TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Journal
Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462
Informations de publication
Date de publication:
03 2022
03 2022
Historique:
received:
02
04
2021
accepted:
18
01
2022
pubmed:
25
2
2022
medline:
23
4
2022
entrez:
24
2
2022
Statut:
ppublish
Résumé
Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic lateral sclerosis and frontotemporal dementia
Identifiants
pubmed: 35197628
doi: 10.1038/s41586-022-04436-3
pii: 10.1038/s41586-022-04436-3
pmc: PMC8891020
doi:
Substances chimiques
Codon, Nonsense
0
DNA-Binding Proteins
0
Nerve Tissue Proteins
0
TARDBP protein, human
0
UNC13B protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
131-137Subventions
Organisme : Medical Research Council
ID : MR/M008606/1
Pays : United Kingdom
Organisme : NIGMS NIH HHS
ID : T32 GM136577
Pays : United States
Organisme : Medical Research Council
ID : MR/R005184/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_MR/S022708/1
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : TURNER/OCT15/972-797
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S006508/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_EX_MR/N501931/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 107116/Z/15/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/W005190/1
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : FRATTA/JAN15/946-795
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : R56 AG055824
Pays : United States
Organisme : Wellcome Trust
ID : FC001002
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : U01 AG068880
Pays : United States
Organisme : Motor Neurone Disease Association
ID : HALLEGGER/OCT15/959-799
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : MALASPINA/APR13/817-791
Pays : United Kingdom
Investigateurs
Hemali Phatnani
(H)
Justin Kwan
(J)
Dhruv Sareen
(D)
James R Broach
(JR)
Zachary Simmons
(Z)
Ximena Arcila-Londono
(X)
Edward B Lee
(EB)
Vivianna M Van Deerlin
(VM)
Neil A Shneider
(NA)
Ernest Fraenkel
(E)
Lyle W Ostrow
(LW)
Frank Baas
(F)
Noah Zaitlen
(N)
James D Berry
(JD)
Andrea Malaspina
(A)
Pietro Fratta
(P)
Gregory A Cox
(GA)
Leslie M Thompson
(LM)
Steve Finkbeiner
(S)
Efthimios Dardiotis
(E)
Timothy M Miller
(TM)
Siddharthan Chandran
(S)
Suvankar Pal
(S)
Eran Hornstein
(E)
Daniel J MacGowan
(DJ)
Terry Heiman-Patterson
(T)
Molly G Hammell
(MG)
Nikolaos A Patsopoulos
(NA)
Oleg Butovsky
(O)
Joshua Dubnau
(J)
Avindra Nath
(A)
Robert Bowser
(R)
Matthew Harms
(M)
Eleonora Aronica
(E)
Mary Poss
(M)
Jennifer Phillips-Cremins
(J)
John Crary
(J)
Nazem Atassi
(N)
Dale J Lange
(DJ)
Darius J Adams
(DJ)
Leonidas Stefanis
(L)
Marc Gotkine
(M)
Robert H Baloh
(RH)
Suma Babu
(S)
Towfique Raj
(T)
Sabrina Paganoni
(S)
Ophir Shalem
(O)
Colin Smith
(C)
Bin Zhang
(B)
Brent Harris
(B)
Iris Broce
(I)
Vivian Drory
(V)
John Ravits
(J)
Corey McMillan
(C)
Vilas Menon
(V)
Lani Wu
(L)
Steven Altschuler
(S)
Yossef Lerner
(Y)
Rita Sattler
(R)
Kendall Van Keuren-Jensen
(K)
Orit Rozenblatt-Rosen
(O)
Kerstin Lindblad-Toh
(K)
Katharine Nicholson
(K)
Peter Gregersen
(P)
Jeong-Ho Lee
(JH)
Sulev Kokos
(S)
Stephen Muljo
(S)
Commentaires et corrections
Type : CommentIn
Type : CommentIn
Type : CommentIn
Informations de copyright
© 2022. The Author(s).
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