Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV
Tóm tắt
Từ khóa
Tài liệu tham khảo
Moses, 2002, The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies, Curr. Mol. Med., 2, 177, 10.2174/1566524024605815
Brown, 1966, Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis, Proc. Natl Acad. Sci. USA, 56, 725, 10.1073/pnas.56.2.725
Servidei, 1989, Disorders of glycogen metabolism of muscle, Neurol. Clin., 7, 159, 10.1016/S0733-8619(18)30833-8
L'Hermine-Coulomb, 2005, Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family, Am. J. Med. Genet. A,, 139A, 118, 10.1002/ajmg.a.30945
Cox, 1999, Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis, Am. J. Med. Genet., 86, 187, 10.1002/(SICI)1096-8628(19990910)86:2<187::AID-AJMG20>3.0.CO;2-7
van Noort, 1993, A congenital variant of glycogenosis type IV, Pediatr. Pathol., 13, 685, 10.3109/15513819309048254
Tang, 1994, Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis, Acta Neuropathol., 87, 531, 10.1007/BF00294181
Herrick, 1994, Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage, J. Neuropathol. Exp. Neurol., 53, 239, 10.1097/00005072-199405000-00004
Reusche, 1992, A mild juvenile variant of type IV glycogenosis, Brain Dev., 14, 36, 10.1016/S0387-7604(12)80277-4
Schroder, 1993, Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis), Acta Neuropathol., 85, 419, 10.1007/BF00334454
Lossos, 1991, Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients, Ann. Neurol., 30, 655, 10.1002/ana.410300505
Bruno, 1993, Glycogen branching enzyme deficiency in adult polyglucosan body disease, Ann. Neurol, 33, 88, 10.1002/ana.410330114
Bao, 1996, Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene, J. Clin. Invest., 97, 941, 10.1172/JCI118517
Valberg, 2001, Glycogen branching enzyme deficiency in quarter horse foals, J. Vet. Intern. Med., 15, 572, 10.1111/j.1939-1676.2001.tb01593.x
Fyfe, 2007, A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats, Mol. Genet. Metab., 90, 383, 10.1016/j.ymgme.2006.12.003
Bruno, 2004, Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV), Neurology, 63, 1053, 10.1212/01.WNL.0000138429.11433.0D
Augustin, 2005, Efficient and fast targeted production of murine models based on ENU mutagenesis, Mamm. Genome, 16, 405, 10.1007/s00335-004-3028-2
Pashmforoush, 2004, Nkx2–5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block, Cell, 117, 373, 10.1016/S0092-8674(04)00405-2
Chen, 2009, Analysis of ventricular hypertrabeculation and noncompaction using genetically engineered mouse models, Pediatr. Cardiol., 30, 626, 10.1007/s00246-009-9406-5
Kerkela, 2008, Deletion of GSK-3beta in mice leads to hypertrophic cardiomyopathy secondary to cardiomyoblast hyperproliferation, J. Clin. Invest., 118, 3609, 10.1172/JCI36245
Alegria, 1999, Glycogen storage disease type IV presenting as hydrops fetalis, J. Inherit. Metab. Dis., 22, 330, 10.1023/A:1005568507267
Nambu, 2003, A neonatal form of glycogen storage disease type IV, Neurology, 61, 392, 10.1212/01.WNL.0000073141.61695.B3
Navaratnam, 1987, Heart Muscle: Ultrastructural Studies
Bhavnani, 1983, Ontogeny of some enzymes of glycogen metabolism in rabbit fetal heart, lungs, and liver, Can. J. Biochem. Cell Biol., 61, 191, 10.1139/o83-027
Dawes, 1959, The importance of cardiac glycogen for the maintenance of life in foetal lambs and newborn animals during anoxia, J. Physiol., 146, 516, 10.1113/jphysiol.1959.sp006208
Gutierrez-Correa, 1991, Glycogen and enzymes of glycogen metabolism in rat embryos and fetal organs, Biol. Neonate, 59, 294, 10.1159/000243363
Pederson, 2004, Abnormal cardiac development in the absence of heart glycogen, Mol. Cell Biol., 24, 7179, 10.1128/MCB.24.16.7179-7187.2004