Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
CTSB
Parkinson’s disease
familial forms
fibroblasts
monogenic forms
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:
25 Jun 2022
25 Jun 2022
Historique:
received:
23
04
2022
revised:
17
06
2022
accepted:
22
06
2022
entrez:
9
7
2022
pubmed:
10
7
2022
medline:
14
7
2022
Statut:
epublish
Résumé
Parkinson's disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the role of mutations in Cathepsin B
Identifiants
pubmed: 35806091
pii: ijms23137086
doi: 10.3390/ijms23137086
pmc: PMC9266886
pii:
doi:
Substances chimiques
CTSB protein, human
EC 3.4.22.1
Cathepsin B
EC 3.4.22.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NINDS NIH HHS
ID : RF1 NS085070
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS110435
Pays : United States
Organisme : NIH HHS
ID : 1U19AG063911
Pays : United States
Références
Signal Transduct Target Ther. 2021 Nov 8;6(1):379
pubmed: 34744168
Sci Rep. 2021 May 10;11(1):9879
pubmed: 33972609
Mov Disord. 2011 Jun;26(7):1234-42
pubmed: 21469201
Brain. 2019 Jan 1;143(1):234-248
pubmed: 31755958
J Mol Biol. 2000 Sep 8;302(1):205-17
pubmed: 10964570
EMBO Mol Med. 2019 Aug;11(8):e10409
pubmed: 31282614
J Clin Neurosci. 2020 Feb;72:501-503
pubmed: 31892495
J Med Chem. 2018 Feb 8;61(3):989-1000
pubmed: 29227683
PLoS One. 2016 Nov 30;11(11):e0167428
pubmed: 27902765
Exp Ther Med. 2019 Oct;18(4):2833-2842
pubmed: 31572530
Annu Rev Cell Dev Biol. 2016 Oct 6;32:223-253
pubmed: 27501449
Front Neurol. 2019 Dec 13;10:1284
pubmed: 31920912
Eur J Neurol. 2020 Jan;27(1):27-42
pubmed: 31631455
Genome Biol. 2017 Jan 30;18(1):22
pubmed: 28137300
J Cell Sci. 2015 Jan 15;128(2):385-96
pubmed: 25413345
Curr Pharm Des. 2007;13(4):387-403
pubmed: 17311556
Brain. 2022 Jan 30;:
pubmed: 35094046
Cell Mol Neurobiol. 2018 Aug;38(6):1153-1178
pubmed: 29700661
J Neurochem. 2009 Nov;111(3):703-15
pubmed: 19712061
J Neurochem. 2020 Nov;155(3):300-312
pubmed: 32330298
Front Aging Neurosci. 2017 Jul 19;9:229
pubmed: 28769786
FEBS Lett. 1985 Feb 11;181(1):169-72
pubmed: 3972105
Brain. 2017 Jan;140(1):98-117
pubmed: 27807026
Lancet Neurol. 2019 Dec;18(12):1091-1102
pubmed: 31701892
J Neurol Sci. 2018 Mar 15;386:39-45
pubmed: 29406964
Sci Rep. 2016 Sep 22;6:33850
pubmed: 27653456
Proc Natl Acad Sci U S A. 2015 Jul 28;112(30):9322-7
pubmed: 26170293
Acta Crystallogr D Biol Crystallogr. 2011 Apr;67(Pt 4):386-94
pubmed: 21460457
Autophagy. 2016 Dec;12(12):2504-2505
pubmed: 27786577
Nucleic Acids Res. 2006 Jul 1;34(Web Server issue):W604-8
pubmed: 16845081
J Biol Chem. 2019 Jun 21;294(25):9973-9984
pubmed: 31092553
Mov Disord. 2015 Oct;30(12):1591-601
pubmed: 26474316
Neurol Neurochir Pol. 2020;54(5):416-425
pubmed: 32639019
Parkinsonism Relat Disord. 2013 Jan;19(1):72-6
pubmed: 22884254
Parkinsonism Relat Disord. 2018 Jan;46 Suppl 1:S30-S33
pubmed: 28780180
Am J Hum Genet. 2013 Nov 7;93(5):984-93
pubmed: 24183452
Mol Neurodegener. 2017 Apr 24;12(1):32
pubmed: 28438176
Autophagy. 2021 Sep;17(9):2613-2628
pubmed: 33112198
Nucleic Acids Res. 2014 Jul;42(Web Server issue):W320-4
pubmed: 24753421
Neurol Neurochir Pol. 2021;55(3):241-252
pubmed: 33539026