Genetic variations in

GBA1 LRRK2 Parkinson's disease glucocerebrosidase lysosome

Journal

Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899

Informations de publication

Date de publication:
2022
Historique:
received: 16 06 2022
accepted: 25 07 2022
entrez: 29 8 2022
pubmed: 30 8 2022
medline: 30 8 2022
Statut: epublish

Résumé

Variants in the

Identifiants

pubmed: 36034282
doi: 10.3389/fneur.2022.971252
pmc: PMC9416236
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

971252

Informations de copyright

Copyright © 2022 Smith, Lee, Menozzi and Schapira.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Références

Mov Disord. 2018 Feb;33(2):196-207
pubmed: 29315801
Ann Neurol. 2016 Nov;80(5):766-775
pubmed: 27859541
Neurobiol Dis. 2015 Oct;82:235-242
pubmed: 26094596
Orphanet J Rare Dis. 2013 Sep 11;8:140
pubmed: 24020503
Brain. 2015 Sep;138(Pt 9):2648-58
pubmed: 26117366
Neurobiol Aging. 2014 May;35(5):1125-31
pubmed: 24355527
Nat Cell Biol. 2002 Feb;4(2):160-4
pubmed: 11813001
Cells. 2022 Mar 02;11(5):
pubmed: 35269482
Blood Cells Mol Dis. 2005 Sep-Oct;35(2):253-8
pubmed: 15967693
Blood Cells Mol Dis. 2011 Jan 15;46(1):4-10
pubmed: 21106416
Acta Neurol Belg. 2020 Dec;120(6):1297-1305
pubmed: 32813147
Cell. 2007 Nov 16;131(4):770-83
pubmed: 18022370
Mov Disord. 2020 Jan;35(1):185-190
pubmed: 31965629
Hum Mol Genet. 2005 Aug 15;14(16):2387-98
pubmed: 16000318
Ann Neurol. 2016 Nov;80(5):674-685
pubmed: 27717005
Mov Disord. 2018 Dec;33(12):1857-1870
pubmed: 30357936
Neurobiol Dis. 2015 Oct;82:495-503
pubmed: 26392287
Stem Cell Reports. 2017 Mar 14;8(3):728-742
pubmed: 28216145
Neuron. 2018 Jan 3;97(1):92-107.e10
pubmed: 29290548
Neurology. 2008 Jun 10;70(24):2277-83
pubmed: 18434642
Adv Neurobiol. 2017;14:241-264
pubmed: 28353288
FEBS J. 2018 Oct;285(19):3591-3603
pubmed: 29385658
J Med Chem. 2012 Jun 28;55(12):5734-48
pubmed: 22646221
Mov Disord. 2020 May;35(5):760-773
pubmed: 32034799
Enzyme Res. 2011;2011:973231
pubmed: 22145077
PLoS One. 2009 Dec 24;4(12):e8463
pubmed: 20041156
Proc Natl Acad Sci U S A. 2018 Sep 25;115(39):E9115-E9124
pubmed: 30209220
Proc Natl Acad Sci U S A. 2016 Jul 26;113(30):E4357-66
pubmed: 27357661
Neurology. 2006 Sep 12;67(5):908-10
pubmed: 16790605
Biochem Soc Trans. 2019 Apr 30;47(2):651-661
pubmed: 30837320
Cells. 2022 Apr 08;11(8):
pubmed: 35455941
Genet Med. 2013 Feb;15(2):146-9
pubmed: 22935721
Glycoconj J. 2016 Apr;33(2):237-44
pubmed: 27023912
Brain. 2017 Oct 1;140(10):2706-2721
pubmed: 28969384
Neuronal Signal. 2018 Oct 10;2(4):NS20180005
pubmed: 32714591
J Parkinsons Dis. 2017;7(s1):S71-S85
pubmed: 28282810
Biomedicines. 2022 Apr 12;10(4):
pubmed: 35453631
Mov Disord. 2020 May;35(5):833-844
pubmed: 32073681
Sci Transl Med. 2022 Jun 8;14(648):eabj2658
pubmed: 35675433
Neurology. 2011 Jul 19;77(3):276-80
pubmed: 21734182
Nat Chem Biol. 2007 Feb;3(2):101-7
pubmed: 17187079
EBioMedicine. 2018 Dec;38:142-153
pubmed: 30497978
J Pharmacol Exp Ther. 2015 Dec;355(3):397-409
pubmed: 26407721
Mov Disord. 2015 Mar;30(3):407-11
pubmed: 25448271
Biochem Biophys Res Commun. 2010 Feb 12;392(3):431-5
pubmed: 20079710
J Biol Chem. 1993 Jul 15;268(20):14861-6
pubmed: 8325864
J Biol Chem. 2009 Aug 28;284(35):23502-16
pubmed: 19578116
Mov Disord. 2016 Aug;31(8):1192-202
pubmed: 27091104
Mol Neurodegener. 2018 Jan 8;13(1):1
pubmed: 29310663
Parkinsonism Relat Disord. 2021 Mar;84:112-121
pubmed: 33609962
Drugs. 2019 Jul;79(10):1037-1051
pubmed: 31161537
EMBO J. 2020 Oct 15;39(20):e104862
pubmed: 32853409
Eur J Hum Genet. 2010 Dec;18(12):1356-9
pubmed: 20683486
Mov Disord. 2013 Oct;28(12):1740-4
pubmed: 23913756
Cell. 2021 Jun 24;184(13):3519-3527.e10
pubmed: 34107286
J Neurochem. 2011 Jan;116(2):304-15
pubmed: 21073465
Mol Genet Metab. 2003 Jun;79(2):104-9
pubmed: 12809640
Mov Disord. 2007 Dec;22(16):2439-43
pubmed: 17960808
Proc Natl Acad Sci U S A. 2013 Jan 15;110(3):966-71
pubmed: 23277556
Int J Mol Sci. 2021 May 01;22(9):
pubmed: 34062940
Front Mol Neurosci. 2018 Feb 15;11:43
pubmed: 29527153
Parkinsonism Relat Disord. 2018 Oct;55:45-49
pubmed: 29784561
Cochrane Database Syst Rev. 2015 Mar 27;(3):CD010324
pubmed: 25812601
Nature. 1997 Aug 28;388(6645):839-40
pubmed: 9278044
Nat Genet. 2009 Dec;41(12):1308-12
pubmed: 19915575
Mov Disord. 2017 Oct;32(10):1432-1438
pubmed: 28639421
Synapse. 2017 Jul;71(7):
pubmed: 28295625
Exp Mol Med. 2015 Mar 27;47:e153
pubmed: 25813221
Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):2699-2704
pubmed: 28223512
J Immunol. 2010 Nov 1;185(9):5577-85
pubmed: 20921534
J Theor Biol. 2019 May 21;469:163-171
pubmed: 30844370
Elife. 2016 Jan 29;5:
pubmed: 26824392
Brain. 2009 Jul;132(Pt 7):1783-94
pubmed: 19286695
Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):798-803
pubmed: 29311330
Hum Mol Genet. 2011 Nov 1;20(21):4209-23
pubmed: 21828077
J Neurol Neurosurg Psychiatry. 2012 Aug;83(8):853-4
pubmed: 22577228
Neurology. 2007 Sep 18;69(12):1270-7
pubmed: 17875915
Nat Commun. 2014 Jun 06;5:4028
pubmed: 24905578
EMBO J. 2018 Jan 4;37(1):1-18
pubmed: 29212815
Neurobiol Aging. 2014 Mar;35(3):725.e1-6
pubmed: 24095219
Cells. 2020 Nov 17;9(11):
pubmed: 33212954
Blood Cells Mol Dis. 2011 Jan 15;46(1):95-102
pubmed: 21067946
Neurology. 2007 Apr 3;68(14):1141-3
pubmed: 17215492
Aging Dis. 2016 May 27;7(3):230-6
pubmed: 27330837
Biomed Res Int. 2015;2015:678701
pubmed: 25821816
EMBO Rep. 2003 Jul;4(7):704-9
pubmed: 12792654
J Biotechnol. 2016 Mar 10;221:1-12
pubmed: 26795355
Sci Rep. 2016 Aug 19;6:31380
pubmed: 27539639
Acta Neuropathol Commun. 2017 Mar 14;5(1):22
pubmed: 28292328
Stem Cell Reports. 2019 Feb 12;12(2):213-229
pubmed: 30639209
J Biol Chem. 2006 Feb 17;281(7):4242-53
pubmed: 16293621
Nat Rev Neurol. 2020 Feb;16(2):97-107
pubmed: 31980808
J Biol Chem. 1994 Jan 21;269(3):2283-91
pubmed: 8294487
Nat Commun. 2019 Dec 5;10(1):5570
pubmed: 31804465
Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1499-504
pubmed: 18230735
Parkinsonism Relat Disord. 2012 Nov;18(9):1039-41
pubmed: 22703868
Biochemistry. 2013 Mar 12;52(10):1725-36
pubmed: 23379419
N Engl J Med. 2004 Nov 4;351(19):1972-7
pubmed: 15525722
Nat Med. 2020 Jun;26(6):869-877
pubmed: 32461697
Brain. 2022 Apr 29;145(3):1038-1051
pubmed: 35362022
Hum Mol Genet. 2019 Jun 1;28(11):1768-1781
pubmed: 30615125
J Neurosci. 2017 Oct 4;37(40):9617-9631
pubmed: 28847804
Hum Mol Genet. 2016 Aug 15;25(16):3432-3445
pubmed: 27378698
Trends Mol Med. 2011 Sep;17(9):485-93
pubmed: 21723784
Neurobiol Aging. 2015 Dec;36(12):3306-3313
pubmed: 26422360
Mov Disord. 2022 Jan;37(1):190-195
pubmed: 34550621
Curr Neuropharmacol. 2018;16(9):1348-1357
pubmed: 29473513
Mov Disord. 2018 Oct;33(10):1656-1660
pubmed: 30288804
Hum Genet. 2007 Feb;120(6):857-63
pubmed: 17019612
PLoS One. 2020 Aug 24;15(8):e0238075
pubmed: 32833982
Parkinsons Dis. 2018 Sep 27;2018:3136415
pubmed: 30363648
Blood Cells Mol Dis. 2004 Jan-Feb;32(1):218-25
pubmed: 14757438
Mov Disord. 2020 Nov;35(11):2106-2111
pubmed: 32658388
Toxicology. 2018 Feb 15;395:15-22
pubmed: 29307545
JAMA Netw Open. 2021 Apr 1;4(4):e215845
pubmed: 33881531
Mov Disord. 2020 Oct;35(10):1755-1764
pubmed: 32662532
Sci Rep. 2017 Jul 14;7(1):5377
pubmed: 28710481
Autophagy. 2019 Jan;15(1):113-130
pubmed: 30160596
FASEB J. 2019 Apr;33(4):4814-4823
pubmed: 30592623
Front Neurol. 2021 Jun 14;12:681369
pubmed: 34194386
Proc Natl Acad Sci U S A. 2011 Jul 19;108(29):12101-6
pubmed: 21730160
Front Neurosci. 2020 May 25;14:498
pubmed: 32523507
Proc Natl Acad Sci U S A. 2011 Dec 27;108(52):21200-5
pubmed: 22160715
JAMA Neurol. 2020 Apr 1;77(4):427-434
pubmed: 31930374
Neurology. 2020 Aug 11;95(6):e685-e696
pubmed: 32540937
Mol Genet Metab. 2011 Sep-Oct;104(1-2):185-8
pubmed: 21742527
Hum Mol Genet. 2006 Jan 15;15(2):223-32
pubmed: 16321986
Neurobiol Aging. 2021 Jul;103:142.e1-142.e5
pubmed: 33781610
J Med Chem. 2017 Apr 13;60(7):2983-2992
pubmed: 28245354
Mov Disord. 2013 Feb;28(2):232-236
pubmed: 23225227
Mov Disord. 2013 Dec;28(14):1966-71
pubmed: 24243757
Neurology. 2010 Sep 21;75(12):1118-9
pubmed: 20855856
Discov Med. 2012 Oct;14(77):273-81
pubmed: 23114583
Sci Rep. 2018 Jan 23;8(1):1385
pubmed: 29362387
Neurology. 2015 Mar 3;84(9):880-7
pubmed: 25653295
Expert Rev Proteomics. 2016 May;13(5):471-9
pubmed: 27098312
Mol Genet Metab. 2012 Mar;105(3):528-9
pubmed: 22227325
Mov Disord. 2017 Oct;32(10):1423-1431
pubmed: 28843015
J Neuropathol Exp Neurol. 2006 Oct;65(10):953-63
pubmed: 17021400
Ann Neurol. 2002 Mar;51(3):296-301
pubmed: 11891824
J Neurol Neurosurg Psychiatry. 2020 Jul;91(7):695-702
pubmed: 32303560
Exp Neurol. 2017 Dec;298(Pt B):180-190
pubmed: 28923368
Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3537-42
pubmed: 23297226
Biochemistry. 2007 Feb 6;46(5):1380-8
pubmed: 17260967
Autophagy. 2015;11(9):1443-57
pubmed: 26207393
Hum Mol Genet. 2007 Jan 15;16(2):223-32
pubmed: 17200152
Aging (Albany NY). 2019 Nov 21;11(22):10338-10355
pubmed: 31751314
Lancet Neurol. 2008 Jul;7(7):583-90
pubmed: 18539534
J Neurosci. 2016 Jul 13;36(28):7441-52
pubmed: 27413154
JAMA Neurol. 2014 Jun;71(6):752-7
pubmed: 24756352
Proc Natl Acad Sci U S A. 2005 Nov 15;102(46):16842-7
pubmed: 16269541
Exp Neurol. 2017 Dec;298(Pt B):236-245
pubmed: 28764903
Nature. 2020 Dec;588(7837):344-349
pubmed: 32814344
Eur J Neurol. 2010 Dec;17(12):1479-81
pubmed: 20443975
Exp Cell Res. 2007 Oct 1;313(16):3658-70
pubmed: 17706965
Lancet. 2008 Oct 4;372(9645):1263-71
pubmed: 19094956
PLoS One. 2013 Aug 02;8(8):e69147
pubmed: 23936319
Nat Genet. 2014 Sep;46(9):989-93
pubmed: 25064009
Br J Clin Pharmacol. 2021 Sep;87(9):3561-3573
pubmed: 33576113
Mov Disord. 2021 Dec;36(12):2719-2730
pubmed: 34613624
Hum Mol Genet. 2015 Nov 1;24(21):6013-28
pubmed: 26251043
Stem Cell Reports. 2016 Mar 8;6(3):342-56
pubmed: 26905200
Acta Neuropathol Commun. 2019 May 2;7(1):68
pubmed: 31046837
J Neurochem. 2021 Dec;159(5):826-839
pubmed: 34618942
Ann Neurol. 2016 Nov;80(5):662-673
pubmed: 27632223
Mov Disord. 2015 Nov;30(13):1834-9
pubmed: 26366513
Sci Transl Med. 2020 Apr 22;12(540):
pubmed: 32321864
J Clin Invest. 1999 Mar;103(6):817-23
pubmed: 10079102
Mov Disord. 2013 Oct;28(12):1683-90
pubmed: 24123150
Parkinsonism Relat Disord. 2019 May;62:179-184
pubmed: 30573413
J Parkinsons Dis. 2021;11(4):1569-1578
pubmed: 34275908
Neurology. 2006 Nov 28;67(10):1786-91
pubmed: 17050822
Blood Cells Mol Dis. 2013 Feb;50(2):134-7
pubmed: 23085429
Biomed Res Int. 2014;2014:867321
pubmed: 25243190
Protein Eng Des Sel. 2011 Oct;24(10):773-5
pubmed: 21724649
Eur J Neurol. 2020 Jan;27(1):27-42
pubmed: 31631455
Mov Disord. 2020 Jul;35(7):1249-1253
pubmed: 32353202
Sci Rep. 2017 Aug 31;7(1):10300
pubmed: 28860483
Biochem Soc Trans. 2019 Feb 28;47(1):197-207
pubmed: 30578345
Sci Transl Med. 2018 Jul 25;10(451):
pubmed: 30045977
Lancet Neurol. 2011 Oct;10(10):898-908
pubmed: 21885347
Neurogenetics. 2006 Jul;7(3):133-8
pubmed: 16633828
BMC Neurosci. 2007 Nov 28;8:102
pubmed: 18045479
Biochem Biophys Res Commun. 1990 Apr 30;168(2):771-7
pubmed: 2110456
Neurobiol Dis. 2015 Jun;78:172-95
pubmed: 25836420
J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):702-709
pubmed: 29378790
JAMA Neurol. 2018 Mar 1;75(3):312-319
pubmed: 29309488
Hum Mutat. 2008 May;29(5):567-83
pubmed: 18338393
Sci Transl Med. 2012 Dec 12;4(164):164ra161
pubmed: 23241745
Biochemistry. 2009 Jun 9;48(22):4816-27
pubmed: 19374450
Ann Neurol. 2005 Nov;58(5):784-7
pubmed: 16240353
Brain. 2014 May;137(Pt 5):1481-95
pubmed: 24574503
Expert Opin Ther Pat. 2020 Apr;30(4):275-286
pubmed: 32049564
Biochem J. 2016 Sep 1;473(17):2671-85
pubmed: 27474410
EMBO J. 2020 Sep 15;39(18):e105826
pubmed: 33433003
Angew Chem Int Ed Engl. 2020 Aug 10;59(33):13764-13776
pubmed: 31889388
Mol Genet Metab. 2004 Jul;82(3):192-207
pubmed: 15234332
Neurology. 2009 Jan 27;72(4):310-6
pubmed: 18987351
Int J Mol Sci. 2021 Feb 23;22(4):
pubmed: 33672321
J Neurochem. 2022 Apr;161(2):158-172
pubmed: 35152441
Biochem J. 2007 Jul 15;405(2):307-17
pubmed: 17447891

Auteurs

Laura J Smith (LJ)

Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London (UCL), London, United Kingdom.
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, United States.

Chiao-Yin Lee (CY)

Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London (UCL), London, United Kingdom.
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, United States.

Elisa Menozzi (E)

Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London (UCL), London, United Kingdom.
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, United States.

Anthony H V Schapira (AHV)

Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London (UCL), London, United Kingdom.
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, United States.

Classifications MeSH