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Literature DB >> 10384394

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.

J Gärtner¹, N Preuss, U Brosius, M Biermanns.

Abstract

Entities: Gene Mutation

Mesh：

Substances：

Year: 1999 PMID： 10384394 DOI： 10.1023/a:1005599903632

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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6 in total

1. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.

Authors: H Portsteffen; A Beyer; E Becker; C Epplen; A Pawlak; W H Kunau; G Dodt
Journal: Nat Genet Date: 1997-12 Impact factor: 38.330

2. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

Authors: B E Reuber; E Germain-Lee; C S Collins; J C Morrell; R Ameritunga; H W Moser; D Valle; S J Gould
Journal: Nat Genet Date: 1997-12 Impact factor: 38.330

3. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.

Authors: J Gärtner; H Moser; D Valle
Journal: Nat Genet Date: 1992-04 Impact factor: 38.330

4. A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase.

Authors: B W Swinkels; S J Gould; A G Bodnar; R A Rachubinski; S Subramani
Journal: EMBO J Date: 1991-11 Impact factor: 11.598

5. The sorting sequence of the peroxisomal integral membrane protein PMP47 is contained within a short hydrophilic loop.

Authors: J M Dyer; J A McNew; J M Goodman
Journal: J Cell Biol Date: 1996-04 Impact factor: 10.539

6. A conserved tripeptide sorts proteins to peroxisomes.

Authors: S J Gould; G A Keller; N Hosken; J Wilkinson; S Subramani
Journal: J Cell Biol Date: 1989-05 Impact factor: 10.539

6 in total

8 in total

Review 1. Disorders related to peroxisomal membranes.

Authors: J Gärtner
Journal: J Inherit Metab Dis Date: 2000-05 Impact factor: 4.982

2. 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.

Authors: Avraham Zeharia; Merel S Ebberink; Ronald J A Wanders; Hans R Waterham; Alisa Gutman; Andreea Nissenkorn; Stanley H Korman
Journal: J Hum Genet Date: 2007-05-30 Impact factor: 3.172

3. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

Authors: C Walter; J Gootjes; P A Mooijer; H Portsteffen; C Klein; H R Waterham; P G Barth; J T Epplen; W H Kunau; R J Wanders; G Dodt
Journal: Am J Hum Genet Date: 2001-06-01 Impact factor: 11.025

4. Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

Authors: Sven Thoms; Sabine Grønborg; Jana Rabenau; Andreas Ohlenbusch; Hendrik Rosewich; Jutta Gärtner
Journal: BMC Med Genet Date: 2011-08-16 Impact factor: 2.103