Mucopolysaccharidosis III: Molecular basis and treatment.
Mukopolisacharydoza III: podstawy molekularne i leczenie.
clinical diagnosis.
glycosaminoglycan
lysosomal storage diseases (LSDs)
therapy for mucopolysccharidosis
mucopolysaccharidosis III (MPS III)
Journal
Pediatric endocrinology, diabetes, and metabolism
ISSN: 2083-8441
Titre abrégé: Pediatr Endocrinol Diabetes Metab
Pays: Poland
ID NLM: 101518750
Informations de publication
Date de publication:
2021
2021
Historique:
entrez:
8
11
2021
pubmed:
9
11
2021
medline:
10
11
2021
Statut:
ppublish
Résumé
Mucopolysaccharidoses (MPSs) are known as rare genetic diseases which are caused by mutation in the enzyme heparin sulfate, which normally leads to degradation and accumulation of glycosaminoglycans in the cells. There are 11 types of MPSs, whereby neuropathy may occur in seven of them (MPS I, II, IIIA, IIIB, IIIC, IIID and VII). Accumulation of degraded heparin sulfate in lysosomes causes cellular dysfunction and malfunction of several organs. However, the exact molecular mechanism how protein degradation and storage leads to cellular dysfunction is not understood, yet. Nonetheless, several genetic and biochemical methods for diagnosis of MPSs are available nowadays. Here we provide an overview on known molecular basis of MPS in general, including enzyme defects and symptoms of MPS; however, the main focus is on MPS type III together with potential and perspective therapy-options.
Identifiants
pubmed: 34743503
pii: 45203
doi: 10.5114/pedm.2021.109270
pmc: PMC10228206
pii:
doi:
Substances chimiques
Glycosaminoglycans
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
201-208Références
Metab Brain Dis. 2012 Jun;27(2):121-9
pubmed: 22527994
Am J Hum Genet. 1998 Jan;62(1):53-63
pubmed: 9443875
Hum Mutat. 1998;11(4):313-20
pubmed: 9554748
Nat Genet. 1995 Dec;11(4):465-7
pubmed: 7493035
Lancet Neurol. 2017 Sep;16(9):712-720
pubmed: 28713035
Intractable Rare Dis Res. 2014 Aug;3(3):79-86
pubmed: 25364648
Int J Mol Sci. 2020 Feb 10;21(3):
pubmed: 32050523
Ann Dermatol. 2015 Dec;27(6):658-66
pubmed: 26719633
Mol Genet Metab. 2010 Oct-Nov;101(2-3):208-13
pubmed: 20650670
Mov Disord. 2012 Feb;27(2):312-5
pubmed: 22102531
Metabolites. 2014 Dec 11;4(4):1088-100
pubmed: 25513953
Clin Chem. 1992 Jun;38(6):803-7
pubmed: 1597005
Eur J Biochem. 1977 Nov 1;80(2):523-33
pubmed: 411658
Mol Ther. 2012 Aug;20(8):1610-21
pubmed: 22547151
Mol Ther Methods Clin Dev. 2019 Dec 10;17:174-187
pubmed: 31909089
Brain. 2018 Jan 1;141(1):99-116
pubmed: 29186350
Hum Mutat. 2001 Oct;18(4):264-81
pubmed: 11668611
Biochim Biophys Acta Mol Basis Dis. 2019 Nov 1;1865(11):165539
pubmed: 31465828
Tunis Med. 2009 Nov;87(11):782-5
pubmed: 20209839
Eur J Hum Genet. 2010 Feb;18(2):200-5
pubmed: 19690584
Mol Ther Methods Clin Dev. 2018 Jul 23;10:113-127
pubmed: 30101150
Mol Genet Metab. 2004 Aug;82(4):273-85
pubmed: 15308125
Mol Genet Metab. 2006 Aug;88(4):307-14
pubmed: 16600651
Hum Mutat. 2007 May;28(5):523
pubmed: 17397050
Anal Biochem. 1982 Jan 1;119(1):120-7
pubmed: 6803608
Elife. 2021 Jul 14;10:
pubmed: 34259630
Connect Tissue Res. 1982;9(4):247-8
pubmed: 6215207
Cell Transplant. 1995 Jul-Aug;4(4):385-92
pubmed: 7582569
Hum Mutat. 1997;10(6):479-85
pubmed: 9401012
Hum Mol Genet. 1997 Sep;6(9):1573-9
pubmed: 9285796
Curr Opin Neurol. 2017 Oct;30(5):471-480
pubmed: 28678038
Hum Gene Ther. 2014 Jun;25(6):506-16
pubmed: 24524415
J Pediatr. 2004 May;144(5 Suppl):S27-34
pubmed: 15126981
Mol Genet Metab. 2016 Feb;117(2):66-83
pubmed: 26597321
Am J Hum Genet. 2006 Oct;79(4):738-44
pubmed: 16960811
Mol Genet Metab Rep. 2015 Dec 07;6:48-54
pubmed: 27014573
Proc Natl Acad Sci U S A. 2012 Jun 26;109(26):10310-5
pubmed: 22689975
Acta Paediatr. 2013 May;102(5):462-70
pubmed: 23336697
Mol Genet Metab. 2007 Mar;90(3):313-28
pubmed: 17166757
Mol Genet Metab. 2008 Feb;93(2):104-11
pubmed: 18024218
Proc Natl Acad Sci U S A. 1980 Nov;77(11):6822-6
pubmed: 6450420
Biochem Biophys Res Commun. 1973 Oct 1;54(3):1111-8
pubmed: 4201808
Mol Ther. 2015 Jul;23(7):1138-1148
pubmed: 25881001
J Appl Genet. 2015 May;56(2):205-10
pubmed: 25472774
Proc Natl Acad Sci U S A. 1996 Jun 11;93(12):6101-5
pubmed: 8650226
Proc Natl Acad Sci U S A. 1978 Oct;75(10):5185-9
pubmed: 33384
J Inherit Metab Dis. 2018 Jul;41(4):669-677
pubmed: 29520737
Sci Rep. 2015 Mar 23;5:9378
pubmed: 25797591
Anal Chem. 2006 Jul 1;78(13):4534-42
pubmed: 16808463
J Biol Chem. 2014 Jun 13;289(24):17054-69
pubmed: 24770416
Proc Jpn Acad Ser B Phys Biol Sci. 2014;90(5):145-62
pubmed: 24814990
Neuropharmacology. 2018 Jan;128:448-459
pubmed: 29109058
Transl Psychiatry. 2017 May 9;7(5):e1126
pubmed: 28485729
Hum Mutat. 2010 May;31(5):E1348-60
pubmed: 20232353
Gene Ther. 2014 Dec;21(12):1001-7
pubmed: 25142140
Eur J Hum Genet. 2006 Jul;14(7):846-52
pubmed: 16670689
Eur J Hum Genet. 1999 Jan;7(1):34-44
pubmed: 10094189
Hum Genet. 1999 Jul-Aug;105(1-2):151-6
pubmed: 10480370
Acta Paediatr. 2010 Aug;99(8):1253-7
pubmed: 20337777
Eur J Hum Genet. 2004 Feb;12(2):87-92
pubmed: 14685153
Mol Ther Methods Clin Dev. 2019 Apr 06;13:399-413
pubmed: 31044143
Am J Med Genet A. 2009 May;149A(5):960-4
pubmed: 19396827
Pathology. 2019 Feb;51(2):165-176
pubmed: 30598326
Annu Rev Med. 2015;66:471-86
pubmed: 25587658
J Inherit Metab Dis. 2010 Aug;33(4):387-96
pubmed: 20490927
Ageing Res Rev. 2016 Dec;32:104-121
pubmed: 27516378
Rev Neurosci. 2018 Nov 27;29(8):817-824
pubmed: 29791316
Mol Ther. 2013 Oct;21(10):1938-49
pubmed: 23748415
J Biol Chem. 2008 Apr 25;283(17):11388-95
pubmed: 18283100
Mol Genet Metab. 2009 Nov;98(3):235-42
pubmed: 19632871
Mol Genet Metab. 2017 Jul;121(3):227-240
pubmed: 28595941
Eur J Hum Genet. 2010 Feb;18(2):194-9
pubmed: 19690583
J Med Genet. 2011 Jun;48(6):422-5
pubmed: 21415080
PLoS One. 2012;7(4):e35787
pubmed: 22558223
Acta Paediatr. 2008 Nov;97(11):1577-81
pubmed: 18681890
Anadolu Psikiyatri Derg. 2015;16(6):426-432
pubmed: 26345476
Exp Neurol. 2010 Oct;225(2):445-54
pubmed: 20673764
Int J Dev Neurosci. 2016 Dec;55:117-123
pubmed: 27071691
Curr Ther Res Clin Exp. 2008 Apr;69(2):166-79
pubmed: 24692796
Hum Mol Genet. 2007 Nov 15;16(22):2693-702
pubmed: 17725987
Ann Transl Med. 2018 Dec;6(24):476
pubmed: 30740407
Pediatr Res. 2004 Nov;56(5):733-8
pubmed: 15347771
Expert Rev Mol Med. 2008 Jan 18;10:e1
pubmed: 18201392
Orphanet J Rare Dis. 2018 Apr 10;13(1):53
pubmed: 29631636
Clin Exp Dermatol. 2005 Jul;30(4):398-404
pubmed: 15953081
Biochem Biophys Res Commun. 1988 Nov 30;157(1):218-24
pubmed: 3196333
JAMA. 1999 Jan 20;281(3):249-54
pubmed: 9918480
Expert Opin Ther Targets. 2018 Jan;22(1):19-29
pubmed: 29168923
Stem Cell Reports. 2015 May 12;4(5):835-46
pubmed: 25866157
Prenat Diagn. 2005 Feb;25(2):148-50
pubmed: 15712374
J Med Genet. 2012 Sep;49(9):591-7
pubmed: 22892202
Cell Calcium. 2007 Oct-Nov;42(4-5):363-71
pubmed: 17618683
Eur J Hum Genet. 2002 Dec;10(12):813-8
pubmed: 12461688
Am J Hum Genet. 2006 Nov;79(5):807-19
pubmed: 17033958
Genet Test Mol Biomarkers. 2012 Aug;16(8):846-9
pubmed: 22480138