Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. Abstract Text:

Vincent S Tagliabracci,Julie Turnbull,Wei Wang,Jean-Marie Girard,Xiaochu Zhao,Alexander V Skurat,Antonio V Delgado-Escueta,Berge A Minassian,Anna A Depaoli-Roach,Peter J Roach,Vincent S Tagliabracci,Julie Turnbull,Wei Wang,Jean-Marie Girard,Xiaochu Zhao,Alexander V Skurat,Antonio V Delgado-Escueta,Berge A Minassian,Anna A Depaoli-Roach,Peter J Roach,Vincent S Tagliabracci,Julie Turnbull,Wei Wang,Jean-Marie Girard,Xiaochu Zhao,Alexander V Skurat,Antonio V Delgado-Escueta,Berge A Minassian,Anna A Depaoli-Roach,Peter J Roach,

Lafora disease is a progressive myoclonus epilepsy with onset typically in the second decade of life and death within 10 years. Lafora bodies, deposits of abnormally branched, insoluble glycogen-like polymers, form in neurons, muscle, liver, and other tissues. Approximately half of the cases of Lafora disease result from mutations in the EPM2A gene, which encodes laforin, a member of the dual-specificity protein phosphatase family that additionally contains a glycogen binding domain. The molecular basis for the formation of Lafora bodies is completely unknown. Glycogen, a branched polymer of glucose, contains a small amount of covalently linked phosphate whose origin and function are obscure. We report here that recombinant laforin is able to release this phosphate in vitro, in a time-dependent reaction with an apparent K(m) for glycogen of 4.5 mg/ml. Mutations of laforin that disable the glycogen binding domain also eliminate its ability to dephosphorylate glycogen. We have also analyzed glycogen from a mouse model of Lafora disease, Epm2a(-/-) mice, which develop Lafora bodies in several tissues. Glycogen isolated from these mice had a 40% increase in the covalent phosphate content in liver and a 4-fold elevation in muscle. We propose that excessive phosphorylation of glycogen leads to aberrant branching and Lafora body formation. This study provides a molecular link between an observed biochemical property of laforin and the phenotype of a mouse model of Lafora disease. The results also have important implications for glycogen metabolism generally.

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. Publishing Authors By Initials

VS Tagliabracci,J Turnbull,W Wang,JM Girard,X Zhao,AV Skurat,AV Delgado-Escueta,BA Minassian,AA Depaoli-Roach,PJ Roach,VS Tagliabracci,J Turnbull,W Wang,JM Girard,X Zhao,AV Skurat,AV Delgado-Escueta,BA Minassian,AA Depaoli-Roach,PJ Roach,VS Tagliabracci,J Turnbull,W Wang,JM Girard,X Zhao,AV Skurat,AV Delgado-Escueta,BA Minassian,AA Depaoli-Roach,PJ Roach,

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Proceedings of the National Academy of Sciences of

VOLUME: 104

Page Numbers: 19262-6

Journal Abbreviation: Proc. Natl. Acad. Sci. U.S.A.

ISSN: 1091-6490

DAY: 26

MONTH: 11

YEAR: 2007

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 7505876

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.

AFFILIATION: Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

Country: United States

AGENCY: United States NIDDK

GRANT: DK27221

ACRONYM: DK

MEDLINETA: Proc Natl Acad Sci U S A

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo Related Publications

• A green tea catechin extract upregulates the hepatic low-density lipoprotein receptor in rats.
• An outbreak of mucosal disease in Kenya.
• Are lateral electronic portal images adequate for accurate on-line daily targeting of the prostate? Results of a prospective study.
• Base metal alloys used for dental restorations and implants.
• Cerebral venous sinus thrombosis in children: a multicenter cohort from the United States.
• Cerebrovascular responses to incremental exercise during hypobaric hypoxia: effect of oxygenation on maximal performance.
• Changing HIV Infection-Related Mortality Rate and Causes of Death Among Persons With HIV Infection Before and After the Introduction of Highly Active Antiretroviral Therapy: Analysis of All HIV-Related Deaths in Barbados, 1997-2005.
• Cost-effectiveness of extended-duration antithrombotic prophylaxis after total hip arthroplasty.
• Effects of acute hypoxia on cerebral and muscle oxygenation during incremental exercise.
• Exposure to direct and scatter radiation with use of mini-C-arm fluoroscopy.
• Improved quantification of DNA methylation using methylation-sensitive restriction enzymes and real-time PCR.
• Intraocular laser surgical probe for membrane disruption by laser-induced breakdown.
• Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.
• Local thrombolytic treatment of cerebral venous thrombosis in three paediatric patients.
• Mating frequency and inclusive fitness in Drosophila melanogaster.
• Neoadjuvant hormonal therapy in men being treated with radiotherapy for localized prostate cancer.
• Neurological aspects of tuberous sclerosis in relation to MRI/MR spectroscopy findings in children with epilepsy.
• New techniques and management options for localized prostate cancer.
• Paradox and Pandora's box: the tragedy of current right-to-die jurisprudence.
• Pleiotrophin/Osteoblast-stimulating factor 1: dissecting its diverse functions in bone formation.
• Questioning botulinum toxin for headache: reality or illusion.
• REVITALIZING DEVITALIZED CHILDREN. AN OPEN WINDOW EXPERIMENT: A COMPARISON BETWEEN THE PROGRESS OF PUPILS TAUGHT IN AN OPEN WINDOW CLASS-ROOM AND THAT OF THE PUPILS OF A PARALLEL GRADE TAUGHT IN AN ORDINARILY VENTILATED AND HEATED CLASS-ROOM IN THE SAME S
• Regarding the influence of adjuvant suppression therapy for prostate cancer on the frequency and timing of fatal myocardial infarction: how real is the risk?
• THE ROLE OF THE SCHOOL IN THE SPREAD OF SCARLET FEVER: A LESSON FROM ONE SCHOOL IN PHILADELPHIA.
• The Medical Inspection of Girls in Secondary Schools.
• The brain as a possible site for the cardiovascular effects of beta-adrenoceptor blocking agents in cats.
• Therapy of peptic ulcer.
• Therapy of peptic ulcer. A double blind comparison of poldine methylsulfate with butabarbital sodium and propantheline bromide with phenobarbital.
• Thiamine biosynthesis in Escherichia coli: identification of the intermediate and by-product derived from tyrosine.
• Treating ocular myasthenia gravis with inadequate evidence.