260 related articles for article (PubMed ID: 20060764)
1. A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.
Braverman N; Zhang R; Chen L; Nimmo G; Scheper S; Tran T; Chaudhury R; Moser A; Steinberg S
Mol Genet Metab; 2010 Apr; 99(4):408-16. PubMed ID: 20060764
[TBL] [Abstract][Full Text] [Related]
2. Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.
Brites P; Motley AM; Gressens P; Mooyer PA; Ploegaert I; Everts V; Evrard P; Carmeliet P; Dewerchin M; Schoonjans L; Duran M; Waterham HR; Wanders RJ; Baes M
Hum Mol Genet; 2003 Sep; 12(18):2255-67. PubMed ID: 12915479
[TBL] [Abstract][Full Text] [Related]
3. In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor.
Wood PL; Khan MA; Smith T; Ehrmantraut G; Jin W; Cui W; Braverman NE; Goodenowe DB
Lipids Health Dis; 2011 Oct; 10():182. PubMed ID: 22008564
[TBL] [Abstract][Full Text] [Related]
4. Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata.
Fallatah W; Smith T; Cui W; Jayasinghe D; Di Pietro E; Ritchie SA; Braverman N
Dis Model Mech; 2020 Jan; 13(1):. PubMed ID: 31862688
[TBL] [Abstract][Full Text] [Related]
5. A
Fallatah W; Cui W; Di Pietro E; Carter GT; Pounder B; Dorninger F; Pifl C; Moser AB; Berger J; Braverman NE
Front Cell Dev Biol; 2022; 10():886316. PubMed ID: 35898397
[TBL] [Abstract][Full Text] [Related]
6. Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation.
Muratoğlu Şahin N; Bilici ME; Kurnaz E; Pala Akdoğan M; Ceylaner S; Aycan Z
J Pediatr Endocrinol Metab; 2017 Aug; 30(8):889-892. PubMed ID: 28742517
[TBL] [Abstract][Full Text] [Related]
7. Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice.
Brites P; Ferreira AS; da Silva TF; Sousa VF; Malheiro AR; Duran M; Waterham HR; Baes M; Wanders RJ
PLoS One; 2011; 6(12):e28539. PubMed ID: 22163031
[TBL] [Abstract][Full Text] [Related]
8. The importance of ether-phospholipids: a view from the perspective of mouse models.
da Silva TF; Sousa VF; Malheiro AR; Brites P
Biochim Biophys Acta; 2012 Sep; 1822(9):1501-8. PubMed ID: 22659211
[TBL] [Abstract][Full Text] [Related]
9. Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.
Purdue PE; Skoneczny M; Yang X; Zhang JW; Lazarow PB
Neurochem Res; 1999 Apr; 24(4):581-6. PubMed ID: 10227689
[TBL] [Abstract][Full Text] [Related]
10. Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment.
Malheiro AR; Correia B; Ferreira da Silva T; Bessa-Neto D; Van Veldhoven PP; Brites P
Brain Pathol; 2019 Sep; 29(5):622-639. PubMed ID: 30667116
[TBL] [Abstract][Full Text] [Related]
11. Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders.
De Biase I; Yuzyuk T; Cui W; Zuromski LM; Moser AB; Braverman NE
Clin Chim Acta; 2023 Mar; 542():117295. PubMed ID: 36914043
[TBL] [Abstract][Full Text] [Related]
12. Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.
Dorninger F; Brodde A; Braverman NE; Moser AB; Just WW; Forss-Petter S; Brügger B; Berger J
Biochim Biophys Acta; 2015 Feb; 1851(2):117-28. PubMed ID: 25463479
[TBL] [Abstract][Full Text] [Related]
13. Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.
Noguchi M; Honsho M; Abe Y; Toyama R; Niwa H; Sato Y; Ghaedi K; Rahmanifar A; Shafeghati Y; Fujiki Y
J Hum Genet; 2014 Jul; 59(7):387-92. PubMed ID: 24849933
[TBL] [Abstract][Full Text] [Related]
14. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
Purdue PE; Zhang JW; Skoneczny M; Lazarow PB
Nat Genet; 1997 Apr; 15(4):381-4. PubMed ID: 9090383
[TBL] [Abstract][Full Text] [Related]
15. Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
Çim A; Coşkun S; Görükmez O; Yüksel H; Uluca Ü; Pietro ED; Plourde F; Braverman NE
J Clin Res Pediatr Endocrinol; 2015 Mar; 7(1):69-72. PubMed ID: 25800479
[TBL] [Abstract][Full Text] [Related]
16. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
Motley AM; Hettema EH; Hogenhout EM; Brites P; ten Asbroek AL; Wijburg FA; Baas F; Heijmans HS; Tabak HF; Wanders RJ; Distel B
Nat Genet; 1997 Apr; 15(4):377-80. PubMed ID: 9090382
[TBL] [Abstract][Full Text] [Related]
17. Identification of PEX7 as the second gene involved in Refsum disease.
van den Brink DM; Brites P; Haasjes J; Wierzbicki AS; Mitchell J; Lambert-Hamill M; de Belleroche J; Jansen GA; Waterham HR; Wanders RJ
Am J Hum Genet; 2003 Feb; 72(2):471-7. PubMed ID: 12522768
[TBL] [Abstract][Full Text] [Related]
18. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.
Bams-Mengerink AM; Majoie CB; Duran M; Wanders RJ; Van Hove J; Scheurer CD; Barth PG; Poll-The BT
Neurology; 2006 Mar; 66(6):798-803; discussion 789. PubMed ID: 16567694
[TBL] [Abstract][Full Text] [Related]
19. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
Braverman N; Steel G; Obie C; Moser A; Moser H; Gould SJ; Valle D
Nat Genet; 1997 Apr; 15(4):369-76. PubMed ID: 9090381
[TBL] [Abstract][Full Text] [Related]
20. Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination.
da Silva TF; Eira J; Lopes AT; Malheiro AR; Sousa V; Luoma A; Avila RL; Wanders RJ; Just WW; Kirschner DA; Sousa MM; Brites P
J Clin Invest; 2014 Jun; 124(6):2560-70. PubMed ID: 24762439
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
