Amino Acid Sequence
Animals
Autophagosomes
/ metabolism
Autophagy
Disease Models, Animal
Down-Regulation
/ genetics
Drosophila Proteins
/ chemistry
Drosophila melanogaster
/ enzymology
Genes, Essential
Glycolysis
Lipogenesis
Locomotion
Longevity
Lysosomes
/ metabolism
Mucopolysaccharidosis I
/ enzymology
Muscles
/ metabolism
Organ Specificity
Phenotype
RNA Interference
D-idua
Drosophila melanogaster
Hurler syndrome
IDUA
MPS I
RNAi
fly models
lysosomal storage disorders
mucopolysaccharidosis type I
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
31 12 2021
31 12 2021
Historique:
received:
24
11
2021
revised:
22
12
2021
accepted:
28
12
2021
entrez:
11
1
2022
pubmed:
12
1
2022
medline:
4
3
2022
Statut:
epublish
Résumé
Deficit of the IDUA (α-L-iduronidase) enzyme causes the lysosomal storage disorder mucopolysaccharidosis type I (MPS I), a rare pediatric neurometabolic disease, due to pathological variants in the
Identifiants
pubmed: 35011691
pii: cells11010129
doi: 10.3390/cells11010129
pmc: PMC8750945
pii:
doi:
Substances chimiques
Drosophila Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Fondazione Istituto di Ricerca Pediatrica 'Città della Speranza'
ID : 19/05
Organisme : University of Padua
ID : SID-018
Références
J Inherit Metab Dis. 2011 Dec;34(6):1183-97
pubmed: 21744090
Genet Mol Biol. 2010 Oct;33(4):589-604
pubmed: 21637564
Biochem J. 2015 Sep 15;470(3):331-42
pubmed: 26195823
Life (Basel). 2020 Oct 30;10(11):
pubmed: 33142967
Orphanet J Rare Dis. 2017 Jun 15;12(1):112
pubmed: 28619065
Ital J Pediatr. 2018 Nov 16;44(Suppl 2):121
pubmed: 30442188
Ann Neurol. 2014 Nov;76(5):747-53
pubmed: 25103575
Autophagy. 2012 May 1;8(5):719-30
pubmed: 22647656
Pediatrics. 2009 Jan;123(1):19-29
pubmed: 19117856
EMBO J. 2010 Nov 3;29(21):3607-20
pubmed: 20871593
Front Pharmacol. 2016 Sep 23;7:315
pubmed: 27721792
Anal Biochem. 1993 May 1;210(2):282-91
pubmed: 8512063
Pediatrics. 2007 Jul;120(1):e37-46
pubmed: 17606547
J Pediatr. 2004 May;144(5 Suppl):S27-34
pubmed: 15126981
Eur J Pharmacol. 2020 Dec 5;888:173534
pubmed: 32877657
J Cell Sci. 2020 Nov 9;133(21):
pubmed: 33077556
Dis Model Mech. 2017 Jun 1;10(6):737-750
pubmed: 28389479
Annu Rev Physiol. 2016;78:23-44
pubmed: 26474213
Mol Genet Metab. 2010 Jan;99(1):62-71
pubmed: 19751987
Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v19-25
pubmed: 22210666
J Vis Exp. 2011 Mar 11;(49):
pubmed: 21445036
Gene Ther. 2012 Apr;19(4):355-64
pubmed: 21716300
Cardiovasc Pathol. 2017 Mar - Apr;27:45-50
pubmed: 28104572
Autophagy. 2012 Jun;8(6):903-14
pubmed: 22576015
Neurodegener Dis. 2016;16(5-6):324-36
pubmed: 27197982
Clin Genet. 1998 May;53(5):349-61
pubmed: 9660052
Cell. 2010 Feb 5;140(3):313-26
pubmed: 20144757
Semin Immunopathol. 2010 Dec;32(4):363-72
pubmed: 20798940
J Neurosci. 2016 Nov 16;36(46):11654-11670
pubmed: 27852774
Orphanet J Rare Dis. 2021 Feb 23;16(1):99
pubmed: 33622387
Dis Model Mech. 2018 Nov 20;11(11):
pubmed: 30459155
Cells. 2017 Jul 12;6(3):
pubmed: 28704946
Mol Ther Methods Clin Dev. 2015 Feb 11;2:14068
pubmed: 26052536
EBioMedicine. 2021 Jan;63:103166
pubmed: 33341443
Pathogenetics. 2009 Jun 16;2(1):4
pubmed: 19531206
Br J Pharmacol. 2010 Mar;159(5):1082-91
pubmed: 20136838
Curr Biol. 2012 Sep 11;22(17):1616-21
pubmed: 22863314
Autophagy. 2007 Nov-Dec;3(6):542-5
pubmed: 17611390
Biosci Rep. 2020 Apr 30;40(4):
pubmed: 32285908
Cell Mol Neurobiol. 2009 Jun;29(4):443-8
pubmed: 19109767
PLoS One. 2012;7(4):e35787
pubmed: 22558223
Front Physiol. 2019 Mar 18;10:263
pubmed: 30936838
Exp Neurol. 2018 May;303:38-47
pubmed: 29408731
Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1902-7
pubmed: 12576554
J Clin Med. 2019 Sep 09;8(9):
pubmed: 31505865
Cell Commun Signal. 2019 Oct 21;17(1):131
pubmed: 31638999
Development. 2005 Nov;132(22):5115-24
pubmed: 16221727
PLoS One. 2013 Aug 02;8(8):e69147
pubmed: 23936319
Nat Commun. 2020 Aug 13;11(1):4056
pubmed: 32792483
Int J Clin Exp Pathol. 2014 May 15;7(6):3488-97
pubmed: 25031781
Hum Mol Genet. 1997 Apr;6(4):503-11
pubmed: 9097952
Cold Spring Harb Protoc. 2014 Sep 02;2014(9):967-72
pubmed: 25183817
J Cell Physiol. 2010 May;223(2):335-42
pubmed: 20082302
EMBO J. 2020 Jul 15;39(14):e103812
pubmed: 32488939
Proc Natl Acad Sci U S A. 2015 Sep 15;112(37):11720-5
pubmed: 26324901
Cell. 2008 Nov 28;135(5):838-51
pubmed: 19041749
Physiol Rev. 2010 Oct;90(4):1383-435
pubmed: 20959619
Nat Methods. 2012 Jul;9(7):671-5
pubmed: 22930834
Biomedicines. 2021 Mar 07;9(3):
pubmed: 33800050
J Biol Chem. 2009 Oct 23;284(43):29684-91
pubmed: 19700765
Brain Res. 2006 Mar 3;1076(1):225-30
pubmed: 16473336
Front Neurosci. 2019 Nov 19;13:1202
pubmed: 31803000
Orphanet J Rare Dis. 2015 Sep 25;10:121
pubmed: 26407983
Genesis. 2002 Sep-Oct;34(1-2):1-15
pubmed: 12324939
Kaohsiung J Med Sci. 2021 Jan;37(1):12-19
pubmed: 33021078
J Clin Med. 2020 Aug 11;9(8):
pubmed: 32796538
Hum Mol Genet. 2008 Jan 1;17(1):119-29
pubmed: 17913701