Glycogen storage disease type III: A novel Agl knockout mouse model

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1842, Issue 11, 2014, Pages 2318-2328

  Pagliarani, Serena ^a   Lucchiari, Sabrina ^a   Ulzi, Gianna ^a   Violano, Raffaella ^a   Ripolone, Michela ^a   Bordoni, Andreina ^a   Nizzardo, Monica ^a   Gatti, Stefano ^b   Corti, Stefania ^a   Moggio, Maurizio ^a   Bresolin, Nereo ^a   Comi, Giacomo P ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Glycogen debranching enzyme; Glycogen storage disease type III; Glycogenosis; Metabolic disease; Mouse model

Indexed keywords

ALKALINE PHOSPHATASE; AMINOTRANSFERASE; CHOLESTEROL; GLUCOSIDASE; GLYCOGEN; TRIACYLGLYCEROL;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BIOCHEMISTRY; BODY WEIGHT; BRAIN TISSUE; CEREBELLUM; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; DIAPHRAGM; ELECTRON MICROSCOPY; FEMALE; FRONTAL CORTEX; GASTROCNEMIUS MUSCLE; GLUCOSE BLOOD LEVEL; GLYCOGEN ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 3; HEART; HETEROZYGOTE; HISTOLOGY; LIVER; LIVER ADENOMA; LIVER CELL; LIVER CIRRHOSIS; MORTALITY; MOTOR COORDINATION; MOUSE; MUSCLE FUNCTION; NONHUMAN; SCIATIC NERVE; SKELETAL MUSCLE; TRIACYLGLYCEROL BLOOD LEVEL; WESTERN BLOTTING;

EID: 84908032896     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2014.07.029     Document Type: Article

References (28)

1. Van Hoof F., Hers H.G. The subgroups of type 3 glycogenosis. Eur. J. Biochem. 1967, 2:265-270.
2. DiMauro S., Lamperti C. Muscle glycogenoses. Muscle Nerve 2001, 24:984-999.
3. Siciliano M., De Candia E., Ballarin S. Hepatocellular carcinoma complicating liver cirrhosis in type IIIa glycogen storage disease. J. Clin. Gastroenterol. 2000, 31:80-82.
4. Lee P., Burch M., Leonard J.V. Plasma creatine kinase and cardiomyopathy in glycogen storage disease type III. J. Inherit. Metab. Dis. 1995, 18:751-752.
5. Labrune P., Troche P., Duvaltrier I., Chevalier P., Odievre M. Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of literature. J. Pediatr. Gastroenterol. Nutr. 1997, 24:276-279.
6. Demo E., Frish D., Gottfired M., Koepke J., Boney A., Bali D. Glycogen storage disease type III hepatocellular carcinoma a long term complication?. J. Hepatol. 2007, 46:492-498.
7. International GSD Conference H-12 and H-13 posters November 28-30 2013, Selbsthilfegruppe Glykogenose Deutschland e.V., Heidelberg, Germany.
8. DiMauro S., Hartwig G.B., Hays A., Eastwood A.B., Franco R., Olarte M., Chang M., Roses A.D., Fetell M., Schoenfeldt R.S., Stern L.Z. Debrancher deficiency: neuromuscular disorder in 5 adults. Ann. Neurol. 1979, 54:422-436.
9. Kishnani P.S., Austin S.L., Arn P., Bali D.S., Boney A., Case L.E., Chung W.K., Desai D.M., El-Gharbawy A., Haller R., Smit G.P., Smith A.D., Hobson-Webb L.D., Wechsler S.B., Weinstein D.A., Watson M.S. ACMG. Glycogen storage disease type III diagnosis and management guidelines. Genet. Med. 2010, 12:446-463.
10. Vertilus S.M., Austin S.L., Foster K.S., Boyette K.E., Bali D.S., Li J.S., Kishnani P.S., Wechsler S.B. Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. Genet. Med. 2010, 12:413-423.
11. Sentner C.P., Caliskan K., Vletter W.B., Smit G.P. Heart failure due to severe hypertrophic cardiomyopathy reversed by low calorie, high protein dietary adjustments in a glycogen storage disease type IIIa patient. JIMD Rep. 2012, 5:13-16.
12. Cheng A., Zhang M., Gentry M.S., Worby C.A., Dixon J.E., Saltiel A.R. A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease. Genes Dev. 2007, 21:2399-2409.
13. Cheng A., Zhang M., Okubo M., Omichi K., Saltiel A.R. Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions. Hum. Mol. Genet. 2009, 18:2045-2052.
14. Gregory B.L., Shelton G.D., Bali D.S., Chen Y.T., Fyfe J.C. Glycogen storage disease type IIIa in curly-coated retrievers. J. Vet. Intern. Med. 2007, 21:40-46.
15. Nelson T.E., Larner J. A rapid micro assay method for amylo-1,6-glucosidase. Anal. Biochem. 1970, 33:87-101.
16. Krisman C.R. A method for the colorimetric estimation of glycogen with iodine. Anal. Biochem. 1962, 4:17-23.
17. Akman H.O., Raghavan A., Craigen W.J. Animal models of glycogen storage disorders. Prog. Mol. Biol. Transl. Sci. 2011, 100:369-388. 10.1016/B978-0-12-384878-9.00009-1.
18. Sciacco M., Fagiolari G., Lamperti C., Messina S., Bazzi P., Napoli L., Chiveri L., Prelle A., Comi G.P., Bresolin N., Scarlato G., Moggio M. Lack of apoptosis in mitochondrial encephalomyopathies. Neurology 2001, 56:1070-1074.
19. Horvath J.J., Austin S.L., Jones H.N., Drake E.J., Case L.E., Soher B.J., Bashir M.R., Kishnani P.S. Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa. Mol. Genet. Metab. 2012, 107:496-500.
20. Liu K.M., Wu J.Y., Chen Y.T. Mouse model of glycogen storage disease type III. Mol. Genet. Metab. Feb 18 2014, (pii: S1096-7192(14)00068-7). 10.1016/j.ymgme.2014.02.005.
21. Yi H., Thurberg B.L., Curtis S., Austin S., Fyfe J., Koeberl D.D., Kishnani P.S., Sun B. Characterization of a canine model of glycogen storage disease type IIIa. Dis. Model Mech. 2012, 5:804-811.
22. Moses S.W., Gadoth N., Bashan N., Ben-David E., Slonim A., Wanderman K.L. Neuromuscular involvement in glycogen storage disease type III. Acta Paediatr. Scand. 1986, 75:289-296.
23. Engel A.G., Franzini-Armstrong Myology 2004, vol. 2, chapter 55:1543. third edition.
24. Lucchiari S., Santoro D., Pagliarani S., Comi G.P. Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency. Acta Myol. 2007, 26:72-74.
25. Preisler N., Pradel A., Husu E., Madsen K.L., Becquemin M.H., Mollet A., Labrune P., Petit F., Hogrel J.Y., Jardel C., Maillot F., Vissing J., Laforêt P. Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency?. Mol. Genet. Metab. 2013, 109:14-20.
26. Powell H.C., Haas R., Hall C.L., Wolff J.A., Nyhan W., Brown B.I. Peripheral nerve in type III glycogenosis: selective involvement of unmyelinated fiber Schwann cells. Muscle Nerve 1985, 8:667-671.
27. Ugawa Y., Inoue K., Takemura T., Iwamasa T. Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis. Ann. Neurol. 1986, 19:294-297.
28. Kiechl S., Willeit J., Vogel W., Kohlendorfer U., Poewe W. Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis. Neuromuscul. Disord. 1999, 9:408-410.