Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders - Wikidata - awgldk - TriplyDB

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders

http://www.wikidata.org/entity/Q28304924

about

Human and great ape red blood cells differ in plasmalogen levels and composition Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions Sen1, the homolog of human Senataxin, is critical for cell survival through regulation of redox homeostasis, mitochondrial function, and the TOR pathway in Saccharomyces cerevisiae Diverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cells Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesis Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders.Spectrum of PEX1 and PEX6 variants in Heimler syndrome.Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders.Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.Pexophagy: Molecular Mechanisms and Implications for Health and Diseases.Peroxisome biogenesis disorders.

P2860

Q21245699-7A3E9B49-3673-4BEA-83E6-C692D2B52F4D Q21256440-CA75C366-36ED-4759-9959-21450E24A34F Q28114322-72E1E1D2-6CF4-4634-8A79-561D2F8311FD Q28284856-29C9C5BA-6BE7-4ACA-A953-50E3777485E2 Q33994146-BEFFFACD-1092-47C3-B8D6-E661F3BB6EEC Q34380791-7D5D5A16-E124-4F1F-9039-67E9AA86E25C Q35105699-B13C83D9-67CE-4F60-9D1B-CC46070DDCB5 Q36005581-62B209BC-7DFD-4991-9C2C-99A20877C239 Q36133280-8A16A96C-0145-4653-A4D6-76EE6D611C21 Q36632900-B6C762AE-D691-4933-A048-916B5477D639 Q37558494-38C4EBEA-44A1-412C-863A-9BE110B487AB Q38116808-8E7EE028-48E4-41C3-A4AB-73CF681B8EB3 Q38563090-2CF83072-F425-46B4-88E7-2D5842BA1974 Q41113558-BE360408-AB70-4F11-BD37-CC8D30EEEA68 Q41871046-5C195136-E37E-4AF1-8A3F-0873448855C0 Q42291746-5542185F-004F-41B9-BCB3-67D857D2B5D7 Q47315076-C8A6F09F-A6EA-4B33-B737-EFD5E91FA4EE Q49269300-580EC01A-164A-4769-835E-054ADB8CB31B Q55209610-039287A2-AD2A-4B0B-8F48-1B824DB39668

P2860

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders

http://www.wikidata.org/entity/Q28304924

description

2009 nî lūn-bûn

@nan

2009 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի մարտին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年学术文章

@wuu

2009年学术文章

@zh-cn

2009年学术文章

@zh-hans

2009年学术文章

@zh-my

2009年学术文章

@zh-sg

2009年學術文章

@yue

name

Identification of novel mutati ...... eroxisome biogenesis disorders

@ast

Identification of novel mutati ...... eroxisome biogenesis disorders

@en

Identification of novel mutati ...... eroxisome biogenesis disorders

@nl

type

label

Identification of novel mutati ...... eroxisome biogenesis disorders

@ast

Identification of novel mutati ...... eroxisome biogenesis disorders

@en

Identification of novel mutati ...... eroxisome biogenesis disorders

@nl

prefLabel

Identification of novel mutati ...... eroxisome biogenesis disorders

@ast

Identification of novel mutati ...... eroxisome biogenesis disorders

@en

Identification of novel mutati ...... eroxisome biogenesis disorders

@nl

P1433

Q28304924-96D807E5-BE3F-4C3C-8725-453C62409823

P1476

Q28304924-729ED42B-3510-4506-870C-122B9CF793A6

P2093

Q28304924-2AED45AE-2C8C-4EA0-8C2D-F0527D273A15

Q28304924-2E4570AB-207B-4739-A503-0A57EA86B21F

Q28304924-31158B6B-1BC6-4817-80B6-84E47E97660D

Q28304924-33B6BF34-2467-44E5-B374-4C408A0E1B32

Q28304924-3F5E077B-F5D4-4410-A5FE-1D16E6C2A575

P2860

Q28304924-028878C8-B0C5-45DA-ADF2-54055F45C51D

Q28304924-05F1FAEA-4F3A-4F7E-AE15-35E03DE62531

Q28304924-06E28874-E479-4F43-8F21-571053131A6D

Q28304924-076B5C0E-BACC-4D96-96EC-2995406B2E57

Q28304924-09F83227-66DD-4861-A2C1-6A6462EB4549

Q28304924-0E15F344-7AB5-499F-8B36-6202EFE8ECDB

Q28304924-2646A3C0-FE26-4C1E-B935-92CE55333E81

Q28304924-2AA971F0-FA11-441E-85C6-74053228C6EC

Q28304924-309EBA42-DEBE-4E71-B36A-649B715F5480

Q28304924-35705540-5902-4A29-9F30-BED5203F1B75

P304

Q28304924-59BD643A-5ADF-45CA-AD0E-1DFAE1E0AC20

P31

Q28304924-7E4192DD-E8DE-43A7-8D0A-135564CFA9BC

P3181

Q28304924-1E77CB11-11BC-494B-8A83-5E6FDE99FBB2

P356

Q28304924-A4694ABC-868F-4CD6-A082-881FE2B04B54

P407

Q28304924-366E9950-DB17-4291-BB07-11EEBD852BF5

P433

Q28304924-D54C4E0E-66AA-454E-BBBE-9599FA21749E

P478

Q28304924-9A9AA1EC-1E58-49A5-A0C6-15BBA895F7F1

P577

Q28304924-286C0633-E92B-49E9-8A16-A027B41A414C

P5875

Q28304924-14620ACD-ABD9-4CB5-9DA4-E66A1B30CCCC

P698

Q28304924-C75EEB7E-13A9-4606-B91F-FA96156DC12A

P932

Q28304924-9E94B6B4-3EEC-48D4-BD0F-2052D781144E

P3181

P356

P1433

P1476

Identification of novel mutati ...... eroxisome biogenesis disorders

@en

P2093

Ann B Moser

http://www.w3.org/2001/XMLSchema#string

Hugo W Moser

http://www.w3.org/2001/XMLSchema#string

Joseph G Hacia

http://www.w3.org/2001/XMLSchema#string

Steven J Steinberg

http://www.w3.org/2001/XMLSchema#string

Wing Yan Yik

http://www.w3.org/2001/XMLSchema#string

P2860

PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import

Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients

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 complex

Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C

Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans

PEX12 encodes an integral membrane protein of peroxisomes

P304

E467-80

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

2584500

http://www.w3.org/2001/XMLSchema#string

P356

10.1002/HUMU.20932

http://www.w3.org/2001/XMLSchema#string

P407

P433

3

http://www.w3.org/2001/XMLSchema#string

P478

30

http://www.w3.org/2001/XMLSchema#string

P577

2009-03-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

23686754

http://www.w3.org/2001/XMLSchema#string

P698

19105186

http://www.w3.org/2001/XMLSchema#string

P932

2649967

http://www.w3.org/2001/XMLSchema#string