Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans
about
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assemblyPEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein importPhenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interactionIdentification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disordersPEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12pPeroxisome targeting signal type 1 (PTS1) receptor is involved in import of both PTS1 and PTS2: studies with PEX5-defective CHO cell mutants.Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disordersPEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parentsHuman PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group IDisruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum diseaseIdentification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disordersShuttling mechanism of peroxisome targeting signal type 1 receptor Pex5: ATP-independent import and ATP-dependent export.Distinct modes of ubiquitination of peroxisome-targeting signal type 1 (PTS1) receptor Pex5p regulate PTS1 protein import.Peroxisomes are formed from complex membrane structures in PEX6-deficient CHO cells upon genetic complementation.
P2860
Q22008461-7F492F97-9759-4FCB-8498-067BCFCC8856Q22008838-393608E5-F46F-4BED-BD02-148C12CC8C74Q22010795-64BE79AB-8B1C-477A-A75E-FD2985199CF9Q24291411-BD4E8C71-9F69-4F18-8C0E-A20F40765EE6Q24318540-8CB81E2C-8686-4A6B-B88F-62AC56C6258BQ24522572-4C0CF593-3B5F-46A8-AA2C-19DE84284A11Q24533793-DA837C4F-2338-49EC-AE57-9BE396682E66Q24539414-B18FD6B0-0A2A-4B2D-BF28-C3DC9726C5EBQ24540126-A71E2829-3179-44B2-9C66-D64A25513945Q24613849-BCA27243-D3F3-49C5-81D4-D3FFC3D767C6Q24645143-D3BBB2A0-564B-4659-800C-8D626BCFBD50Q24681184-C79EE42B-891C-4202-A8F4-E17889F8BB10Q28304924-7F4A7C14-19D1-452E-871F-E5259AF12B40Q34230823-0F984F2C-0A40-469B-9D62-76A70EE89CB6Q39012365-76917C99-DE8E-4008-8150-4D3E0A30923BQ39357559-5E7F4D13-4EEC-47F5-9915-D0D3F6AF7D42
P2860
Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans
description
1996 nî lūn-bûn
@nan
1996 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Human peroxisome assembly fact ...... biogenesis disorder in humans
@ast
Human peroxisome assembly fact ...... biogenesis disorder in humans
@en
Human peroxisome assembly fact ...... biogenesis disorder in humans
@en-gb
Human peroxisome assembly fact ...... biogenesis disorder in humans
@nl
type
label
Human peroxisome assembly fact ...... biogenesis disorder in humans
@ast
Human peroxisome assembly fact ...... biogenesis disorder in humans
@en
Human peroxisome assembly fact ...... biogenesis disorder in humans
@en-gb
Human peroxisome assembly fact ...... biogenesis disorder in humans
@nl
prefLabel
Human peroxisome assembly fact ...... biogenesis disorder in humans
@ast
Human peroxisome assembly fact ...... biogenesis disorder in humans
@en
Human peroxisome assembly fact ...... biogenesis disorder in humans
@en-gb
Human peroxisome assembly fact ...... biogenesis disorder in humans
@nl
P2093
P2860
P1476
Human peroxisome assembly fact ...... biogenesis disorder in humans
@en
P2093
K Imaizumi
N Hashiguchi
N Shimozawa
T Tsukamoto
P2860
P304
P407
P577
1996-12-01T00:00:00Z