A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease
about
PHF23 (plant homeodomain finger protein 23) negatively regulates cell autophagy by promoting ubiquitination and degradation of E3 ligase LRSAM1Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth diseaseA novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritanceA LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.A novel missense mutation of CMT2P alters transcription machinery.Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
P2860
Q24308681-7766F59D-3FC6-48F3-97F3-5B3613B1EE8FQ24631557-3BC1915A-A425-4EE8-BA1A-705B5C583366Q33768227-11CFFAAE-FC6A-4968-98A3-704ACFAD80D5Q36565235-CB66165B-07E8-4AAC-A54A-D4EBF1AAD29CQ38746997-DE621E8D-C4B0-4F86-B7BD-ECE66554D0ACQ40295448-61A82194-C398-4149-AD2A-19BBF495F252Q51448139-7C421A64-700E-4EFD-9B94-096160A16107
P2860
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease
description
2013 nî lūn-bûn
@nan
2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
A novel LRSAM1 mutation is ass ...... al Charcot-Marie-Tooth disease
@ast
A novel LRSAM1 mutation is ass ...... al Charcot-Marie-Tooth disease
@en
A novel LRSAM1 mutation is ass ...... al Charcot-Marie-Tooth disease
@nl
type
label
A novel LRSAM1 mutation is ass ...... al Charcot-Marie-Tooth disease
@ast
A novel LRSAM1 mutation is ass ...... al Charcot-Marie-Tooth disease
@en
A novel LRSAM1 mutation is ass ...... al Charcot-Marie-Tooth disease
@nl
prefLabel
A novel LRSAM1 mutation is ass ...... al Charcot-Marie-Tooth disease
@ast
A novel LRSAM1 mutation is ass ...... al Charcot-Marie-Tooth disease
@en
A novel LRSAM1 mutation is ass ...... al Charcot-Marie-Tooth disease
@nl
P2093
P2860
P356
P1476
A novel LRSAM1 mutation is ass ...... al Charcot-Marie-Tooth disease
@en
P2093
Anna Minaidou
Carlo Cianchetti
Eleni Zamba-Papanicolaou
Giovanni Marrosu
Kyproula Christodoulou
Lefkos Middleton
P2860
P2888
P304
P356
10.1038/EJHG.2012.146
P407
P577
2012-07-11T00:00:00Z
P5875
P6179
1028595701