Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.
animal models
glycogen storage diseases
therapy
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
17 Dec 2020
17 Dec 2020
Historique:
received:
16
11
2020
revised:
11
12
2020
accepted:
15
12
2020
entrez:
22
12
2020
pubmed:
23
12
2020
medline:
16
3
2021
Statut:
epublish
Résumé
GSD are a group of disorders characterized by a defect in gene expression of specific enzymes involved in glycogen breakdown or synthesis, commonly resulting in the accumulation of glycogen in various tissues (primarily the liver and skeletal muscle). Several different GSD animal models have been found to naturally present spontaneous mutations and others have been developed and characterized in order to further understand the physiopathology of these diseases and as a useful tool to evaluate potential therapeutic strategies. In the present work we have reviewed a total of 42 different animal models of GSD, including 26 genetically modified mouse models, 15 naturally occurring models (encompassing quails, cats, dogs, sheep, cattle and horses), and one genetically modified zebrafish model. To our knowledge, this is the most complete list of GSD animal models ever reviewed. Importantly, when all these animal models are analyzed together, we can observe some common traits, as well as model specific differences, that would be overlooked if each model was only studied in the context of a given GSD.
Identifiants
pubmed: 33348688
pii: ijms21249621
doi: 10.3390/ijms21249621
pmc: PMC7766110
pii:
doi:
Substances chimiques
Glycogen
9005-79-2
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Fondo de Investigaciones Sanitarias and cofunded by 'Fondos FEDER
ID : PI19/01313
Références
Neuromuscul Disord. 1996 Jan;6(1):19-26
pubmed: 8845714
J Biol Chem. 1998 Mar 13;273(11):6144-8
pubmed: 9497333
J Vet Med A Physiol Pathol Clin Med. 2007 Jun;54(5):257-9
pubmed: 17523960
Mol Genet Metab. 2014 Apr;111(4):467-76
pubmed: 24613482
Gene Ther. 2010 Apr;17(4):521-30
pubmed: 20033064
Am J Hum Genet. 1998 Apr;62(4):785-91
pubmed: 9529348
Mol Ther. 2014 Apr;22(4):702-12
pubmed: 24336173
J Pharm Sci. 2018 Mar;107(3):831-837
pubmed: 29102549
Hum Gene Ther. 2008 Jun;19(6):609-21
pubmed: 18500944
Vet Clin Pathol. 2009 Mar;38(1):46-51
pubmed: 19228357
Hum Mutat. 2015 Jul;36(7):669-78
pubmed: 25914343
J Biol Chem. 1996 Aug 16;271(33):20070-4
pubmed: 8702726
J Inherit Metab Dis. 2015 May;38(3):505-9
pubmed: 25224826
Brain. 2012 Jul;135(Pt 7):2048-57
pubmed: 22730558
Rev Int Hepatol. 1959;9(1):35-55
pubmed: 13646331
Nat Genet. 1996 Jun;13(2):203-9
pubmed: 8640227
Hum Mol Genet. 1998 Jan;7(1):53-62
pubmed: 9384603
Gene Ther. 2002 Aug;9(15):1015-22
pubmed: 12101432
Eur J Pediatr. 1994 Aug;153(8):581-3
pubmed: 7957405
JAMA. 1989 Nov 17;262(19):2716-20
pubmed: 2810604
Vet Pathol. 2001 Jan;38(1):83-91
pubmed: 11199168
Clin Immunol. 2015 Jun;158(2):140-7
pubmed: 25842186
Mol Ther. 2005 Jun;11(6):889-98
pubmed: 15922959
Acta Vet Scand. 1970;11(2):197-208
pubmed: 5270856
J Clin Endocrinol Metab. 2017 Aug 1;102(8):2690-2700
pubmed: 28453664
Kidney Int. 2014 Oct;86(4):747-56
pubmed: 24717294
Comp Biochem Physiol B. 1992 Mar;101(3):303-7
pubmed: 1533828
J Biol Chem. 1998 Jul 24;273(30):19086-92
pubmed: 9668092
Biochem Biophys Res Commun. 1996 Mar 7;220(1):72-7
pubmed: 8602861
Adv Exp Med Biol. 2020;1236:225-244
pubmed: 32304075
Mol Ther. 2008 Aug;16(8):1366-71
pubmed: 18560415
Endocrinol Metab Clin North Am. 1999 Dec;28(4):801-23
pubmed: 10609121
Muscle Nerve. 1989 Aug;12(8):670-8
pubmed: 2506448
Neuromuscul Disord. 2015 Feb;25(2):111-9
pubmed: 25455802
Nat Clin Pract Neurol. 2008 Oct;4(10):568-77
pubmed: 18833216
Neurology. 1998 Nov;51(5):1456-9
pubmed: 9818881
Proc Natl Acad Sci U S A. 1985 Dec;82(23):8109-13
pubmed: 2933748
Ultrastruct Pathol. 2011 Oct;35(5):183-96
pubmed: 21910565
J Pediatr. 2006 May;148(5):671-676
pubmed: 16737883
J Biol Chem. 1952 Dec;199(2):653-60
pubmed: 13022672
J Inherit Metab Dis. 2007 Oct;30(5):722-34
pubmed: 17705025
Mol Ther. 2013 Sep;21(9):1661-7
pubmed: 23732990
Muscle Nerve. 1980 Nov-Dec;3(6):456-67
pubmed: 6450324
PLoS Genet. 2014 Nov 13;10(11):e1004711
pubmed: 25392908
J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S103-6
pubmed: 19322675
Gene Ther. 2006 Feb;13(4):321-9
pubmed: 16195703
J Inherit Metab Dis. 2019 May;42(3):470-479
pubmed: 30714174
Muscle Nerve. 2001 Aug;24(8):984-99
pubmed: 11439374
Hum Gene Ther. 2013 Jun;24(6):630-40
pubmed: 23570273
Eur J Biochem. 1967 Oct;2(3):265-70
pubmed: 5235982
NDT Plus. 2010 Aug;3(4):335-7
pubmed: 25949423
Antimicrob Agents Chemother. 1991 Aug;35(8):1527-31
pubmed: 1929323
Acta Neuropathol Commun. 2017 Sep 6;5(1):66
pubmed: 28874182
South Med J. 1989 Oct;82(10):1259-61
pubmed: 2678501
Ann Neurol. 1979 May;5(5):422-36
pubmed: 288318
Hum Gene Ther. 2016 Jan;27(1):43-59
pubmed: 26603344
Mol Ther. 2012 Dec;20(12):2201-11
pubmed: 22990675
PLoS One. 2014 Oct 08;9(10):e108706
pubmed: 25296331
Gene Ther. 2012 Apr;19(4):443-52
pubmed: 21654821
Neuromuscul Disord. 1997 Jul;7(5):336-42
pubmed: 9267848
Neuromuscul Disord. 2019 Mar;29(3):167-186
pubmed: 30770310
J Inherit Metab Dis. 2015 Mar;38(2):221-30
pubmed: 25053163
J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1182-8
pubmed: 20861058
Muscle Nerve. 2012 Mar;45(3):436-40
pubmed: 22334182
J Biol Chem. 1956 Jan;218(1):123-9
pubmed: 13278321
Mol Ther Methods Clin Dev. 2020 Jun 02;18:240-249
pubmed: 32637453
Hum Gene Ther. 2017 Mar;28(3):286-294
pubmed: 27832700
J Inherit Metab Dis. 1995;18(4):462-72
pubmed: 7494404
Brain. 2009 Jun;132(Pt 6):1545-52
pubmed: 19433441
Mol Genet Metab. 2007 Apr;90(4):383-92
pubmed: 17257876
J Vet Intern Med. 2001 Nov-Dec;15(6):572-80
pubmed: 11817063
Mol Ther. 2018 Jul 5;26(7):1771-1782
pubmed: 29784585
Hum Gene Ther. 2019 Oct;30(10):1245-1262
pubmed: 31298581
Autophagy. 2012 Nov;8(11):1697-700
pubmed: 22940840
Blood. 1985 Feb;65(2):345-51
pubmed: 3155631
FASEB J. 2013 Jan;27(1):34-44
pubmed: 22993195
J Hepatol. 2013 Feb;58(2):350-7
pubmed: 23046672
Mol Genet Metab. 2017 Mar;120(3):163-172
pubmed: 28185884
J Hepatol. 2007 Mar;46(3):492-8
pubmed: 17196294
Nat Biotechnol. 2012 Dec;30(12):1225-31
pubmed: 23159880
Physiol Rev. 1992 Apr;72(2):507-62
pubmed: 1557431
Diabetes. 2005 Dec;54(12):3466-73
pubmed: 16306363
Ann Transl Med. 2019 Jul;7(13):288
pubmed: 31392200
Pediatr Res. 2011 Dec;70(6):638-41
pubmed: 21857385
Cell Struct Funct. 2002 Dec;27(6):421-9
pubmed: 12576635
Hum Mol Genet. 2003 Oct 1;12(19):2547-58
pubmed: 12925567
Am J Transl Res. 2014 Jan 15;6(2):114-8
pubmed: 24489990
Blood. 2010 Jul 1;115(26):5329-37
pubmed: 20385789
N Engl J Med. 1984 Jan 19;310(3):171-5
pubmed: 6581385
Aust Vet J. 1987 Sep;64(9):278-80
pubmed: 3480704
Hum Mol Genet. 2002 Sep 1;11(18):2155-64
pubmed: 12189168
Vet Q. 1985 Jul;7(3):187-90
pubmed: 3901497
Hum Mol Genet. 2020 Jan 1;29(1):20-30
pubmed: 31511858
J Soc Biol. 2009;203(3):219-25
pubmed: 19833068
Mol Ther. 2002 May;5(5 Pt 1):571-8
pubmed: 11991748
J Biol Chem. 2013 Jan 18;288(3):1428-38
pubmed: 23188827
Curr Gene Ther. 2007 Apr;7(2):79-88
pubmed: 17430128
J Inherit Metab Dis. 2020 Jul;43(4):770-777
pubmed: 32064649
Mo Med. 2013 May-Jun;110(3):201-5
pubmed: 23829102
N Engl J Med. 2010 Apr 1;362(13):1203-10
pubmed: 20357282
Brain Dev. 1991 Jul;13(4):247-55
pubmed: 1957974
Genet Med. 2010 Jul;12(7):413-23
pubmed: 20526204
Dev Med Child Neurol. 2018 Jun;60(6):579-586
pubmed: 29573408
J Am Anim Hosp Assoc. 2011 Mar-Apr;47(2):145-50
pubmed: 21311071
Neuromuscul Disord. 1998 May;8(3-4):210-2
pubmed: 9631404
Curr Mol Med. 2002 Mar;2(2):197-212
pubmed: 11949936
J Hepatol. 2011 Mar;54(3):529-37
pubmed: 21109326
Am J Hum Genet. 2007 Nov;81(5):1042-9
pubmed: 17924344
Front Neurol. 2020 Feb 04;11:57
pubmed: 32117019
Neuromuscul Disord. 2014 Feb;24(2):167-77
pubmed: 24309536
J Biol Chem. 2002 Sep 6;277(36):32837-42
pubmed: 12093795
Aust N Z J Med. 1985 Dec;15(6):748-50
pubmed: 3869441
J Inherit Metab Dis. 2015 May;38(3):511-9
pubmed: 25288127
Dis Model Mech. 2012 Nov;5(6):804-11
pubmed: 22736456
Mol Ther. 2005 Nov;12(5):876-84
pubmed: 16005263
J Inherit Metab Dis. 2018 Nov;41(6):1015-1025
pubmed: 29967951
Curr Opin Neurol. 1998 Oct;11(5):477-84
pubmed: 9847997
BMC Genomics. 2017 Nov 14;18(Suppl 8):819
pubmed: 29143597
EBioMedicine. 2020 Nov;61:103052
pubmed: 33039711
Hum Mol Genet. 2015 Dec 1;24(23):6801-10
pubmed: 26385640
Mol Ther. 2010 Mar;18(3):502-10
pubmed: 20104213
J Pediatr. 2000 Aug;137(2):283-5
pubmed: 10931430
Cell Metab. 2017 Jul 5;26(1):256-266.e4
pubmed: 28683291
Dis Model Mech. 2015 May;8(5):467-72
pubmed: 25762569
Neuromuscul Disord. 2008 Mar;18(3):248-58
pubmed: 18343113
J Exp Med. 2009 Sep 28;206(10):2285-97
pubmed: 19770270
J Gene Med. 2009 Oct;11(10):913-20
pubmed: 19621331
Int J Biochem Cell Biol. 2020 Jan;118:105658
pubmed: 31747538
Muscle Nerve Suppl. 1995;3:S23-7
pubmed: 7603523
JAMA. 1965 Nov 22;194(8):872-6
pubmed: 5321495
Am J Med Genet. 1984 Nov;19(3):589-98
pubmed: 6391168
FASEB J. 1990 Sep;4(12):2978-88
pubmed: 2168325
Eur J Pediatr. 2002 Oct;161 Suppl 1:S112-9
pubmed: 12373584
J Neurol Sci. 1996 Mar;136(1-2):174-7
pubmed: 8815168
Biochim Biophys Acta. 2014 Nov;1842(11):2318-28
pubmed: 25092169
Hepatol Commun. 2019 Sep 24;3(11):1544-1555
pubmed: 31701076
Transplant Proc. 2011 May;43(4):1181-3
pubmed: 21620082
Physiol Behav. 2011 Nov 30;105(1):89-93
pubmed: 21402089
Acta Neuropathol Commun. 2018 Nov 7;6(1):119
pubmed: 30404653
Autophagy. 2010 Nov;6(8):1078-89
pubmed: 20861693
J Inherit Metab Dis. 2016 Sep;39(5):697-704
pubmed: 27106217
Hum Mol Genet. 2008 Dec 15;17(24):3897-908
pubmed: 18782848
Neurotherapeutics. 2018 Oct;15(4):928-942
pubmed: 30117059
Mol Ther Methods Clin Dev. 2018 Nov 17;12:85-101
pubmed: 30581888
Neuromuscul Disord. 2020 Sep;30(9):734-741
pubmed: 32811700
Arch Neurol. 2005 Sep;62(9):1440-3
pubmed: 16157752
Autophagy. 2015;11(2):385-402
pubmed: 25758767
Hum Mol Genet. 2017 Nov 15;26(22):4395-4405
pubmed: 28973635
Hum Mol Genet. 2001 Sep 15;10(19):2039-47
pubmed: 11590121
Front Aging Neurosci. 2014 Jul 23;6:177
pubmed: 25183957
Enzyme. 1988;40(1):25-9
pubmed: 2971529
Hum Gene Ther. 2015 Nov;26(11):743-50
pubmed: 26417913
Genet Med. 2019 Apr;21(4):772-789
pubmed: 30659246
Biochem Biophys Res Commun. 2020 Jun 30;527(3):824-830
pubmed: 32430177
IUBMB Life. 2001 Feb;51(2):87-91
pubmed: 11463169
J Clin Gastroenterol. 2000 Jul;31(1):80-2
pubmed: 10914784
Mol Ther. 2014 Nov;22(11):2004-12
pubmed: 25052852
Comp Med. 2016 Feb;66(1):41-51
pubmed: 26884409
J Pediatr Gastroenterol Nutr. 1997 Mar;24(3):276-9
pubmed: 9138172
Gene Ther. 2006 Sep;13(17):1281-9
pubmed: 16672983
Eur J Biochem. 1975 Feb 3;51(1):105-15
pubmed: 1122910
J Physiol. 2015 Jun 15;593(12):2693-706
pubmed: 25873271
Genet Med. 2010 Jul;12(7):446-63
pubmed: 20631546
Drug Des Devel Ther. 2010 Dec 22;5:9-26
pubmed: 21267356
J Neurol. 2014 Dec;261(12):2424-8
pubmed: 25267339
Mol Ther. 2008 Apr;16(4):665-72
pubmed: 18362924
Neuromuscul Disord. 2016 Jan;26(1):16-20
pubmed: 26652229
J Biol Chem. 1997 Oct 31;272(44):27589-97
pubmed: 9346895
Cell Mol Life Sci. 2007 Jul;64(14):1841-52
pubmed: 17447006
Acta Myol. 2007 Oct;26(2):105-7
pubmed: 18421897
Biochem Mol Med. 1997 Aug;61(2):168-77
pubmed: 9259982
Mol Genet Metab. 2017 Mar;120(3):229-234
pubmed: 28096054
J Biol Chem. 2005 Apr 29;280(17):17260-5
pubmed: 15711014
Arch Neurol. 2002 Jan;59(1):97-101
pubmed: 11790236
Eur J Pediatr. 2002 Oct;161 Suppl 1:S2-9
pubmed: 12373565
Muscle Nerve. 1995 Jul;18(7):736-40
pubmed: 7783763
Eur J Pediatr. 2020 Mar;179(3):405-413
pubmed: 31768638
Biochem J. 1981 Aug 15;198(2):409-12
pubmed: 7034730
EMBO Mol Med. 2009 Aug;1(5):268-79
pubmed: 20049730
Hum Gene Ther. 2012 May;23(5):460-72
pubmed: 22260439
Mol Ther. 2010 Jun;18(6):1076-84
pubmed: 20389290
Ann Hum Genet. 1981 Feb;45(1):5-14
pubmed: 6459054
N Engl J Med. 2003 Dec 25;349(26):2503-9
pubmed: 14695410
Curr Mol Med. 2002 Mar;2(2):177-88
pubmed: 11949934
Med Sci Sports Exerc. 2016 Aug;48(8):1448-58
pubmed: 27031745
Biochem J. 2012 Feb 1;441(3):763-87
pubmed: 22248338
Int J Surg. 2019 Dec;72:9-13
pubmed: 31627013
N Engl J Med. 1991 Feb 7;324(6):364-9
pubmed: 1824792
Hum Mol Genet. 2011 Nov 15;20(22):4430-9
pubmed: 21856731
Orphanet J Rare Dis. 2011 May 20;6:27
pubmed: 21599942
J Clin Invest. 1998 Feb 15;101(4):827-33
pubmed: 9466978
Eur J Pediatr. 2002 Oct;161 Suppl 1:S20-34
pubmed: 12373567
PLoS One. 2012;7(7):e40776
pubmed: 22815812
Dis Model Mech. 2020 Jan 13;13(1):
pubmed: 31848135
Mol Cell Probes. 2012 Dec;26(6):243-7
pubmed: 22446493
Arch Dis Child. 1963 Feb;38(197):40-8
pubmed: 21032403
Hum Gene Ther. 2010 Jul;21(7):903-10
pubmed: 20163245
J Biomed Biotechnol. 2011;2011:646257
pubmed: 21318173
J Hepatol. 2009 Nov;51(5):909-17
pubmed: 19376605
Eur J Pediatr. 2007 Oct;166(10):1009-16
pubmed: 17206455
Biochem J. 1988 May 1;251(3):677-83
pubmed: 2970843
Rev Endocr Metab Disord. 2003 Mar;4(1):95-102
pubmed: 12618563
J Fam Pract. 2012 May;61(5 Suppl):S28-31
pubmed: 22577639
Life Sci. 2002 Aug 2;71(11):1293-301
pubmed: 12106594
Mol Ther. 2018 Mar 7;26(3):890-901
pubmed: 29396266
N Z Vet J. 2004 Dec;52(6):404-8
pubmed: 15768143
Nat Rev Endocrinol. 2010 Dec;6(12):676-88
pubmed: 20975743
Mol Genet Metab. 2009 Dec;98(4):378-82
pubmed: 19699667
Hum Gene Ther. 2019 Jul;30(7):855-864
pubmed: 30803275
Hum Gene Ther. 2019 Jan;30(1):57-68
pubmed: 29901418
J Inherit Metab Dis. 2005;28(2):153-62
pubmed: 15877204
Neuromuscul Disord. 2000 Jun;10(4-5):283-91
pubmed: 10838256
Mol Genet Metab. 2014 Nov;113(3):171-6
pubmed: 25266922
Mol Ther. 2020 Sep 2;28(9):2056-2072
pubmed: 32526204
J Inherit Metab Dis. 1992;15(5):747-59
pubmed: 1434514
Mol Ther Methods Clin Dev. 2020 May 04;17:1014-1025
pubmed: 32462050
Curr Mol Med. 2002 Mar;2(2):121-43
pubmed: 11949931
Vet Pathol. 1995 Sep;32(5):460-5
pubmed: 8578635
J Neurol Sci. 1990 Dec;100(1-2):108-12
pubmed: 2089128
Biomolecules. 2020 Sep 18;10(9):
pubmed: 32962155
PLoS One. 2013;8(2):e56825
pubmed: 23457621
Gene Ther. 2007 Feb;14(3):219-26
pubmed: 17006547
J Biol Chem. 2001 Aug 3;276(31):28824-8
pubmed: 11375985
N Engl J Med. 2007 Oct 11;357(15):1507-14
pubmed: 17928598
World J Gastroenterol. 2007 May 14;13(18):2541-53
pubmed: 17552001
Mamm Genome. 2000 Mar;11(3):206-12
pubmed: 10723725
Sci Transl Med. 2017 Nov 29;9(418):
pubmed: 29187643
Biochem Biophys Res Commun. 1965 May 3;19:517-23
pubmed: 14339001
Mol Ther Methods Clin Dev. 2015 Mar 25;2:15007
pubmed: 26029718
Cell Immunol. 2019 Aug;342:103737
pubmed: 29295737
J Vet Intern Med. 2007 Jan-Feb;21(1):40-6
pubmed: 17338148
Mol Neurobiol. 2018 Jun;55(6):5299-5309
pubmed: 28895054
Biochem J. 2002 Mar 15;362(Pt 3):513-32
pubmed: 11879177
Hum Gene Ther Clin Dev. 2014 Sep;25(3):134-63
pubmed: 25238277
Mol Genet Metab. 2012 Feb;105(2):221-7
pubmed: 22154081
Sci Rep. 2020 Jun 25;10(1):10321
pubmed: 32587263
Lab Invest. 2009 Sep;89(9):1032-42
pubmed: 19581879
J Neuropathol Exp Neurol. 2016 May;75(5):441-54
pubmed: 27030740
Sci Rep. 2019 Mar 26;9(1):5116
pubmed: 30914683
PLoS Genet. 2009 Aug;5(8):e1000615
pubmed: 19696889
Comp Biochem Physiol B. 1988;89(1):105-9
pubmed: 2965634
Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:114-24
pubmed: 25345093
Mol Ther. 2009 Jun;17(6):964-71
pubmed: 19293774
Mol Cell Biol. 2004 Aug;24(16):7179-87
pubmed: 15282316
JIMD Rep. 2012;5:13-6
pubmed: 23430911
J Biol Chem. 2000 Jan 14;275(2):828-32
pubmed: 10625614
Mol Ther. 2009 Jun;17(6):954-63
pubmed: 19277015
Aust Vet J. 1993 Nov;70(11):405-8
pubmed: 8280022
J Inherit Metab Dis. 2018 Nov;41(6):965-976
pubmed: 30043186
Muscle Nerve. 1986 Sep;9(7):635-41
pubmed: 3531845
Clin Sci. 1951 Feb;10(1):13-35
pubmed: 24540673
Vet Pathol. 1983 May;20(3):312-21
pubmed: 6576505
Hum Gene Ther Clin Dev. 2017 Dec;28(4):208-218
pubmed: 29160099
Am J Clin Pathol. 1968 Jul;50(1):29-43
pubmed: 4872983
Arch Neurol. 2000 Jul;57(7):956-63
pubmed: 10891977
Am J Physiol Regul Integr Comp Physiol. 2014 Nov 15;307(10):R1251-9
pubmed: 25231351
Ann Clin Transl Neurol. 2019 Oct;6(10):1949-1960
pubmed: 31520525