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https://www.readbyqxmd.com/read/29873075/caspase-1-activity-influences-juvenile-batten-disease-cln3-pathogenesis
#1
Maria Burkovetskaya, Megan E Bosch, Nikolay Karpuk, Rachel Fallet, Tammy Kielian
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is an autosomal recessive lysosomal storage disease caused by loss-of-function mutations in CLN3. Symptoms appear between 5-10 years of age, beginning with blindness and seizures, followed by progressive cognitive and motor decline, and premature death. Glial activation and impaired neuronal activity are early signs of pathology in the Cln3Δex7/8 mouse model of JNCL, whereas neuron death occurs much later in the disease process. We previously reported that Cln3Δex7/8 microglia are primed towards a pro-inflammatory phenotype typified by exaggerated caspase-1 inflammasome activation and here we extend those findings to demonstrate heightened caspase activity in the Cln3Δex7/8 mouse brain...
June 5, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29850086/crystal-structure-and-hirshfeld-surface-analysis-of-4-2-chloro-phen-yl-1-methyl-3-phenyl-7-8-di-hydro-5-h-di-spiro-indoline-3-2-pyrrolidine-3-6-iso-quinoline-2-5-dione
#2
R Vishnupriya, C Selva Meenatchi, J Suresh, R V Sumesh, R Ranjith Kumar, P L Nilantha Lakshman
In the title di-spiro compound, C32 H26 ClN3 O2 , the cyclo-hexa-none ring of the iso-quinoline unit has a distorted envelope conformation, with the methyl-ene C atom adjacent to the spiro C atom as the flap. The central 1-methyl-pyrrolidine ring has an envelope conformation with the N atom as the flap. The mean planes of the indolin-2-one ring system, the chloro-benzene ring and the iso-quinoline ring system are inclined to the mean plane of the central 1-methyl-pyrrolidine ring by 87.95 (11), 71.01 (12) and 88...
May 1, 2018: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/29780879/altered-cerebellar-short-term-plasticity-but-no-change-in-postsynaptic-ampa-type-glutamate-receptors-in-a-mouse-model-of-juvenile-batten-disease
#3
Dorota Studniarczyk, Elizabeth L Needham, Hannah M Mitchison, Mark Farrant, Stuart G Cull-Candy
Juvenile Batten disease is the most common progressive neurodegenerative disorder of childhood. It is associated with mutations in the CLN3 gene, causing loss of function of CLN3 protein and degeneration of cerebellar and retinal neurons. It has been proposed that changes in granule cell AMPA-type glutamate receptors (AMPARs) contribute to the cerebellar dysfunction. In this study, we compared AMPAR properties and synaptic transmission in cerebellar granule cells from wild-type and Cln3 knock-out mice. In Cln3 Δ ex1-6 cells, the amplitude of AMPA-evoked whole-cell currents was unchanged...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29776932/-cg-med3-affects-cell-size-and-budding-index-to-coordinate-candida-glabrata-cell-growth
#4
Hui Liu, Lulin Kong, Yanli Qi, Xiulai Chen, Liming Liu
Candida glabrata is a promising microorganism for the production of organic acids. Here, we report deletion and quantitative expression approaches to elucidate the role of Cg Med3AB, a subunit of the mediator transcriptional co-activator, in regulating cell growth. Deletion of Cg Med3AB caused an 8.6% decrease in final biomass based on growth curve plots and 10.5% lower cell viability. Based on transcriptomics data, the reason for this growth defect was attributable to changes in expression of genes involved in pyruvate and acetyl-CoA-related metabolism in the Cgmed3abΔ strain...
May 18, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29753273/generation-of-an-induced-pluripotent-stem-cell-line-from-a-patient-with-non-syndromic-cln3-associated-retinal-degeneration-and-a-coisogenic-control-line
#5
Xiao Zhang, Dan Zhang, Shang-Chih Chen, Tina Lamey, Jennifer A Thompson, Terri McLaren, John N De Roach, Fred K Chen, Samuel McLenachan
We report the generation of the human iPSC line LEIi004-A from a patient with late-onset non-syndromic retinitis pigmentosa caused by compound heterozygous mutations in the CLN3 gene. Reprogramming of primary dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA. To create a coisogenic control line, one CLN3 variant was corrected in the patient-iPSC using CRISPR/Cas9 gene editing to generate the iPSC line LEIi004-A-1.
May 1, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29721970/further-characterization-of-the-predominant-inner-retinal-degeneration-of-aging-cln3-%C3%AE-ex7-8-knock-in-mice
#6
Cornelia Volz, Myriam Mirza, Thomas Langmann, Herbert Jägle
Neuronal ceroid lipofuscinosis (NCL) is the most common group of neurogenetic storage diseases typically beginning in childhood. The juvenile form (JNCL), also known as Batten disease, is the most common form. Vision-related problems are often an early sign, appearing prior to motor and mental deficits. We have previously investigated disease progression with age in the Cln3 Δex7/8 KI mouse model for JNCL and showed a decline of visual acuity and a predominant decline of the inner retinal function in mice, similar to human disease...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29660499/modulating-membrane-fluidity-corrects-batten-disease-phenotypes-in-vitro-and-in-vivo
#7
Mark L Schultz, Luis Tecedor, Elena Lysenko, Shyam Ramachandran, Colleen S Stein, Beverly L Davidson
The neuronal ceroid lipofuscinoses are a class of inherited neurodegenerative diseases characterized by the accumulation of autofluorescent storage material. The most common neuronal ceroid lipofuscinosis has juvenile onset with rapid onset blindness and progressive degeneration of cognitive processes. The juvenile form is caused by mutations in the CLN3 gene, which encodes the protein CLN3. While mouse models of Cln3 deficiency show mild disease phenotypes, it is apparent from patient tissue- and cell-based studies that its loss impacts many cellular processes...
July 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29470438/altered-expression-of-ganglioside-metabolizing-enzymes-results-in-gm3-ganglioside-accumulation-in-cerebellar-cells-of-a-mouse-model-of-juvenile-neuronal-ceroid-lipofuscinosis
#8
Aleksandra Somogyi, Anton Petcherski, Benedikt Beckert, Mylene Huebecker, David A Priestman, Antje Banning, Susan L Cotman, Frances M Platt, Mika O Ruonala, Ritva Tikkanen
Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene. Most JNCL patients exhibit a 1.02 kb genomic deletion removing exons 7 and 8 of this gene, which results in a truncated CLN3 protein carrying an aberrant C-terminus. A genetically accurate mouse model ( Cln3 Δex7/8 mice) for this deletion has been generated. Using cerebellar precursor cell lines generated from wildtype and Cln3 Δex7/8 mice, we have here analyzed the consequences of the CLN3 deletion on levels of cellular gangliosides, particularly GM3, GM2, GM1a and GD1a...
February 22, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29392585/timing-of-cognitive-decline-in-cln3-disease
#9
Willemijn F E Kuper, Claudia van Alfen, Roeliene H Rigterink, Sabine A Fuchs, Maria M van Genderen, Peter M van Hasselt
BACKGROUND: CLN3 disease is a major cause of childhood neurodegeneration. Onset of visual failure around 6 years of age is thought to precede cognitive deterioration by a few years, but casuistic reports question this paradigm. The aim of our study is to delineate timing of cognitive decline in CLN3 disease. METHODS: Early neurocognitive functioning in CLN3 disease was analyzed using age at onset of visual and cognitive decline and IQ scores from literature-derived patient descriptions, supplemented with IQ scores and school history from a retrospective referral center cohort...
March 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29234488/sirt6-histone-deacetylase-functions-as-a-potential-oncogene-in-human-melanoma
#10
Liz Mariely Garcia-Peterson, Mary Ann Ndiaye, Chandra K Singh, Gagan Chhabra, Wei Huang, Nihal Ahmad
Melanoma is an aggressive skin cancer that can rapidly metastasize to become fatal, if not diagnosed early. Despite recent therapeutic advances, management of melanoma remains difficult. Therefore, novel molecular targets and strategies are required to manage this neoplasm. This study was undertaken to determine the role of the sirtuin SIRT6 in melanoma. Employing a panel of human melanoma cells and normal human melanocytes, we found significant SIRT6 mRNA and protein upregulation in melanoma cells. Further, using a tissue microarray coupled with quantitative Vectra analysis, we demonstrated significant SIRT6 overexpression in human melanoma tissues...
September 2017: Genes & Cancer
https://www.readbyqxmd.com/read/29135436/defective-synaptic-transmission-causes-disease-signs-in-a-mouse-model-of-juvenile-neuronal-ceroid-lipofuscinosis
#11
Benedikt Grünewald, Maren D Lange, Christian Werner, Aet O'Leary, Andreas Weishaupt, Sandy Popp, David A Pearce, Heinz Wiendl, Andreas Reif, Hans C Pape, Klaus V Toyka, Claudia Sommer, Christian Geis
Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the CLN3 gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death. The consequences of CLN3 mutation on the progression of the disease, on neuronal transmission, and on central nervous network dysfunction are poorly understood. We used Cln3 knockout ( Cln3Δex1-6 ) mice and found increased anxiety-related behavior and impaired aversive learning as well as markedly affected motor function including disordered coordination...
November 14, 2017: ELife
https://www.readbyqxmd.com/read/29128403/cln5-is-secreted-and-functions-as-a-glycoside-hydrolase-in-dictyostelium
#12
Robert J Huber, Sabateeshan Mathavarajah
Ceroid lipofuscinosis neuronal 5 (CLN5) is a member of a family of proteins that are linked to neuronal ceroid lipofuscinosis (NCL). This devastating neurological disorder, known commonly as Batten disease, affects all ages and ethnicities and is currently incurable. The precise function of CLN5, like many of the NCL proteins, remains to be elucidated. In this study, we report the localization, molecular function, and interactome of Cln5, the CLN5 homolog in the social amoeba Dictyostelium discoideum. Residues that are glycosylated in human CLN5 are conserved in the Dictyostelium homolog as are residues that are mutated in patients with CLN5 disease...
January 2018: Cellular Signalling
https://www.readbyqxmd.com/read/29089465/lack-of-specificity-of-antibodies-raised-against-cln3-the-lysosomal-endosomal-transmembrane-protein-mutated-in-juvenile-batten-disease
#13
Tarah Nelson, David A Pearce, Attila D Kovács
Juvenile CLN3 (Batten) disease, a fatal, childhood neurodegenerative disorder, results from mutations in the CLN3 gene encoding a lysosomal/endosomal transmembrane protein. The exact physiological function of CLN3 is still unknown and it is unclear how CLN3 mutations lead to selective neurodegeneration. To study the tissue expression and subcellular localization of the CLN3 protein, a number of anti-CLN3 antibodies have been generated using either the whole CLN3 protein or short peptides from CLN3 for immunization...
December 22, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/29049447/a-case-of-unexpected-adult-onset-neurologic-decline-in-cln3-associated-retinal-degeneration
#14
Willemijn F E Kuper, Claudia van Alfen, Linda van Eck, Brigitte T A van den Broek, Albert Huisman, Maria M van Genderen, Peter M van Hasselt
No abstract text is available yet for this article.
December 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29041969/glial-cells-are-functionally-impaired-in-juvenile-neuronal-ceroid-lipofuscinosis-and-detrimental-to-neurons
#15
Lotta Parviainen, Sybille Dihanich, Greg W Anderson, Andrew M Wong, Helen R Brooks, Rosella Abeti, Payam Rezaie, Giovanna Lalli, Simon Pope, Simon J Heales, Hannah M Mitchison, Brenda P Williams, Jonathan D Cooper
The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are a group of inherited, fatal neurodegenerative disorders of childhood. In these disorders, glial (microglial and astrocyte) activation typically occurs early in disease progression and predicts where neuron loss subsequently occurs. We have found that in the most common juvenile form of NCL (CLN3 disease or JNCL) this glial response is less pronounced in both mouse models and human autopsy material, with the morphological transformation of both astrocytes and microglia severely attenuated or delayed...
October 17, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28963550/proteomic-mapping-of-differentially-vulnerable-pre-synaptic-populations-identifies-regulators-of-neuronal-stability-in-vivo
#16
Maica Llavero Hurtado, Heidi R Fuller, Andrew M S Wong, Samantha L Eaton, Thomas H Gillingwater, Giuseppa Pennetta, Jonathan D Cooper, Thomas M Wishart
Synapses are an early pathological target in many neurodegenerative diseases ranging from well-known adult onset conditions such as Alzheimer and Parkinson disease to neurodegenerative conditions of childhood such as spinal muscular atrophy (SMA) and neuronal ceroid lipofuscinosis (NCLs). However, the reasons why synapses are particularly vulnerable to such a broad range of neurodegeneration inducing stimuli remains unknown. To identify molecular modulators of synaptic stability and degeneration, we have used the Cln3 (-/-) mouse model of a juvenile form of NCL...
September 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28878041/characteristics-of-29-novel-atypical-solute-carriers-of-major-facilitator-superfamily-type-evolutionary-conservation-predicted-structure-and-neuronal-co-expression
#17
Emelie Perland, Sonchita Bagchi, Axel Klaesson, Robert Fredriksson
Solute carriers (SLCs) are vital as they are responsible for a major part of the molecular transport over lipid bilayers. At present, there are 430 identified SLCs, of which 28 are called atypical SLCs of major facilitator superfamily (MFS) type. These are MFSD1, 2A, 2B, 3, 4A, 4B, 5, 6, 6 L, 7, 8, 9, 10, 11, 12, 13A, 14A and 14B; SV2A, SV2B and SV2C; SVOP and SVOPL; SPNS1, SPNS2 and SPNS3; and UNC93A and UNC93B1. We studied their fundamental properties, and we also included CLN3, an atypical SLC not yet belonging to any protein family (Pfam) clan, because its involvement in the same neuronal degenerative disorders as MFSD8...
September 2017: Open Biology
https://www.readbyqxmd.com/read/28812237/pharmacological-effects-on-ceroid-lipofuscin-and-neuronal-structure-in-cln3-%C3%A2-ex7-8-mouse-brain-cultures
#18
Douglas E Brenneman, David A Pearce, Attila Kovacs, Shawn DeFrees
Juvenile Batten disease (JBD) is an inherited disorder that is characterized by the development of blindness, seizures, and progressive motor, psychiatric, and cognitive impairment. A model of JBD expressing the predominant human mutation (Cln3 (∆ex7/8) ) has been explored. Dissociated brain cultures from Cln3 (∆ex7/8) knock-in mice were compared to wild type (WT) for effects on granules of ceroid lipofuscin (CL) and neuronal structure. Utilizing high content image analysis of CL granules identified with antibodies to mitochondrial ATP synthase subunit c or tripeptidyl peptidase-1, significant increases in the areas for both immunoreactive granules were observed in Cln3 (∆ex7/8) cultures in comparison to WT...
September 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28792770/proteomic-analysis-of-brain-and-cerebrospinal-fluid-from-the-three-major-forms-of-neuronal-ceroid-lipofuscinosis-reveals-potential-biomarkers
#19
David E Sleat, Abla Tannous, Istvan Sohar, Jennifer A Wiseman, Haiyan Zheng, Meiqian Qian, Caifeng Zhao, Winnie Xin, Rosemary Barone, Katherine B Sims, Dirk F Moore, Peter Lobel
Clinical trials have been conducted for the neuronal ceroid lipofuscinoses (NCLs), a group of neurodegenerative lysosomal diseases that primarily affect children. Whereas clinical rating systems will evaluate long-term efficacy, biomarkers to measure short-term response to treatment would be extremely valuable. To identify candidate biomarkers, we analyzed autopsy brain and matching CSF samples from controls and three genetically distinct NCLs due to deficiencies in palmitoyl protein thioesterase 1 (CLN1 disease), tripeptidyl peptidase 1 (CLN2 disease), and CLN3 protein (CLN3 disease)...
October 6, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28676626/yeast-cip1-is-activated-by-environmental-stress-to-inhibit-cdk1-g1-cyclins-via-mcm1-and-msn2-4
#20
Ya-Lan Chang, Shun-Fu Tseng, Yu-Ching Huang, Zih-Jie Shen, Pang-Hung Hsu, Meng-Hsun Hsieh, Chia-Wei Yang, Silvia Tognetti, Berta Canal, Laia Subirana, Chien-Wei Wang, Hsiao-Tan Chen, Chi-Ying Lin, Francesc Posas, Shu-Chun Teng
Upon environmental changes, proliferating cells delay cell cycle to prevent further damage accumulation. Yeast Cip1 is a Cdk1 and Cln2-associated protein. However, the function and regulation of Cip1 are still poorly understood. Here we report that Cip1 expression is co-regulated by the cell-cycle-mediated factor Mcm1 and the stress-mediated factors Msn2/4. Overexpression of Cip1 arrests cell cycle through inhibition of Cdk1-G1 cyclin complexes at G1 stage and the stress-activated protein kinase-dependent Cip1 T65, T69, and T73 phosphorylation may strengthen the Cip1and Cdk1-G1 cyclin interaction...
July 4, 2017: Nature Communications
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