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https://www.readbyqxmd.com/read/28973665/suppression-of-leptin-signaling-reduces-polyglucosan-inclusions-and-seizure-susceptibility-in-a-mouse-model-for-lafora-disease
#1
Anupama Rai, Rohit Mishra, Subramaniam Ganesh
Lafora disease (LD) represents a fatal form of neurodegenerative disorder characterized by the presence of abnormally large number of polyglucosan bodies - called the Lafora bodies - in neurons and other tissues of the affected patients. The disease is caused by defects in the EPM2A gene coding for a protein phosphatase (laforin) or the NHLRC1 gene coding for an ubiquitin ligase (malin). Studies have shown that inhibition of glycogen synthesis in the brain could prevent the formation of Lafora bodies in the neurons and reduce seizure susceptibility in laforin-deficient mouse, an established animal model for LD...
September 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28934672/whole-exome-sequencing-identified-a-novel-missense-mutation-in-epm2a-underlying-lafora-disease-in-a-pakistani-family
#2
Zain Aslam, Eungi Lee, Mazhar Badshah, Muhammad Naeem, Changsoo Kang
No abstract text is available yet for this article.
October 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28827282/a-novel-image-based-high-throughput-screening-assay-discovers-therapeutic-candidates-for-adult-polyglucosan-body-disease
#3
Leonardo J Solmesky, Netaly Khazanov, Hanoch Senderowitz, Peixiang Wang, Berge A Minassian, Igor M Ferreira, Wyatt W Yue, Alexander Lossos, Miguel Weil, Or Kakhlon
Glycogen storage disorders (GSDs) are caused by excessive accumulation of glycogen. Some GSDs [adult polyglucosan (PG) body disease (APBD), and Tarui and Lafora diseases] are caused by intracellular accumulation of insoluble inclusions, called PG bodies (PBs), which are chiefly composed of malconstructed glycogen. We developed an APBD patient skin fibroblast cell-based assay for PB identification, where the bodies are identified as amylase-resistant periodic acid-Schiff's-stained structures, and quantified...
September 28, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28821695/tackling-lafora-in-dogs-and-children
#4
(no author information available yet)
No abstract text is available yet for this article.
August 19, 2017: Veterinary Record
https://www.readbyqxmd.com/read/28818698/a-novel-epm2a-mutation-in-a-patient-with-lafora-disease-presenting-with-early-parkinsonism-symptoms-in-childhood
#5
Edibe Pembegul Yildiz, Gozde Yesil, Melis Ulak Ozkan, Gonca Bektas, Mine Caliskan, Meral Ozmen
No abstract text is available yet for this article.
October 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28800070/pathogenesis-of-lafora-disease-transition-of-soluble-glycogen-to-insoluble-polyglucosan
#6
REVIEW
Mitchell A Sullivan, Silvia Nitschke, Martin Steup, Berge A Minassian, Felix Nitschke
Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with adolescent onset, resulting in progressive myoclonus epilepsy which is fatal usually within ten years of symptom onset. The disease is caused by loss-of-function mutations in either of the two genes EPM2A (laforin) or EPM2B (malin). It characteristically involves the accumulation of insoluble glycogen-derived particles, named Lafora bodies (LBs), which are considered neurotoxic and causative of the disease. The pathogenesis of LD is therefore centred on the question of how insoluble LBs emerge from soluble glycogen...
August 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28767715/lafora-disease-in-miniature-wirehaired-dachshunds
#7
Lindsay Swain, Gill Key, Anna Tauro, Saija Ahonen, Peixiang Wang, Cameron Ackerley, Berge A Minassian, Clare Rusbridge
Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund. The disease is due to a mutation in the Epm2b gene which results in intracellular accumulation of abnormal glycogen (Lafora bodies). Recent breed-wide testing suggests that the carrier plus affected rate may be as high as 20%. A characteristic feature of the disease is spontaneous and reflex myoclonus; however clinical signs and disease progression are not well described...
2017: PloS One
https://www.readbyqxmd.com/read/28556688/severe-and-rapidly-progressive-lafora-disease-associated-with-nhlrc1-mutation-a-case-report
#8
Sara Casciato, Stefano Gambardella, Addolorata Mascia, Pier Paolo Quarato, Alfredo D'Aniello, Yana Ackurina, Veronica Albano, Francesco Fornai, Simona Scala, Giancarlo Di Gennaro
Lafora disease (LD), also known as progressive myoclonic epilepsy-2 (EPM2), is a rare, fatal autosomal recessive disorder typically starting during adolescence in otherwise neurologically normal individuals. It is clinically characterized by insidious of progressive neurological features including seizures, action myoclonus, visual hallucination, ataxia and dementia. Mutations in the laforin (EPM2A) gene on chromosome 6q24 or in the malin gene (NHLRC1) on chromosome 6p22 are responsible of LD phenotype. Diagnostic workup includes genetic analysis as well as axillary skin biopsy with evidence of typical periodic acid-Schiff (PAS)-positive polyglucosan inclusion bodies (Lafora bodies) in the apocrine glands and/or in the eccrine duct...
June 12, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28536304/abnormal-glycogen-chain-length-pattern-not-hyperphosphorylation-is-critical-in-lafora-disease
#9
Felix Nitschke, Mitchell A Sullivan, Peixiang Wang, Xiaochu Zhao, Erin E Chown, Ami M Perri, Lori Israelian, Lucia Juana-López, Paola Bovolenta, Santiago Rodríguez de Córdoba, Martin Steup, Berge A Minassian
Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss-of-function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin. Glycogen in LD is hyperphosphorylated and poorly hydrosoluble. It precipitates and accumulates into neurotoxic Lafora bodies (LBs). The leading LD hypothesis that hyperphosphorylation causes the insolubility was recently challenged by the observation that phosphatase-inactive laforin rescues the laforin-deficient LD mouse model, apparently through correction of a general autophagy impairment...
July 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28320149/corrigendum-to-clinical-and-genetic-studies-in-patients-with-lafora-disease-from-pakistan-j-neurol-sci-373-2017-263-267
#10
Arsalan Ahmad, Rubina Dad, Muhammad Ikram Ullah, Tahir Ahmed Baig, Imran N Ahmad, Abdul Nasir, Christian A Hübner, Muhammad Jawad Hassan
No abstract text is available yet for this article.
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28296376/-lafora-disease-presentation-two-cases-in-a-mexican-family
#11
María Guadalupe González-De la Rosa, Edith Alva-Moncayo
Myoclonic epilepsy, described in 1911 by Lafora and Glueck, is an autosomal recessive hereditary clinical-pathological entity, which begins at the end of childhood or during adolescence, presents atypical absences, generalized and atonic tonic-clonic seizures, which can evolve to the epileptic state. The diagnosis is confirmed trough the skin biopsy or trough determination of the protein laforine. In this paper we present the initial case of a patient in whom we confirm the diagnosis of progressive myoclonic epilepsy and in particular the Lafora disease, which due to the symptomatology and the knowledge of the case we were able to detect her sister's disease...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28238966/managing-lafora-body-disease-with-vagal-nerve-stimulation
#12
Mohamad A Mikati, Faysal Tabbara
A 17-year-old female, of consanguineous parents, presented with a history of seizures and cognitive decline since the age of 12 years. She had absence, focal dyscognitive, generalized myoclonic, and generalized tonic-clonic seizures, all of which were drug resistant. The diagnosis of Lafora body disease was made based on a compatible clinical, EEG, seizure semiology picture and a disease-causing homozygous mutation in the EPM2A gene. A vagus nerve stimulator (VNS) was inserted and well tolerated with a steady decrease and then stabilization in seizure frequency during the six months following insertion (months 1-6)...
March 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28181916/4-phenylbutyric-acid-and-metformin-decrease-sensitivity-to-pentylenetetrazol-induced-seizures-in-a-malin-knockout-model-of-lafora-disease
#13
Gentzane Sánchez-Elexpuru, José M Serratosa, Pascual Sanz, Marina P Sánchez
Lafora disease (LD) is a rare adolescent-onset progressive myoclonic epilepsy caused by loss-of-function mutations either in the EPM2A gene encoding laforin or in the EPM2B gene encoding malin. Mouse models with deletion in the Epm2a or the Epm2b gene show intracellular aggregates of polyglucosans (Lafora bodies) and neurological complications that resemble those observed in patients with LD. In the absence of laforin or malin expression, mice also show different degrees of hyperexcitability, as reflected by an enhanced response to the convulsant drug pentylenetetrazol (PTZ)...
March 22, 2017: Neuroreport
https://www.readbyqxmd.com/read/28131202/clinical-and-genetic-studies-in-patients-with-lafora-disease-from-pakistan
#14
Arsalan Ahmad, Rubina Dad, Muhammad Ikram Ullah, Tahir Ahmed Baig, Imran N Ahmad, Abdul Nasir, Christian A Hübner, Muhammad Jawad Hassan
Lafora disease (LD) is progressive myoclonic epilepsy with late childhood- to teenage-onset. Mutations in two genes, EPM2A and NHLRC1, are responsible for this autosomal recessive disease in many patients Worldwide. In present study, we reported two unrelated consanguineous Pakistani families with Lafora disease (Families A and B). Affected individuals in both families presented with generalized tonic clonic seizures, intellectual disability, ataxia and cognitive decline. Diagnosis of Lafora disease was made on histo-pathological analysis of the skin biopsy, found positive for lafora bodies in periodic acid schiff stain and frequent generalized epileptiform discharges on electroencephalogram (EEG)...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28098937/sodium-selenate-treatment-improves-symptoms-and-seizure-susceptibility-in-a-malin-deficient-mouse-model-of-lafora-disease
#15
Gentzane Sánchez-Elexpuru, José M Serratosa, Marina P Sánchez
OBJECTIVE: To search for new therapies aimed at ameliorating the neurologic symptoms and epilepsy developing in patients with Lafora disease. METHODS: Lafora disease is caused by loss-of-function mutations in either the EPM2A or EPM2B genes. Epm2a(-/-) and Epm2b(-/-) mice display neurologic and behavioral abnormalities similar to those found in patients. Selenium is a potent antioxidant and its deficiency has been related to the development of certain diseases, including epilepsy...
March 2017: Epilepsia
https://www.readbyqxmd.com/read/28097224/everolimus-does-not-prevent-lafora-body-formation-in-murine-lafora-disease
#16
Navin Mishra, Peixiang Wang, Danielle Goldsmith, Xiaochu Zhao, Yunlin Xue, Uwe Christians, Berge A Minassian
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28077463/novel-method-for-detection-of-glycogen-in-cells
#17
Alexander V Skurat, Dyann M Segvich, Anna A DePaoli-Roach, Peter J Roach
Glycogen, a branched polymer of glucose, functions as an energy reserve in many living organisms. Abnormalities in glycogen metabolism, usually excessive accumulation, can be caused genetically, most often through mutation of the enzymes directly involved in synthesis and degradation of the polymer leading to a variety of glycogen storage diseases (GSDs). Microscopic visualization of glycogen deposits in cells and tissues is important for the study of normal glycogen metabolism as well as diagnosis of GSDs...
May 1, 2017: Glycobiology
https://www.readbyqxmd.com/read/28063983/loss-of-laforin-or-malin-results-in-increased-drp1-level-and-concomitant-mitochondrial-fragmentation-in-lafora-disease-mouse-models
#18
Mamta Upadhyay, Saloni Agarwal, Pratibha Bhadauriya, Subramaniam Ganesh
Lafora disease (LD) is an autosomal recessive form of a fatal disorder characterized by the myoclonus epilepsy, ataxia, psychosis, dementia, and dysarthria. A hallmark of LD is the presence of abnormal glycogen inclusions called Lafora bodies in the affected tissues including the neurons. LD can be caused by defects either in the laforin phosphatase coded by the EPM2A gene or in the malin E3 ubiquitin ligase coded by the NHLRC1 gene. The mouse models of LD, created by the targeted disruption of the LD genes, display several neurodegenerative changes...
January 4, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/27975203/loss-of-malin-but-not-laforin-results-in-compromised-autophagic-flux-and-proteasomal-dysfunction-in-cells-exposed-to-heat-shock
#19
Navodita Jain, Anupama Rai, Rohit Mishra, Subramaniam Ganesh
Heat stress to a cell leads to the activation of heat shock response, which is required for the management of misfolded and unfolded proteins. Macroautophagy and proteasome-mediated degradation are the two cellular processes that degrade polyubiquitinated, misfolded proteins. Contrasting pieces of evidence exist on the effect of heat stress on the activation of the above-mentioned degradative pathways. Laforin phosphatase and malin E3 ubiquitin ligase, the two proteins defective in Lafora neurodegenerative disorder, are involved in cellular stress response pathways and are required for the activation of heat shock transcription factor - the heat shock factor 1 (HSF1) - and, consequently, for cellular protection under heat shock...
March 2017: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/27851488/1853-triple-bromide-therapy-in-a-case-of-lafora-disease
#20
Katelin Kimler, Pooja Shah, Shira Gertz, Mark Siegel, Eric Segal
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
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