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Batten disease

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https://www.readbyqxmd.com/read/27881166/using-the-social-amoeba-dictyostelium-to-study-the-functions-of-proteins-linked-to-neuronal-ceroid-lipofuscinosis
#1
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
#2
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...
November 2, 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
#3
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...
October 20, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27744565/a-phase-i-study-to-determine-the-pharmacokinetics-and-urinary-excretion-of-belinostat-and-metabolites-in-patients-with-advanced-solid-tumors
#4
Hanna Bailey, Jordan P McPherson, Erin B Bailey, Theresa L Werner, Sumati Gupta, Julia Batten, Guru Reddy, Gajanan Bhat, Sunil Sharma, Neeraj Agarwal
PURPOSE: Belinostat is an inhibitor of histone deacetylase enzymes, resulting in DNA repair inhibition and apoptosis. Present data are lacking to provide dosing recommendations in renal insufficiency. The purpose of this trial was to assess the pharmacokinetics (PK) of belinostat and belinostat metabolites in plasma and urine. METHODS: This was a phase I, single-center, open-label, two-part study. In Part I, patients received single-agent belinostat 1000 mg/m(2)...
October 15, 2016: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/27669405/aberrant-adhesion-impacts-early-development-in-a-dictyostelium-model-for-juvenile-neuronal-ceroid-lipofuscinosis
#5
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/27615017/over-the-scope-clip-closure-of-gastrocutaneous-fistula
#6
Eduardo Rodrigues-Pinto, Pedro Pereira, Filipe Vilas-Boas, Guilherme Macedo
A 35-year-old female patient, with Batten's disease, submitted to a surgical gastrostomy in 2005, and had it replaced in 2007, 2011 and 2014 with one with a filled balloon as its internal retention mechanism. In 2015, she presented to the emergency room due to stomal enlargement, leakage and chemical dermatitis and cellulitis. A 12 mm over-the-scope clip was placed, after anchoring the fistula edges with the twin grasper and suction of the defect into the applicator cap. Endoscopic resolution of the fistula was achieved...
September 2016: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/27488642/an-eeg-investigation-of-sleep-homeostasis-in-healthy-and-cln5-batten-disease-affected-sheep
#7
Nicholas Perentos, Amadeu Q Martins, Robin J M Cumming, Nadia L Mitchell, David N Palmer, Stephen J Sawiak, A Jennifer Morton
UNLABELLED: Sheep have large brains with human-like anatomy, making them a useful species for studying brain function. Sleep homeostasis has not been studied in sheep. Here, we establish correlates of sleep homeostasis in sheep through a sleep deprivation experiment. We then use these correlates to elucidate the nature of sleep deficits in a naturally occurring ovine model of neuronal ceroid lipofuscinosis (NCL, Batten disease) caused by a mutation in CLN5 In humans, mutations in this gene lead to cortical atrophy and blindness, as well as sleep abnormalities...
August 3, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27484889/development-of-a-novel-reverse-transcription-loop-mediated-isothermal-amplification-assay-for-the-rapid-detection-of-african-horse-sickness-virus
#8
V L Fowler, E L A Howson, J Flannery, M Romito, A Lubisi, M Agüero, P Mertens, C A Batten, H R Warren, J Castillo-Olivares
African horse sickness (AHS) is a disease of equids caused by African Horse Sickness Virus (AHSV) and is transmitted by Culicoides midges. AHS is endemic in sub-Saharan Africa, but during the past century, outbreaks of significant economic importance and elevated mortality have been recorded in Northern African countries, the Iberian and Arabian Peninsula, the Middle East and the Indian subcontinent. Effective control combines the application of early warning systems, accurate laboratory diagnosis and reporting, animal movement restrictions, suitable vaccination and surveillance programs, and the coordination of all these measures by efficient veterinary services...
August 2, 2016: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/27434683/cns-restricted-transduction-and-crispr-cas9-mediated-gene-deletion-with-an-engineered-aav-vector
#9
Giridhar Murlidharan, Kensuke Sakamoto, Lavanya Rao, Travis Corriher, Dan Wang, Guangping Gao, Patrick Sullivan, Aravind Asokan
Gene therapy using recombinant adeno-associated viral (AAV) vectors is emerging as a promising approach to treat central nervous system disorders such as Spinal muscular atrophy, Batten, Parkinson and Alzheimer disease amongst others. A critical remaining challenge for central nervous system-targeted gene therapy, silencing or gene editing is to limit potential vector dose-related toxicity in off-target cells and organs. Here, we characterize a lab-derived AAV chimeric (AAV2g9), which displays favorable central nervous system attributes derived from both parental counterparts, AAV2 and AAV9...
2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27327661/neurodegeneration-and-epilepsy-in-a-zebrafish-model-of-cln3-disease-batten-disease
#10
Kim Wager, Anselm A Zdebik, Sonia Fu, Jonathan D Cooper, Robert J Harvey, Claire Russell
The neuronal ceroid lipofuscinoses are a group of lysosomal storage disorders that comprise the most common, genetically heterogeneous, fatal neurodegenerative disorders of children. They are characterised by childhood onset, visual failure, epileptic seizures, psychomotor retardation and dementia. CLN3 disease, also known as Batten disease, is caused by autosomal recessive mutations in the CLN3 gene, 80-85% of which are a ~1 kb deletion. Currently no treatments exist, and after much suffering, the disease inevitably results in premature death...
2016: PloS One
https://www.readbyqxmd.com/read/27026089/colorectal-cancer-in-crohn-s-colitis-is-comparable-to-sporadic-colorectal-cancer
#11
Jochen K Lennerz, Kimberley W J van der Sloot, Long Phi Le, Julie M Batten, Jae Young Han, Kenneth C Fan, Corey A Siegel, Amitabh Srivastava, Do Youn Park, Jey-Hsin Chen, Bruce E Sands, Joshua R Korzenik, Robert D Odze, Dora Dias-Santagata, Darrell R Borger, Hamed Khalili, A John Iafrate, Gregory Y Lauwers
PURPOSE: It is now recognized that Crohn's disease (CD), similar to ulcerative colitis (UC), carries an up to 20-fold higher cancer risk, and the development of colorectal carcinoma (CRC) is a major long-term complication. Once CRC is present, molecular profiling is one of the components in selecting appropriate treatment strategies; however, in contrast to UC, genetic alterations in Crohn's colitis-associated CRC are poorly understood. METHODS: In a series of 227 patients with Crohn's colitis, we identified 33 cases of CRC (~14 %) and performed targeted mutational analysis of BRAF/KRAS/NRAS and determined microsatellite status as well as immunophenotype of the tumors...
May 2016: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/26748992/vision-loss-in-juvenile-neuronal-ceroid-lipofuscinosis-cln3-disease
#12
Madhu M Ouseph, Mark E Kleinman, Qing Jun Wang
Juvenile neuronal ceroid lipofuscinosis (JNCL; also known as CLN3 disease) is a devastating neurodegenerative lysosomal storage disorder and the most common form of Batten disease. Progressive visual and neurological symptoms lead to mortality in patients by the third decade. Although ceroid-lipofuscinosis, neuronal 3 (CLN3) has been identified as the sole disease gene, the biochemical and cellular bases of JNCL and the functions of CLN3 are yet to be fully understood. As severe ocular pathologies manifest early in disease progression, the retina is an ideal tissue to study in the efforts to unravel disease etiology and design therapeutics...
May 2016: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/26687976/inter-laboratory-evaluation-of-the-performance-parameters-of-a-lateral-flow-test-device-for-the-detection-of-bluetongue-virus-specific-antibodies
#13
Jean-Baptiste Hanon, Valerie Vandenberge, Matthias Deruelle, Ilse De Leeuw, Kris De Clercq, Steven Van Borm, Frank Koenen, Lihong Liu, Bernd Hoffmann, Carrie Anne Batten, Stéphan Zientara, Emmanuel Breard, Yves Van der Stede
Bluetongue (BT) is a viral vector-borne disease affecting domestic and wild ruminants worldwide. In this study, a commercial rapid immuno-chromatographic method or Lateral Flow Test (LFT) device, for the detection of BT virus-specific antibodies in animal serum, was evaluated in an international inter-laboratory proficiency test. The evaluation was done with sera samples of variable background (ruminant species, serotype, field samples, experimental infections, vaccinated animals). The diagnostic sensitivity was 100% (95% C...
February 2016: Journal of Virological Methods
https://www.readbyqxmd.com/read/26684481/gene-therapy-for-rare-central-nervous-system-diseases-comes-to-age
#14
REVIEW
Patrick Aubourg
Gene therapy for rare inherited neurologic diseases has entered the clinics. One strategy relies upon the replacement of brain microglia using hematopoietic stem cell gene therapy with lentiviral vectors. Therapeutic success using this approach has been obtained in X-linked adrenoleukodystrophy and metachromatic leukodystrophy. The other strategy relies upon the intracerebral administration of adeno-associated virus vectors encoding lysosomal enzymes. Therapeutic trials are ongoing in Batten's disease, metachromatic leukodystrophy, and Sanfilippo type A and B diseases...
2016: Endocrine Development
https://www.readbyqxmd.com/read/26664787/molecular-neuropathology-of-the-synapse-in-sheep-with-cln5-batten-disease
#15
Inês S Amorim, Nadia L Mitchell, David N Palmer, Stephen J Sawiak, Roger Mason, Thomas M Wishart, Thomas H Gillingwater
AIMS: Synapses represent a major pathological target across a broad range of neurodegenerative conditions. Recent studies addressing molecular mechanisms regulating synaptic vulnerability and degeneration have relied heavily on invertebrate and mouse models. Whether similar molecular neuropathological changes underpin synaptic breakdown in large animal models and in human patients with neurodegenerative disease remains unclear. We therefore investigated whether molecular regulators of synaptic pathophysiology, previously identified in Drosophila and mouse models, are similarly present and modified in the brain of sheep with CLN5 Batten disease...
November 2015: Brain and Behavior
https://www.readbyqxmd.com/read/26659390/fibrates-inhibit-the-apoptosis-of-batten-disease-lymphoblast-cells-via-autophagy-recovery-and-regulation-of-mitochondrial-membrane-potential
#16
Minho Hong, Ki Duk Song, Hak-Kyo Lee, SunShin Yi, Yong Seok Lee, Tae-Hwe Heo, Hyun Sik Jun, Sung-Jo Kim
Batten disease (BD; also known as juvenile neuronal ceroid lipofuscinosis) is a genetic disorder inherited as an autosomal recessive trait and is characterized by blindness, seizures, cognitive decline, and early death resulting from the inherited mutation of the CLN3 gene. Mitochondrial oxidative stress, endoplasmic reticulum (ER) stress, disrupted autophagy, and enhanced apoptosis have been suggested to play a role in BD pathogenesis. Fibrates, a class of lipid-lowering drugs that induce peroxisome proliferator-activated receptor-α (PPAR-α) activation, are the most commonly used PPAR agonists...
March 2016: In Vitro Cellular & Developmental Biology. Animal
https://www.readbyqxmd.com/read/26597320/histochemical-localization-of-palmitoyl-protein-thioesterase-1-activity
#17
Joshua T Dearborn, Subramania Ramachandran, Charles Shyng, Jui-Yun Lu, Jonah Thornton, Sandra L Hofmann, Mark S Sands
Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is an invariably fatal neurodegenerative pediatric disorder caused by an inherited mutation in the PPT1 gene. Patients with INCL lack the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1, EC 3.1.2.22), resulting in intracellular accumulation of autofluorescent storage material and subsequent neuropathology. The Ppt1(-/-) mouse is deficient in PPT1 activity and represents a useful animal model of INCL that recapitulates most of the clinical and pathological aspects of the disease...
February 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/26560358/aav-gene-transfer-delays-disease-onset-in-a-tpp1-deficient-canine-model-of-the-late-infantile-form-of-batten-disease
#18
Martin L Katz, Luis Tecedor, Yonghong Chen, Baye G Williamson, Elena Lysenko, Fred A Wininger, Whitney M Young, Gayle C Johnson, Rebecca E H Whiting, Joan R Coates, Beverly L Davidson
The most common form of the childhood neurodegenerative disease late infantile neuronal ceroid lipofuscinosis (also called Batten disease) is caused by deficiency of the soluble lysosomal enzyme tripeptidyl peptidase 1 (TPP1) resulting from mutations in the TPP1 gene. We tested whether TPP1 gene transfer to the ependyma, the epithelial lining of the brain ventricular system, in TPP1-deficient dogs would be therapeutically beneficial. A one-time administration of recombinant adeno-associated virus (rAAV) expressing canine TPP1 (rAAV...
November 11, 2015: Science Translational Medicine
https://www.readbyqxmd.com/read/26510000/batten-disease-caused-by-a-novel-mutation-in-the-ppt1-gene
#19
Tatyana I Metelitsina, Darrel J Waggoner, Michael A Grassi
PURPOSE: To report a case of Batten disease due to a previously unreported mutation in PPT1. METHODS: A 9-year-old girl presented with classic clinical findings of Batten Disease. RESULTS: Genetic testing for the mutations in the most common Batten disease gene, CLN3, was negative. Evaluation of a panel of genes known to be implicated in neuronal ceroid lipofuscinoses revealed disease causing mutations in PPT1, one of which was novel. CONCLUSION: Mutations in PPT1 typically cause the infantile form of neuronal ceroid lipofuscinosis...
2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/26450516/photoreceptor-phagosome-processing-defects-and-disturbed-autophagy-in-retinal-pigment-epithelium-of-cln3%C3%AE-ex1-6-mice-modelling-juvenile-neuronal-ceroid-lipofuscinosis-batten-disease
#20
Silène T Wavre-Shapton, Alessandra A Calvi, Mark Turmaine, Miguel C Seabra, Daniel F Cutler, Clare E Futter, Hannah M Mitchison
Retinal degeneration and visual impairment are the first signs of juvenile neuronal ceroid lipofuscinosis caused by CLN3 mutations, followed by inevitable progression to blindness. We investigated retinal degeneration in Cln3(Δex1-6) null mice, revealing classic 'fingerprint' lysosomal storage in the retinal pigment epithelium (RPE), replicating the human disease. The lysosomes contain mitochondrial F0-ATP synthase subunit c along with undigested membranes, indicating a reduced degradative capacity. Mature autophagosomes and basal phagolysosomes, the terminal degradative compartments of autophagy and phagocytosis, are also increased in Cln3(Δex1) (-6) RPE, reflecting disruption to these key pathways that underpin the daily phagocytic turnover of photoreceptor outer segments (POS) required for maintenance of vision...
December 15, 2015: Human Molecular Genetics
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