PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
about
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complexIdentification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disordersCharacterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.Reducing PEX13 expression ameliorates physiological defects of late-acting peroxin mutants.PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress.Antitumorigenic potential of STAT3 alternative splicing modulationInfantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.
P2860
Q24293136-A9029E99-091E-4ADE-9BE8-0615D388619BQ28304924-3BD52D7D-C310-4A1B-B1F5-E2022D8F4CEBQ33994146-DA4A3583-5941-48CD-9532-ABB145B8183AQ34423680-A8E3F3D8-94DB-4367-8208-33C1D737F13CQ34458791-71FB8EFB-C4A1-49A9-8EAE-1E14824028F4Q35471200-F03D5B40-266B-48F7-84CB-F2120E64D17EQ36894737-092FCFC7-7C18-4804-8346-D959AEA59E23Q41871046-59A84266-A319-4D26-A0C7-E48F9CC9273E
P2860
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
description
2005 nî lūn-bûn
@nan
2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
@ast
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
@en
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
@nl
type
label
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
@ast
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
@en
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
@nl
prefLabel
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
@ast
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
@en
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
@nl
P2093
P2860
P3181
P356
P1433
P1476
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
@en
P2093
Barbara C Paton
Denis I Crane
Megan A Maxwell
P2860
P304
P3181
P356
10.1002/HUMU.20211
P407
P577
2005-09-01T00:00:00Z