of ceroid lipofuscin in neurons, as well as other cell types outside of the central nervous system. The NCL family of proteins is comprised of lysosomal enzymes (PPT1/CLN1, TPP1/CLN2, CTSD/CLN10, CTSF/CLN13), proteins that peripherally associate with membranes (DNAJC5/CLN4, KCTD7/CLN14), a soluble lysosomal protein (CLN5), a protein present in the secretory pathway (PGRN/CLN11), and several proteins that display different subcellular localizations (CLN3, CLN6, MFSD8/CLN7, CLN8, ATP13A2/CLN12)...
November 24, 2016: Journal of Biomedical Science
https://www.readbyqxmd.com/read/27804148/efficacy-of-phosphodiesterase-4-inhibitors-in-juvenile-batten-disease-cln3
#11
Amy Aldrich, Megan E Bosch, Rachel Fallet, Jessica Odvody, Maria Burkovetskaya, Kakulavarapu V Rama Rao, Jonathan D Cooper, Arlene V Drack, Tammy Kielian
OBJECTIVE: Juvenile neuronal ceroid lipofuscinosis (JNCL), or juvenile Batten disease, is a pediatric lysosomal storage disease caused by autosomal recessive mutations in CLN3, typified by blindness, seizures, progressive cognitive and motor decline, and premature death. Currently, there is no treatment for JNCL that slows disease progression, which highlights the need to explore novel strategies to extend the survival and quality of life of afflicted children. Cyclic adenosine monophosphate (cAMP) is a second messenger with pleiotropic effects, including regulating neuroinflammation and neuronal survival...
December 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27766444/flunarizine-rescues-reduced-lifespan-in-cln3-triple-knock-out-caenorhabditis-elegans-model-of-batten-disease
#12
Young Joon Kwon, Marni J Falk, Michael J Bennett
CLN3 disease (Spielmeyer-Vogt-Sjogren-Batten disease, previously known as classic juvenile neuronal ceroid lipofuscinosis, NCL) is a pediatric-onset progressive neurodegenerative disease characterized by progressive vision loss, seizures, loss of cognitive and motor function, and early death. While no precise biochemical mechanism or therapies are known, the pathogenesis of CLN3 disease involves intracellular calcium accumulation that may trigger apoptosis. Our prior work in in vitro cell models of CLN3 deficiency suggested that FDA-approved calcium channel antagonists may have therapeutic value...
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27707786/chemo-genetic-interactions-between-histone-modification-and-the-antiproliferation-drug-aicar-are-conserved-in-yeast-and-humans
#13
Delphine Albrecht, Johanna Ceschin, Jim Dompierre, Florian Gueniot, Benoît Pinson, Bertrand Daignan-Fornier
Identifying synthetic lethal interactions has emerged as a promising new therapeutic approach aimed at targeting cancer cells directly. Here, we used the yeast Saccharomyces cerevisiae as a simple eukaryotic model to screen for mutations resulting in a synthetic lethality with 5-amino-4-imidazole carboxamide ribonucleoside (AICAR) treatment. Indeed, AICAR has been reported to inhibit the proliferation of multiple cancer cell lines. Here, we found that loss of several histone-modifying enzymes, including Bre1 (histone H2B ubiquitination) and Set1 (histone H3 lysine 4 methylation), greatly enhanced AICAR inhibition on growth via the combined effects of both the drug and mutations on G1 cyclins...
December 2016: Genetics
https://www.readbyqxmd.com/read/27669405/aberrant-adhesion-impacts-early-development-in-a-dictyostelium-model-for-juvenile-neuronal-ceroid-lipofuscinosis
#14
Robert J Huber, Michael A Myre, Susan L Cotman
Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, refers to a group of severe neurodegenerative disorders that primarily affect children. The most common subtype of the disease is caused by loss-of-function mutations in CLN3, which is conserved across model species from yeast to human. The precise function of the CLN3 protein is not known, which has made targeted therapy development challenging. In the social amoeba Dictyostelium discoideum, loss of Cln3 causes aberrant mid-to-late stage multicellular development...
September 26, 2016: Cell Adhesion & Migration
https://www.readbyqxmd.com/read/27635612/-mutation-del-1-02kb-in-the-cln3-gene-and-extrapyramidal-syndrome
#15
E P Nuzhnyi, A F Yakimovsky, A A Timofeeva, T S Usenko, M A Nikolaev, A K Emel'yanov, V I Amosov, E V Bubnova, A M Bukina, E Yu Zakharova, S N Pchelina
Mutations in the GBA and SMPD1 genes, which lead to the development of lysosomal storage diseases, are high risk factors for Parkinson's disease and dementia with Lewy bodies. We screened the mutations in the GALC and CLN3 genes in patients with Parkinson's disease and control subjects. A heterozygous CLN3 mutation (del 1.02 kb) carrier with clinical features of the unusual extrapyramidal syndrome was identified. A role of CLN3 mutations in the development of neurodegenerative disorders is discussed.
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27629717/self-complementary-aav9-gene-delivery-partially-corrects-pathology-associated-with-juvenile-neuronal-ceroid-lipofuscinosis-cln3
#16
Megan E Bosch, Amy Aldrich, Rachel Fallet, Jessica Odvody, Maria Burkovetskaya, Kaitlyn Schuberth, Julie A Fitzgerald, Kevin D Foust, Tammy Kielian
UNLABELLED: Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by autosomal-recessive mutations in CLN3 for which no treatment exists. Symptoms appear between 5 and 10 years of age, beginning with blindness and seizures, followed by progressive cognitive and motor decline and premature death (late teens to 20s). We explored a gene delivery approach for JNCL by generating two self-complementary adeno-associated virus 9 (scAAV9) constructs to address CLN3 dosage effects using the methyl-CpG-binding protein 2 (MeCP2) and β-actin promoters to drive low versus high transgene expression, respectively...
September 14, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27585592/loss-of-the-sumo-protease-ulp2-triggers-a-specific-multichromosome-aneuploidy
#17
Hong-Yeoul Ryu, Nicole R Wilson, Sameet Mehta, Soo Seok Hwang, Mark Hochstrasser
Post-translational protein modification by the small ubiquitin-related modifier (SUMO) regulates numerous cellular pathways, including transcription, cell division, and genome maintenance. The SUMO protease Ulp2 modulates many of these SUMO-dependent processes in budding yeast. From whole-genome RNA sequencing (RNA-seq), we unexpectedly discovered that cells lacking Ulp2 display a twofold increase in transcript levels across two particular chromosomes: chromosome I (ChrI) and ChrXII. This is due to the two chromosomes being present at twice their normal copy number...
August 15, 2016: Genes & Development
https://www.readbyqxmd.com/read/27553520/analysis-of-large-scale-whole-exome-sequencing-data-to-determine-the-prevalence-of-genetically-distinct-forms-of-neuronal-ceroid-lipofuscinosis
#18
David E Sleat, Erika Gedvilaite, Yeting Zhang, Peter Lobel, Jinchuan Xing
The neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, mostly recessive neurodegenerative lysosomal storage diseases. While clinically similar, they are genetically distinct and result from mutations in at least twelve different genes. Estimates of NCL incidence range from 0.6 to 14 per 100,000 live births but vary widely between populations and are influenced by whether patients are classified based upon clinical or genetic criteria. We investigated mutations in twelve NCL genes in ~61,000 individuals represented in the Exome Aggregation Consortium (ExAC) whole exome sequencing database...
November 30, 2016: Gene
https://www.readbyqxmd.com/read/27508227/data-on-characterizing-the-gene-expression-patterns-of-neuronal-ceroid-lipofuscinosis-genes-cln1-cln2-cln3-cln5-and-their-association-to-interneuron-and-neurotransmission-markers-parvalbumin-and-somatostatin
#19
Helena M Minye, Anna-Liisa Fabritius, Jouni Vesa, Leena Peltonen
The article contains raw and analyzed data related to the research article "Neuronal ceroid lipofuscinosis genes, CLN2, CLN3, CLN5 are spatially and temporally co-expressed in a developing mouse brain" (Fabritius et al., 2014) [1]. The processed data gives an understanding of the development of the cell types that are mostly affected by defective function of CLN proteins, timing of expression of CLN1, CLN2, CLN3 and CLN5 genes in a murine model. The data shows relationship between the expression pattern of these genes during neural development...
September 2016: Data in Brief
https://www.readbyqxmd.com/read/27491213/juvenile-ncl-cln3-disease-emerging-disease-modifying-therapeutic-strategies
#20
REVIEW
Erika F Augustine, Jonathan W Mink
Abstract Juvenile Neuronal Ceroid Lipofuscinosis is a lysosomal storage disease characterized pathologically by intracellular accumulation of autofluorescent storage material and neurodegeneration. Caused by mutations in the CLN3 gene on chromosome 16p12, the precise functions of the encoded protein remain unclear. Yet, recent preclinical discovery has established new therapeutic targets in development, including immunosuppressants, anti-inflammatories, and gene replacement therapies. Development of robust clinical trial endpoints appropriate for this poly-symptomatic disease, clinical trial design optimized for small samples, and adequate and efficient participant recruitment are challenges that lay ahead...
June 2016: Pediatric Endocrinology Reviews: PER
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