230 related articles for article (PubMed ID: 10227689)
1. 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]
2. 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]
3. 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]
4. 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]
5. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Motley AM; Brites P; Gerez L; Hogenhout E; Haasjes J; Benne R; Tabak HF; Wanders RJ; Waterham HR
Am J Hum Genet; 2002 Mar; 70(3):612-24. PubMed ID: 11781871
[TBL] [Abstract][Full Text] [Related]
6. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Barøy T; Koster J; Strømme P; Ebberink MS; Misceo D; Ferdinandusse S; Holmgren A; Hughes T; Merckoll E; Westvik J; Woldseth B; Walter J; Wood N; Tvedt B; Stadskleiv K; Wanders RJ; Waterham HR; Frengen E
Hum Mol Genet; 2015 Oct; 24(20):5845-54. PubMed ID: 26220973
[TBL] [Abstract][Full Text] [Related]
7. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
Braverman N; Chen L; Lin P; Obie C; Steel G; Douglas P; Chakraborty PK; Clarke JT; Boneh A; Moser A; Moser H; Valle D
Hum Mutat; 2002 Oct; 20(4):284-97. PubMed ID: 12325024
[TBL] [Abstract][Full Text] [Related]
8. Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.
Mohamadynejad P; Ghaedi K; Shafeghati Y; Salamian A; Tanhaie S; Karamali F; Rabiee F; Parivar K; Baharvand H; Nasr-Esfahani MH
Gene; 2013 Apr; 518(2):461-6. PubMed ID: 23357221
[TBL] [Abstract][Full Text] [Related]
9. Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.
Slawecki ML; Dodt G; Steinberg S; Moser AB; Moser HW; Gould SJ
J Cell Sci; 1995 May; 108 ( Pt 5)():1817-29. PubMed ID: 7544797
[TBL] [Abstract][Full Text] [Related]
10. CUL4A-DDB1-Rbx1 E3 ligase controls the quality of the PTS2 receptor Pex7p.
Miyauchi-Nanri Y; Mukai S; Kuroda K; Fujiki Y
Biochem J; 2014 Oct; 463(1):65-74. PubMed ID: 24989250
[TBL] [Abstract][Full Text] [Related]
11. PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.
Braverman N; Steel G; Lin P; Moser A; Moser H; Valle D
Genomics; 2000 Jan; 63(2):181-92. PubMed ID: 10673331
[TBL] [Abstract][Full Text] [Related]
12. C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.
Salamian A; Mohamadynejad P; Ghaedi K; Nejati AS; Shafeghati Y; Ahnak MB; Nematollahi M; Karbalaie K; Hadipour F; Baharvand H; Nasr-Esfahani MH
Ann Clin Lab Sci; 2013; 43(1):76-80. PubMed ID: 23462609
[TBL] [Abstract][Full Text] [Related]
13. A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.
Shimozawa N; Suzuki Y; Zhang Z; Miura K; Matsumoto A; Nagaya M; Castillo-Taucher S; Kondo N
J Hum Genet; 1999; 44(2):123-5. PubMed ID: 10083738
[TBL] [Abstract][Full Text] [Related]
14. Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.
Ofman R; Hettema EH; Hogenhout EM; Caruso U; Muijsers AO; Wanders RJ
Hum Mol Genet; 1998 May; 7(5):847-53. PubMed ID: 9536089
[TBL] [Abstract][Full Text] [Related]
15. Pex18p and Pex21p, a novel pair of related peroxins essential for peroxisomal targeting by the PTS2 pathway.
Purdue PE; Yang X; Lazarow PB
J Cell Biol; 1998 Dec; 143(7):1859-69. PubMed ID: 9864360
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. A mobile PTS2 receptor for peroxisomal protein import in Pichia pastoris.
Elgersma Y; Elgersma-Hooisma M; Wenzel T; McCaffery JM; Farquhar MG; Subramani S
J Cell Biol; 1998 Feb; 140(4):807-20. PubMed ID: 9472033
[TBL] [Abstract][Full Text] [Related]
19. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies.
Barth PG; Wanders RJ; Schutgens RB; Staalman CR
Am J Med Genet; 1996 Mar; 62(2):164-8. PubMed ID: 8882397
[TBL] [Abstract][Full Text] [Related]
20. Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells.
Mukai S; Ghaedi K; Fujiki Y
J Biol Chem; 2002 Mar; 277(11):9548-61. PubMed ID: 11756410
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]