Mutations of
MACF1
myopathy
neuromuscular disorder
spectraplakinopathy
whole exome sequencing
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2019
2019
Historique:
received:
05
04
2019
accepted:
02
12
2019
entrez:
4
2
2020
pubmed:
6
2
2020
medline:
6
2
2020
Statut:
epublish
Résumé
As a member of spectraplakin family of cytoskeletal crosslinking proteins, microtubule-actin crosslinking factor 1 (MACF1) controls cytoskeleton network dynamics. Knockout of
Identifiants
pubmed: 32010038
doi: 10.3389/fneur.2019.01335
pmc: PMC6974614
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1335Informations de copyright
Copyright © 2020 Kang, Liu, Jin, Li, Song, Zhang, Zhang and Yang.
Références
Semin Cell Dev Biol. 2017 Sep;69:9-17
pubmed: 28579452
Cancer Sci. 2017 Oct;108(10):1953-1958
pubmed: 28782898
Hum Mol Genet. 2014 Jun 15;23(12):3269-77
pubmed: 24476948
Transl Psychiatry. 2014 Jun 03;4:e394
pubmed: 24893065
J Cell Biol. 2012 May 14;197(4):465-75
pubmed: 22584905
BMB Rep. 2016 Jan;49(1):37-44
pubmed: 26521939
Proteomics. 2010 Apr;10(8):1557-72
pubmed: 20186752
Hepatology. 2015 Oct;62(4):1160-73
pubmed: 26154152
Proc Natl Acad Sci U S A. 2017 Aug 29;114(35):E7341-E7347
pubmed: 28808027
Sci Rep. 2014 Jun 05;4:5180
pubmed: 24899269
Mamm Genome. 2001 Nov;12(11):852-61
pubmed: 11845288
J Clin Lab Anal. 2018 Jan;32(1):null
pubmed: 28233351
Sci Rep. 2015 Dec 15;5:18209
pubmed: 26666178
Semin Cell Dev Biol. 2017 Sep;69:3-8
pubmed: 28577926
Biotechnol Genet Eng Rev. 1992;10:343-77
pubmed: 1301742
Diabetologia. 2013 Feb;56(2):298-310
pubmed: 23160641
Int J Cancer. 2014 Sep 15;135(6):1330-42
pubmed: 24504440
FEBS Lett. 1995 Jul 24;368(3):500-4
pubmed: 7635207