An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions.
Aging
/ pathology
Axons
/ drug effects
Base Sequence
Caspase 3
/ metabolism
Cell Line
Gangliosides
/ metabolism
Gene Expression Regulation
/ drug effects
Hereditary Sensory and Autonomic Neuropathies
/ genetics
Humans
Induced Pluripotent Stem Cells
/ pathology
Membrane Microdomains
/ drug effects
Models, Biological
Myelin Sheath
/ metabolism
Nerve Growth Factors
/ metabolism
Neuroglia
/ drug effects
Neuronal Outgrowth
/ drug effects
Nodal Protein
/ metabolism
Sensory Receptor Cells
/ drug effects
Serine
/ pharmacology
Signal Transduction
/ drug effects
Sphingolipids
/ metabolism
Transcriptome
/ genetics
1-deoxySLBs
DSBs
HSN1
SPT
SPTLC1
axon
ganglioside
hereditary sensory neuropathy type 1
l-serine
myelin
sensory neuron
serine palmitoyltransferase
serine palmitoyltransferase long-chain base subunit 1
sphingolipid
Journal
Cell reports. Medicine
ISSN: 2666-3791
Titre abrégé: Cell Rep Med
Pays: United States
ID NLM: 101766894
Informations de publication
Date de publication:
20 07 2021
20 07 2021
Historique:
received:
03
07
2020
revised:
23
04
2021
accepted:
15
06
2021
entrez:
2
8
2021
pubmed:
3
8
2021
medline:
3
8
2021
Statut:
epublish
Résumé
Hereditary sensory neuropathy type 1 (HSN1) is caused by mutations in the
Identifiants
pubmed: 34337561
doi: 10.1016/j.xcrm.2021.100345
pii: S2666-3791(21)00194-4
pmc: PMC8324498
doi:
Substances chimiques
Gangliosides
0
Nerve Growth Factors
0
Nodal Protein
0
Sphingolipids
0
Serine
452VLY9402
Caspase 3
EC 3.4.22.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Pagination
100345Subventions
Organisme : Wellcome Trust
ID : 202747/Z/16/Z
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 202834/Z/16/Z
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : U54 NS065712
Pays : United States
Informations de copyright
© 2021 The Author(s).
Déclaration de conflit d'intérêts
The authors declare no competing interests.
Références
Lipids Health Dis. 2010 Aug 16;9:84
pubmed: 20712864
Cold Spring Harb Perspect Biol. 2015 Sep 09;8(3):a020495
pubmed: 26354894
Handb Clin Neurol. 2013;115:893-906
pubmed: 23931820
Int Rev Neurobiol. 2002;50:393-413
pubmed: 12198818
Genome Biol. 2010;11(2):R14
pubmed: 20132535
PLoS One. 2017 Jan 23;12(1):e0170583
pubmed: 28114358
Elife. 2017 Jan 30;6:
pubmed: 28134616
Exp Cell Res. 2015 Nov 1;338(2):203-13
pubmed: 26256888
Neuron. 2019 Mar 6;101(5):905-919.e8
pubmed: 30795902
Nat Biotechnol. 2012 Jul 01;30(7):715-20
pubmed: 22750882
Bioinformatics. 2015 Jan 15;31(2):166-9
pubmed: 25260700
J Neurosci. 2002 Aug 1;22(15):6507-14
pubmed: 12151530
J Lipid Res. 2017 Jan;58(1):42-59
pubmed: 27881717
Proc Natl Acad Sci U S A. 2020 Jul 7;117(27):15591-15598
pubmed: 32576697
J Biol Chem. 1997 Apr 18;272(16):10922-7
pubmed: 9099750
Biochim Biophys Acta. 2005 Oct 15;1737(1):44-51
pubmed: 16216550
Brain. 2006 Feb;129(Pt 2):411-25
pubmed: 16364956
J Biol Chem. 2001 Jun 8;276(23):20280-5
pubmed: 11279053
Dev Neurobiol. 2013 Mar;73(3):247-56
pubmed: 23055261
Islets. 2016 Apr 18;8(3):83-95
pubmed: 27246810
Neuron. 2005 Dec 8;48(5):737-42
pubmed: 16337912
J Neurosci. 2019 Jan 2;39(1):63-77
pubmed: 30446529
J Neurosci Res. 2001 Jul 15;65(2):150-64
pubmed: 11438984
Am J Hum Genet. 2010 Oct 8;87(4):513-22
pubmed: 20920666
Mol Cell Neurosci. 2000 Feb;15(2):170-82
pubmed: 10673325
Biophys J. 2004 May;86(5):2965-79
pubmed: 15111412
Methods Mol Biol. 2018;1804:97-141
pubmed: 29926406
Genome Biol. 2014;15(12):550
pubmed: 25516281
Methods Mol Biol. 2020;2143:111-129
pubmed: 32524476
Anal Biochem. 2004 Aug 15;331(2):275-82
pubmed: 15265733
Elife. 2017 Jan 28;6:
pubmed: 28130923
J Neurosci. 2014 Apr 9;34(15):5083-8
pubmed: 24719087
Biochim Biophys Acta. 2004 Mar 2;1688(2):168-75
pubmed: 14990347
Nat Rev Mol Cell Biol. 2008 Feb;9(2):139-50
pubmed: 18216770
Brain. 2017 Oct 1;140(10):2570-2585
pubmed: 28969375
Neuron. 2004 Apr 8;42(1):51-62
pubmed: 15066264
Pain. 2018 Jul;159(7):1413-1425
pubmed: 29419650
Philos Trans R Soc Lond B Biol Sci. 2006 Sep 29;361(1473):1575-92
pubmed: 16939976
J Physiol. 2010 Sep 1;588(Pt 17):3169-78
pubmed: 20519314
J Clin Invest. 2011 Dec;121(12):4735-45
pubmed: 22045570
Eur J Neurol. 2015 May;22(5):806-14, e55
pubmed: 25623782
J Neurosci. 2004 Mar 31;24(13):3176-85
pubmed: 15056697
J Biol Chem. 2010 Apr 9;285(15):11178-87
pubmed: 20097765
Nat Rev Mol Cell Biol. 2010 Apr;11(4):276-87
pubmed: 20308985
Hum Mol Genet. 2005 Nov 15;14(22):3507-21
pubmed: 16210380
Neurology. 2019 Jan 22;92(4):e359-e370
pubmed: 30626650
Bioinformatics. 2013 Jan 1;29(1):15-21
pubmed: 23104886
Nat Genet. 2001 Mar;27(3):261-2
pubmed: 11242106
Nat Genet. 2001 Mar;27(3):309-12
pubmed: 11242114
PLoS One. 2014 Feb 21;9(2):e87388
pubmed: 24586273
Nat Rev Mol Cell Biol. 2000 Oct;1(1):31-9
pubmed: 11413487
Glia. 2007 May;55(7):746-57
pubmed: 17352383
Neurobiol Dis. 2018 Sep;117:1-14
pubmed: 29778900
Diabetes. 2015 Mar;64(3):1035-45
pubmed: 25277395
Curr Biol. 2002 Feb 5;12(3):217-20
pubmed: 11839274
Muscle Nerve. 2015 Apr;51(4):489-95
pubmed: 25042817
Neuron. 2005 Jul 21;47(2):215-29
pubmed: 16039564
Methods Mol Biol. 2019;1994:1-14
pubmed: 31124100
Hum Mol Genet. 2016 Mar 1;25(5):853-65
pubmed: 26681808
Mol Med Rep. 2014 Feb;9(2):481-6
pubmed: 24247255
J Neurosci. 2009 Nov 18;29(46):14646-51
pubmed: 19923297
Hum Mol Genet. 2016 Mar 1;25(5):989-1000
pubmed: 26740550
J Cell Biol. 1963 Apr;17:208-12
pubmed: 13986422
J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):895-906
pubmed: 30995999
Mol Ther. 2014 Aug;22(8):1530-1543
pubmed: 24832007
Brain. 2017 Apr 1;140(4):898-913
pubmed: 28334857
Science. 1972 Aug 18;177(4049):630-3
pubmed: 5049309
J Biol Chem. 2010 Jul 23;285(30):22846-52
pubmed: 20504773
J Neurosci. 2015 Oct 7;35(40):13713-9
pubmed: 26446223