Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme
about
Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblastsIdentification of PEX7 as the second gene involved in Refsum diseasePip2p: a transcriptional regulator of peroxisome proliferation in the yeast Saccharomyces cerevisiae.The membrane of peroxisomes in Saccharomyces cerevisiae is impermeable to NAD(H) and acetyl-CoA under in vivo conditions.PEB1 (PAS7) in Saccharomyces cerevisiae encodes a hydrophilic, intra-peroxisomal protein that is a member of the WD repeat family and is essential for the import of thiolase into peroxisomes.Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient miceInactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in miceInvolvement of the endoplasmic reticulum in peroxisome formationPeroxisomal diseases.Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts.Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.Peroxisomal ACBD4 interacts with VAPB and promotes ER-peroxisome associations.Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata.Differential protein import deficiencies in human peroxisome assembly disorders.Immunohistochemical localization of peroxisomal enzymes during rat embryonic development.Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata.
P2860
Q24337931-A68E2D3A-FB97-492B-B72D-E936B5F8107BQ24338528-0FE2BBF7-66DD-494E-B632-894756C660C2Q27932690-B68F40A6-03FE-4D68-895E-EA117C03AB90Q27935832-79118A8C-7C99-41E5-951B-D78181FEA8BDQ27938605-02A4F0DD-AD40-4813-8E9A-E786DEB631D4Q28478297-319AF8B5-F505-47C9-9C15-EA508C2CB8CFQ28594288-48BA206C-BEFA-4ABB-94CD-761BACB1A247Q35161139-B553E574-F62E-4F13-993B-D21B1A3BB4EDQ36307328-C82B0EB8-3F52-4353-B143-B0CBE8654A6AQ37619094-9A306AA4-007B-41AF-90F8-6DBCD0ACA142Q38347768-80CBFC57-3EAC-4474-8636-75E153EBE710Q40950350-4F76E5F5-76CA-4E56-8EF2-76608CA8EB81Q41813415-02EDA4F0-D524-4521-B604-9D4CB5DCAFB8Q41920716-1F7E4EF4-A491-438D-9107-3CCC84B22A7CQ47915438-874F5177-FA98-4775-A2E2-6796F8EDFDA9Q49113700-7F75F052-68AB-471D-B3EC-B5FF9B26D1BA
P2860
Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme
description
1990 nî lūn-bûn
@nan
1990 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@ast
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@en
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@en-gb
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@nl
type
label
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@ast
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@en
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@en-gb
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@nl
prefLabel
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@ast
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@en
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@en-gb
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@nl
P2093
P2860
P356
P1476
Rhizomelic chondrodysplasia pu ...... aired processing of the enzyme
@en
P2093
C W van Roermund
H S Heymans
J C Heikoop
R B Schutgens
R J Wanders
P2860
P304
P356
10.1172/JCI114674
P407
P577
1990-07-01T00:00:00Z