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https://www.readbyqxmd.com/read/29645350/degradation-of-altered-mitochondria-by-autophagy-is-impaired-in-lafora-disease
#1
Marcos Lahuerta, Carmen Aguado, Pablo Sánchez-Martín, Pascual Sanz, Erwin Knecht
Lafora disease (LD) is a fatal neurodegenerative disorder caused mostly by mutations in either of two genes encoding laforin and malin. LD is characterized by accumulation of a poorly-branched form of glycogen in the cytoplasm of neurons and other cells. We previously reported dysfunctional mitochondria in different LD models. Now, using mitochondrial uncouplers and respiratory chain inhibitors, we have investigated with human fibroblasts a possible alteration in the selective degradation of damaged mitochondria (mitophagy) in LD...
April 12, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29610669/nationwide-genetic-testing-towards-eliminating-lafora-disease-from-miniature-wirehaired-dachshunds-in-the-united-kingdom
#2
Saija Ahonen, Ian Seath, Clare Rusbridge, Susan Holt, Gill Key, Travis Wang, Peixiang Wang, Berge A Minassian
Background: Canine DNA-testing has become an important tool in purebred dog breeding and many breeders use genetic testing results when planning their breeding strategies. In addition, information obtained from testing of hundreds dogs in one breed gives valuable information about the breed-wide genotype frequency of disease associated allele. Lafora disease is a late onset, recessively inherited genetic disease which is diagnosed in Miniature Wirehaired Dachshunds (MWHD). It is one of the most severe forms of canine epilepsy leading to neurodegeneration and, frequently euthanasia within a few years of diagnosis...
2018: Canine Genetics and Epidemiology
https://www.readbyqxmd.com/read/29483193/lafora-disease-offers-a-unique-window-into-neuronal-glycogen-metabolism
#3
REVIEW
Matthew S Gentry, Joan J Guinovart, Berge A Minassian, Peter J Roach, Jose M Serratosa
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD develop cytoplasmic, aberrant glycogen inclusions in nearly all tissues that more closely resemble plant starch than human glycogen. This Minireview discusses the unique window into glycogen metabolism that LD research offers. It also highlights recent discoveries, including that glycogen contains covalently bound phosphate and that neurons synthesize glycogen and express both glycogen synthase and glycogen phosphorylase...
May 11, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29475602/the-3rd-international-lafora-epilepsy-workshop-evidence-for-a-cure
#4
REVIEW
M Kathryn Brewer, Matthew S Gentry
No abstract text is available yet for this article.
April 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29444631/accumulation-of-laforin-and-other-related-proteins-in-canine-lafora-disease-with-epm2b-repeat-expansion
#5
James K Chambers, Atigan Thongtharb, Takanori Shiga, Daigo Azakami, Miyoko Saito, Masumi Sato, Motoji Morozumi, Hiroyuki Nakayama, Kazuyuki Uchida
Canine Lafora disease (LD) is an autosomal recessive genetic disorder causing nonfatal structural epilepsy, mainly affecting miniature wirehaired dachshunds. Repeat expansion in the EPM2B gene causes a functional impairment of the ubiquitin ligase malin which regulates glycogen metabolism. Abnormally structured glycogen accumulates and develop polyglucosan bodies predominantly in the central nervous system. The authors performed a comprehensive clinical, genetic, and pathological study of 4 LD cases affecting miniature wirehaired dachshund dogs with EPM2B repeat expansions, with systemic distribution of polyglucosan bodies and accumulation of laforin and other functionally associated proteins in the polyglucosan bodies...
January 1, 2018: Veterinary Pathology
https://www.readbyqxmd.com/read/29408991/astrocytes-new-players-in-progressive-myoclonus-epilepsy-of-lafora-type
#6
Carla Rubio-Villena, Rosa Viana, Jose Bonet, Maria Adelaida Garcia-Gimeno, Marta Casado, Miguel Heredia, Pascual Sanz
Lafora disease (LD) is a fatal form of progressive myoclonus epilepsy characterized by the accumulation of insoluble poorly branched glycogen-like inclusions named Lafora bodies (LBs) in the brain and peripheral tissues. In the brain, since its first discovery in 1911, it was assumed that these glycogen inclusions were only present in affected neurons. Mouse models of LD have been obtained recently, and we and others have been able to report the accumulation of glycogen inclusions in the brain of LD animals, what recapitulates the hallmark of the disease...
April 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29207724/diagnosis-of-lafora-disease-by-skin-biopsy
#7
Prasath Sathiah, Debasis Gochhait, Priyadarshini Dehuri, Hema Subramanian
No abstract text is available yet for this article.
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29166468/lafora-and-tr%C3%A3-tiakoff-the-naming-of-the-inclusion-bodies-discovered-by-lewy
#8
Eliasz Engelhardt
Fritz Heinrich Jakob Lewy described, for the first time, in 1912, novel peculiar inclusions in neurons of certain brain nuclei in patients with Paralysis agitans, and compared his finding to the amyloid bodies described by Lafora one year before. Gonzalo Rodriguez Lafora studied one patient with Paralysis agitans, in 1913, and recognized, described, and depicted structures identical to those previously reported by Lewy. He was the first to acknowledge Lewy's finding, and also the first to name such inclusions after the discoverer - cuerpos intracelulares de Lewy (Lewy bodies)...
October 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28973665/suppression-of-leptin-signaling-reduces-polyglucosan-inclusions-and-seizure-susceptibility-in-a-mouse-model-for-lafora-disease
#9
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...
December 15, 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
#10
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
#11
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
#12
(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
#13
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
#14
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
#15
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
#16
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...
December 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28536304/abnormal-glycogen-chain-length-pattern-not-hyperphosphorylation-is-critical-in-lafora-disease
#17
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
#18
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
#19
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
#20
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
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