Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.

Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.

Item
http://www.wikidata.org/entity/Q40122746
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interactionPost-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding ameliorationMuscular dystrophies due to defective glycosylation of dystroglycan.Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functionsOverexpression of MHC class I heavy chain protein in young skeletal muscle leads to severe myositis: implications for juvenile myositisCongenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.Probing the oligomeric state and interaction surfaces of Fukutin-I in dilauroylphosphatidylcholine bilayers.Stability and membrane orientation of the fukutin transmembrane domain: a combined multiscale molecular dynamics and circular dichroism study.Expression and purification of the transmembrane domain of Fukutin-I for biophysical studies.Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice.
P2860

Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.

Item
http://www.wikidata.org/entity/Q40122746
description
2007 nî lūn-bûn
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2007年の論文
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2007年論文
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2007年論文
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2007年論文
@zh-hk
2007年論文
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2007年論文
@zh-tw
2007年论文
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2007年论文
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2007年论文
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name
Fukutin-related protein locali ...... ocalization in muscle in vivo.
@en
type
label
Fukutin-related protein locali ...... ocalization in muscle in vivo.
@en
prefLabel
Fukutin-related protein locali ...... ocalization in muscle in vivo.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
Fukutin-related protein locali ...... ocalization in muscle in vivo.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921