A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses.

Animals Mice Disease Models, Animal Motor Neurons / metabolism Muscular Atrophy, Spinal / genetics SNARE Proteins / genetics Survival of Motor Neuron 1 Protein / genetics Synapses / metabolism Synaptic Transmission Transcription Factors / metabolism
Hspa8 SNARE complex assembly modifiers spinal muscular atrophy survival motor neuron protein

Journal

Neuron
ISSN: 1097-4199
Titre abrégé: Neuron
Pays: United States
ID NLM: 8809320

Informations de publication

Date de publication:
03 05 2023
Historique:
received: 05 08 2022
revised: 11 12 2022
accepted: 02 02 2023
pmc-release: 03 05 2024
medline: 8 5 2023
pubmed: 3 3 2023
entrez: 2 3 2023
Statut: ppublish

Résumé

Reduced survival motor neuron (SMN) protein triggers the motor neuron disease, spinal muscular atrophy (SMA). Restoring SMN prevents disease, but it is not known how neuromuscular function is preserved. We used model mice to map and identify an Hspa8

Identifiants

DOI: 10.1016/j.neuron.2023.02.004 PMID: 36863345 PMC: PMC10164130
pubmed: 36863345
pii: S0896-6273(23)00082-X
doi: 10.1016/j.neuron.2023.02.004
pmc: PMC10164130
mid: NIHMS1874420
pii:
doi:

Substances chimiques

SNARE Proteins 0
Survival of Motor Neuron 1 Protein 0
Transcription Factors 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1423-1439.e4

Subventions

Organisme : NIAMS NIH HHS
ID : R01 AR074985
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS104218
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS123292
Pays : United States
Organisme : NINDS NIH HHS
ID : R56 NS104218
Pays : United States

Commentaires et corrections

Type : CommentIn
Type : CommentIn

Informations de copyright

Copyright © 2023 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests J.-K.K. and U.R.M. are inventors on a provisional patent application filed by Columbia University on the use of Hspa8 as a means of treating neurodegenerative disease.

Références

Cell. 2005 Nov 4;123(3):383-96
pubmed: 16269331
Hum Mol Genet. 2017 Sep 1;26(17):3409-3420
pubmed: 28637335
Neuron. 2018 Mar 7;97(5):1001-1003
pubmed: 29518354
J Neurosci. 2009 Jan 21;29(3):842-51
pubmed: 19158308
Hum Mol Genet. 1999 Jul;8(7):1177-83
pubmed: 10369862
Int J Mol Sci. 2015 Oct 14;16(10):24295-301
pubmed: 26473852
Am J Hum Genet. 2016 Sep 1;99(3):647-665
pubmed: 27499521
Hum Mol Genet. 2018 Oct 1;27(19):3404-3416
pubmed: 29982416
Cell Rep. 2017 Oct 3;21(1):110-125
pubmed: 28978466
PLoS Genet. 2010 Oct 28;6(10):e1001172
pubmed: 21124729
J Neuropathol Exp Neurol. 2015 Jan;74(1):15-24
pubmed: 25470343
Mol Cell Biol. 2005 Jul;25(14):5973-84
pubmed: 15988013
Nat Genet. 1997 Jul;16(3):265-9
pubmed: 9207792
BMC Struct Biol. 2007 Aug 29;7:56
pubmed: 17727703
Hum Mol Genet. 2016 Mar 1;25(5):964-75
pubmed: 26758873
Hum Mol Genet. 2008 Apr 1;17(7):949-62
pubmed: 18065780
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Science. 1996 Jun 14;272(5268):1606-14
pubmed: 8658133
PLoS One. 2016 Mar 17;11(3):e0151760
pubmed: 26986070
Hum Mol Genet. 2008 Aug 15;17(16):2552-69
pubmed: 18492800
Science. 2014 May 30;344(6187):1023-8
pubmed: 24876496
J Cell Biol. 2013 Jun 10;201(6):929-44
pubmed: 23751499
Cell Mol Life Sci. 2018 Nov;75(21):3877-3894
pubmed: 29872871
Nat Cell Biol. 2001 Nov;3(11):945-9
pubmed: 11715014
Cell. 1995 Jan 13;80(1):155-65
pubmed: 7813012
Cold Spring Harb Perspect Biol. 2011 Dec 01;3(12):
pubmed: 22026965
Brain. 2018 Aug 1;141(8):2343-2361
pubmed: 29961886
Hum Mol Genet. 2017 Nov 15;26(22):4406-4415
pubmed: 28973165
Am J Hum Genet. 2017 Feb 2;100(2):297-315
pubmed: 28132687
J Proteome Res. 2010 Apr 5;9(4):1659-69
pubmed: 20201562
J Neurosci. 2010 Jan 20;30(3):849-57
pubmed: 20089893
Proc Natl Acad Sci U S A. 2013 Jun 25;110(26):E2371-80
pubmed: 23757500
Cell Rep. 2013 Dec 12;5(5):1187-95
pubmed: 24332368
Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):689-93
pubmed: 7846037
Hum Mol Genet. 2000 Feb 12;9(3):333-9
pubmed: 10655541
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Proc Natl Acad Sci U S A. 2002 Jun 25;99(13):9037-42
pubmed: 12070347
J Biol Chem. 2018 Jul 6;293(27):10796-10809
pubmed: 29764935
PLoS Biol. 2020 Jul 20;18(7):e3000606
pubmed: 32687490
Neuron. 2015 Nov 18;88(4):735-48
pubmed: 26590345
Nat Cell Biol. 2011 Jan;13(1):30-9
pubmed: 21151134
Cell. 2012 Oct 12;151(2):440-54
pubmed: 23063131
J Clin Invest. 2014 Feb;124(2):785-800
pubmed: 24463453
Biomolecules. 2022 Jan 21;12(2):
pubmed: 35204679
Cell Rep Med. 2021 Jul 21;2(7):100346
pubmed: 34337562
Pharmacol Ther. 2012 Dec;136(3):354-74
pubmed: 22960394
Genome Res. 2013 Jun;23(6):998-1007
pubmed: 23636947
Neuroreport. 2007 Mar 5;18(4):313-6
pubmed: 17435594
Cell Death Dis. 2013 Jun 20;4:e686
pubmed: 23788043
PLoS One. 2010 Nov 11;5(11):e15457
pubmed: 21085654
Science. 2008 Apr 25;320(5875):524-7
pubmed: 18440926
Mol Cell Neurosci. 2009 Sep;42(1):66-74
pubmed: 19497369
Mol Cell Biol. 2012 Jan;32(1):126-38
pubmed: 22037760
Hum Mol Genet. 2010 Oct 15;19(20):3906-18
pubmed: 20693262
J Clin Invest. 2019 Nov 1;129(11):4817-4831
pubmed: 31589162
Neuron. 2001 Sep 27;31(6):987-99
pubmed: 11580898
Curr Opin Genet Dev. 2003 Jun;13(3):290-5
pubmed: 12787792
Biochem Pharmacol. 2001 Jul 1;62(1):1-11
pubmed: 11377391
Genome Res. 2006 Jan;16(1):66-77
pubmed: 16344558
Neurobiol Dis. 1996 Apr;3(2):97-110
pubmed: 9173917
Nat Biotechnol. 2015 Jan;33(1):89-96
pubmed: 25383599
Neurobiol Dis. 2010 Apr;38(1):125-35
pubmed: 20085811
Hum Mol Genet. 2010 Dec 15;19(24):4906-17
pubmed: 20884664
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
Proc Natl Acad Sci U S A. 1999 May 25;96(11):6307-11
pubmed: 10339583
Cell Rep. 2018 Jul 10;24(2):284-293.e6
pubmed: 29996090
Science. 2003 Aug 15;301(5635):967-9
pubmed: 12920299
Hum Mol Genet. 2005 Mar 15;14(6):845-57
pubmed: 15703193
J Neurosci. 2010 Sep 8;30(36):12005-19
pubmed: 20826664
Hum Mol Genet. 1997 Aug;6(8):1205-14
pubmed: 9259265
Genome Res. 2002 Aug;12(8):1231-45
pubmed: 12176931

Auteurs

Jeong-Ki Kim (JK)

Department of Neurology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA.

Narendra N Jha (NN)

Department of Neurology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA.

Tomoyuki Awano (T)

Department of Neurology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA.

Charlotte Caine (C)

Department of Neurology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA.

Kishore Gollapalli (K)

Department of Neurology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA.

Emily Welby (E)

Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

Seung-Soo Kim (SS)

Department of Obstetrics and Gynecology, New York, NY, USA.

Andrea Fuentes-Moliz (A)

Department of Medical Physiology and Biophysics, University of Seville School of Medicine, 41009, Seville, Spain.

Xueyong Wang (X)

Department of Neuroscience, Cell Biology and Physiology, Wright State University, Dayton, OH 45435, USA.

Zhihua Feng (Z)

Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA.

Fusako Sera (F)

Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.

Taishi Takeda (T)

Department of Neurology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA.

Shunichi Homma (S)

Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.

Chien-Ping Ko (CP)

Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA.

Lucia Tabares (L)

Department of Medical Physiology and Biophysics, University of Seville School of Medicine, 41009, Seville, Spain.

Allison D Ebert (AD)

Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

Mark M Rich (MM)

Department of Neuroscience, Cell Biology and Physiology, Wright State University, Dayton, OH 45435, USA.

Umrao R Monani (UR)

Department of Neurology, New York, NY, USA; Department of Pathology & Cell Biology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA; Colleen Giblin Research Laboratory, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: um2105@columbia.edu.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › A spinal muscular atrophy modifier implicates...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › A spinal muscular atrophy modifier implicates...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › A spinal muscular atrophy modifier implicates...
questionsmedicales.fr › Cellules › Neurones › Neurones efférents › Motoneurones › A spinal muscular atrophy modifier implicates...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies du motoneurone › Amyotrophie spinale › A spinal muscular atrophy modifier implicates...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines du transport vésiculaire › Protéines SNARE › A spinal muscular atrophy modifier implicates...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéines du complexe SMN › Protéine-1 de survie du motoneurone › A spinal muscular atrophy modifier implicates...
questionsmedicales.fr › Cellules › Structures cellulaires › Membrane cellulaire › Structures de la membrane cellulaire › Jonctions intercellulaires › Synapses › A spinal muscular atrophy modifier implicates...
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Transmission synaptique › A spinal muscular atrophy modifier implicates...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › A spinal muscular atrophy modifier implicates...