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Batten disease

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https://www.readbyqxmd.com/read/29438445/crispr-cas9-in-leishmania-mexicana-a-case-study-of-lmxbtn1
#1
Aygul Ishemgulova, Jana Hlaváčová, Karolina Majerová, Anzhelika Butenko, Julius Lukeš, Jan Votýpka, Petr Volf, Vyacheslav Yurchenko
Leishmania parasites cause human cutaneous, mucocutaneous and visceral leishmaniasis. Several studies proposed involvement of certain genes in infectivity of these parasites based on differential mRNA expression data. Due to unusual gene expression mechanism, functions of such genes must be further validated experimentally. Here, we investigated a role of one of the putative virulence factors, LmxM.22.0010-encoded BTN1 (a protein involved in Batten disease in humans), in L. mexicana infectivity. Due to the incredible plasticity of the L...
2018: PloS One
https://www.readbyqxmd.com/read/29437182/videoconferencing-for-management-of-heart-failure-an-integrative-review
#2
Karen Bauce, Deborah B Fahs, Janene Batten, Robin Whittemore
Heart failure (HF) is a chronic disease associated with poor prognosis, poor quality of life (QOL), and high medical costs among older adults. Monitoring symptoms, interpreting symptoms, and decision making are self-care skills required for effective HF management. Telemonitoring (TM) is increasingly used to reduce incidence of symptom exacerbation leading to rehospitalization. An integrative review was performed to describe the efficacy of TM interventions that include videoconferencing (VC) on the HF outcomes of hospital service s use, self-care, and QOL...
February 13, 2018: Journal of Gerontological Nursing
https://www.readbyqxmd.com/read/29369397/metallothioneins-are-neuroprotective-agents-in-lysosomal-storage-disorders
#3
Eleonora Cavalca, Martina Cesani, Jennifer Gifford, Miguel Sena Esteves, Maria Rosa Terreni, Giuseppe Leoncini, Marco Peviani, Alessandra Biffi
OBJECTIVE: Lysosomal Storage Disorders (LSDs) are a broad class of inherited metabolic diseases caused by the defective activity of lysosomal enzymes. Central nervous system (CNS) manifestations are present in roughly 50% of LSD patients and represent an unmet medical need for them. We explored the therapeutic potential of Metallothioneins (MTs), a newly identified family of proteins with reported neuroprotective roles, in the murine models of two LSDs with CNS involvement. METHODS: MT-1 over-expressing transgenic mice (MTtg) were crossed with the murine models of Batten and Krabbe diseases...
January 25, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29363187/gpr65-inhibits-experimental-autoimmune-encephalomyelitis-through-cd4-t-cell-independent-mechanisms-that-include-effects-on-inkt-cells
#4
Rushika C Wirasinha, Dipti Vijayan, Nicola J Smith, Grant P Parnell, Alexander Swarbrick, Robert Brink, Cecile King, Graeme Stewart, David R Booth, Marcel Batten
The G protein-coupled receptor 65 (GPR65) gene has been genetically associated with several autoimmune diseases, including multiple sclerosis (MS). GPR65 is predominantly expressed in lymphoid organs and is activated by extracellular protons. In this study, we tested whether GPR65 plays a functional role in demyelinating autoimmune disease. Using a murine model of MS, experimental autoimmune encephalomyelitis (EAE), we found that Gpr65-deficient mice develop exacerbated disease. CD4+ helper T cells are key drivers of EAE pathogenesis, however, Gpr65 deficiency in these cells did not contribute to the observed exacerbated disease...
December 19, 2017: Immunology and Cell Biology
https://www.readbyqxmd.com/read/29135436/defective-synaptic-transmission-causes-disease-signs-in-a-mouse-model-of-juvenile-neuronal-ceroid-lipofuscinosis
#5
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 (Cln3(Δex1-6)) 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/29133694/manganese-in-manganism-parkinson-s-disease-huntington-s-disease-amyotrophic-lateral-sclerosis-and-batten-disease-a-narrative-review
#6
REVIEW
Owen Proudfoot
The collective evidence to date suggests that environmental exposure to excessive amounts of manganese (Mn) can cause a neurodegenerative condition known as manganism. It is now also relatively clear that Mn is involved in the pathogenesis of Alzheimer's disease and at least some prion diseases. The potential involvement of Mn in a panel of other neurodegenerative conditions including Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and Batten disease has been suggested and investigated, but the results to date are somewhat inconclusive...
November 2017: Neurology India
https://www.readbyqxmd.com/read/29128403/cln5-is-secreted-and-functions-as-a-glycoside-hydrolase-in-dictyostelium
#7
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...
November 8, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/29119690/experimental-infection-of-sheep-goats-and-cattle-with-a-bluetongue-virus-serotype-4-field-strain-from-bulgaria-2014
#8
C Schulz, C Sailleau, E Bréard, J Flannery, C Viarouge, S Zientara, M Beer, C Batten, B Hoffmann
In 2014, a new bluetongue virus serotype 4 (BTV-4) strain was detected in southern Greece and spread rapidly throughout the Balkan Peninsula and adjacent countries. Within half a year, more than 7,068 outbreaks were reported in ruminants, particularly in sheep. However, the reported morbidity and case fatality rates in ruminants varied. The pathogenesis of a Bulgarian BTV-4 strain isolated from sheep during the BTV-4 epizootic was studied in different species. Therefore, four sheep, three goats and three cattle were experimentally infected with the isolate BTV-4/BUL2014/15 and monitored for clinical signs up to several weeks...
November 8, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29089465/lack-of-specificity-of-antibodies-raised-against-cln3-the-lysosomal-endosomal-transmembrane-protein-mutated-in-juvenile-batten-disease
#9
Tarah Nelson, David A Pearce, Attila D Kovacs
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...
October 31, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/29041969/glial-cells-are-functionally-impaired-in-juvenile-neuronal-ceroid-lipofuscinosis-and-detrimental-to-neurons
#10
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/29025946/complete-genome-sequence-of-peste-des-petits-ruminants-virus-from-georgia-2016
#11
Paulina Z Rajko-Nenow, Tabitha G Cunliffe, John T Flannery, Honorata M Ropiak, Lasha Avaliani, Marina Donduashvili, Michael D Baron, Carrie A Batten
We report here the complete genome sequence of a peste des petits ruminants virus (PPRV) from the first outbreak of the disease in Georgia in January 2016. Genome sequencing was performed using Illumina next-generation sequencing technology in conjunction with Sanger sequencing. This PPRV/Georgia/Tbilisi/2016 genome sequence clustered within lineage IV PPRV viruses.
October 12, 2017: Genome Announcements
https://www.readbyqxmd.com/read/28913343/exacerbating-and-reversing-lysosomal-storage-diseases-from-yeast-to-humans
#12
REVIEW
Tamayanthi Rajakumar, Andrew B Munkacsi, Stephen L Sturley
Lysosomal storage diseases (LSDs) arise from monogenic deficiencies in lysosomal proteins and pathways and are characterized by a tissue-wide accumulation of a vast variety of macromolecules, normally specific to each genetic lesion. Strategies for treatment of LSDs commonly depend on reduction of the offending metabolite(s) by substrate depletion or enzyme replacement. However, at least 44 of the ~50 LSDs are currently recalcitrant to intervention. Murine models have provided significant insights into our understanding of many LSD mechanisms; however, these systems do not readily permit phenotypic screening of compound libraries, or the establishment of genetic or gene-environment interaction networks...
August 25, 2017: Microbial Cell
https://www.readbyqxmd.com/read/28828392/thermal-stability-as-a-determinant-of-aav-serotype-identity
#13
Antonette Bennett, Saajan Patel, Mario Mietzsch, Ariana Jose, Bridget Lins-Austin, Jennifer C Yu, Brian Bothner, Robert McKenna, Mavis Agbandje-McKenna
Currently, there are over 150 ongoing clinical trials utilizing adeno-associated viruses (AAVs) to target various genetic diseases, including hemophilia (AAV2 and AAV8), congenital heart failure (AAV1 and AAV6), cystic fibrosis (AAV2), rheumatoid arthritis (AAV2), and Batten disease (AAVrh.10). Prior to patient administration, AAV vectors must have their serotype, concentration, purity, and stability confirmed. Here, we report the application of differential scanning fluorimetry (DSF) as a good manufacturing practice (GMP) capable of determining the melting temperature (Tm) for AAV serotype identification...
September 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28812237/pharmacological-effects-on-ceroid-lipofuscin-and-neuronal-structure-in-cln3-%C3%A2-ex7-8-mouse-brain-cultures
#14
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/28623936/safety-and-potential-efficacy-of-gemfibrozil-as-a-supportive-treatment-for-children-with-late-infantile-neuronal-ceroid-lipofuscinosis-and-other-lipid-storage-disorders
#15
REVIEW
Kyeongsoon Kim, Hynda K Kleinman, Hahn-Jun Lee, Kalipada Pahan
Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is a group of genetically distinct lysosomal disorders that mainly affect the central nervous system, resulting in progressive motor and cognitive decline primarily in children. Multiple distinct genes involved in the metabolism of lipids have been identified to date with various mutations in this family of diseases. There is no cure for these diseases but some new therapeutic approaches have been tested that offer more hope than the standard palliative care...
June 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28559377/calcineurin-nfat-signaling-in-activated-astrocytes-drives-network-hyperexcitability-in-a%C3%AE-bearing-mice
#16
Pradoldej Sompol, Jennifer L Furman, Melanie M Pleiss, Susan D Kraner, Irina A Artiushin, Seth R Batten, Jorge E Quintero, Linda A Simmerman, Tina L Beckett, Mark A Lovell, M Paul Murphy, Greg A Gerhardt, Christopher M Norris
Hyperexcitable neuronal networks are mechanistically linked to the pathologic and clinical features of Alzheimer's disease (AD). Astrocytes are a primary defense against hyperexcitability, but their functional phenotype during AD is poorly understood. Here, we found that activated astrocytes in the 5xFAD mouse model were strongly associated with proteolysis of the protein phosphatase calcineurin (CN) and the elevated expression of the CN-dependent transcription factor nuclear factor of activated T cells 4 (NFAT4)...
June 21, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28464005/a-tailored-mouse-model-of-cln2-disease-a-nonsense-mutant-for-testing-personalized-therapies
#17
Ryan D Geraets, Logan M Langin, Jacob T Cain, Camille M Parker, Rosanna Beraldi, Attila D Kovacs, Jill M Weimer, David A Pearce
The Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, result from mutations in over a dozen genes. Although, adults are susceptible, the NCLs are frequently classified as pediatric neurodegenerative diseases due to their greater pediatric prevalence. Initial clinical presentation usually consists of either seizures or retinopathy but develops to encompass both in conjunction with declining motor and cognitive function. The NCLs result in premature death due to the absence of curative therapies...
2017: PloS One
https://www.readbyqxmd.com/read/28456990/prenatal-diagnosis-of-lysosomal-storage-disorders-using-chorionic-villi
#18
Jyotsna Verma, Sunita Bijarnia-Mahay, Ishwar C Verma
Prenatal enzymatic diagnosis for an array of lysosomal storage disorders (LSDs) can be performed accurately, provided that a confirmed diagnosis by biochemical/molecular study in the index case is available and a strict defined protocol, specific to each individual disorder is followed. The present chapter describes the protocols for reliable and accurate prenatal enzymatic diagnoses by fluorometric and spectrophotometric methods of lysosomal storage disorders: Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandhoff, GM1, Mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy, and Batten diseases using uncultured chorionic villi samples...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28390949/ncls-and-er-a-stressful-relationship
#19
REVIEW
Davide Marotta, Elisa Tinelli, Sara E Mole
The Neuronal Ceroid Lipofuscinoses (NCLs, Batten disease) are a group of inherited neurodegenerative disorders with variable age of onset, characterized by the lysosomal accumulation of autofluorescent ceroid lipopigments. The endoplasmic reticulum (ER) is a critical organelle for normal cell function. Alteration of ER homeostasis leads to accumulation of misfolded protein in the ER and to activation of the unfolded protein response. ER stress and the UPR have recently been linked to the NCLs. In this review, we will discuss the evidence for UPR activation in the NCLs, and address its connection to disease pathogenesis...
June 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28365442/loss-of-cln3-impacts-protein-secretion-in-the-social-amoeba-dictyostelium
#20
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
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