Mutations alter secretion of fukutin-related protein

Mutations alter secretion of fukutin-related protein

Item
http://www.wikidata.org/entity/Q24315761
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interactionMutation in osteoactivin decreases bone formation in vivo and osteoblast differentiation in vitro.Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I.Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.Dose-Dependent Effects of FKRP Gene-Replacement Therapy on Functional Rescue and Longevity in Dystrophic Mice
P2860

Mutations alter secretion of fukutin-related protein

Item
http://www.wikidata.org/entity/Q24315761
description
2010 nî lūn-bûn
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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutations alter secretion of fukutin-related protein
@ast
Mutations alter secretion of fukutin-related protein
@en
Mutations alter secretion of fukutin-related protein
@en-gb
Mutations alter secretion of fukutin-related protein
@nl
type
label
Mutations alter secretion of fukutin-related protein
@ast
Mutations alter secretion of fukutin-related protein
@en
Mutations alter secretion of fukutin-related protein
@en-gb
Mutations alter secretion of fukutin-related protein
@nl
prefLabel
Mutations alter secretion of fukutin-related protein
@ast
Mutations alter secretion of fukutin-related protein
@en
Mutations alter secretion of fukutin-related protein
@en-gb
Mutations alter secretion of fukutin-related protein
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P921
P356
P1433
P1476
Mutations alter secretion of fukutin-related protein
@en
P2093
P304
P31
P356
10.1016/J.BBADIS.2009.10.016
P407
P433
P478
P577
P5875
P698
P921