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

[1]  P. Watkins,et al.  Identification of PAHX, a Refsum disease gene , 1997, Nature Genetics.

[2]  M. Skoneczny,et al.  Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor , 1997, Nature Genetics.

[3]  H. Tabak,et al.  Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor , 1997, Nature Genetics.

[4]  H. Moser,et al.  Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders , 1997, Nature Genetics.

[5]  H. Moser,et al.  Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata , 1997, Nature Genetics.

[6]  S. Gould,et al.  Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor , 1996, The Journal of cell biology.

[7]  H. Moser,et al.  A unified nomenclature for peroxisome biogenesis factors , 1996, The Journal of cell biology.

[8]  H. Moser,et al.  The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. , 1996, The EMBO journal.

[9]  J. Dyer,et al.  The sorting sequence of the peroxisomal integral membrane protein PMP47 is contained within a short hydrophilic loop , 1996, The Journal of cell biology.

[10]  D. Valle,et al.  Disorders of peroxisome biogenesis. , 1995, Human molecular genetics.

[11]  H. Moser,et al.  Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders. , 1995, Journal of cell science.

[12]  H. Moser,et al.  Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders , 1995, Nature Genetics.

[13]  J. Heyman,et al.  Role of the PAS1 gene of Pichia pastoris in peroxisome biogenesis , 1994, The Journal of cell biology.

[14]  M. Marzioch,et al.  PAS7 encodes a novel yeast member of the WD‐40 protein family essential for import of 3‐oxoacyl‐CoA thiolase, a PTS2‐containing protein, into peroxisomes. , 1994, The EMBO journal.

[15]  S. Subramani,et al.  Cloning and characterization of PAS5: a gene required for peroxisome biogenesis in the methylotrophic yeast Pichia pastoris , 1993, The Journal of cell biology.

[16]  S. Subramani,et al.  Protein import into peroxisomes and biogenesis of the organelle. , 1993, Annual review of cell biology.

[17]  D. Valle,et al.  Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. , 1992, Genomics.

[18]  H. Moser,et al.  Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome , 1992, Nature Genetics.

[19]  R. Wanders,et al.  Biochemistry of peroxisomes. , 1992, Annual review of biochemistry.

[20]  S. Subramani,et al.  A novel, cleavable peroxisomal targeting signal at the amino‐terminus of the rat 3‐ketoacyl‐CoA thiolase. , 1991, The EMBO journal.

[21]  A. Beyer,et al.  PAS1, a yeast gene required for peroxisome biogenesis, encodes a member of a novel family of putative ATPases , 1991, Cell.

[22]  E. Myers,et al.  Basic local alignment search tool. , 1990, Journal of molecular biology.

[23]  S. Subramani,et al.  Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins , 1990, The Journal of cell biology.

[24]  S Subramani,et al.  A conserved tripeptide sorts proteins to peroxisomes , 1989, The Journal of cell biology.

[25]  Y. Fujiki,et al.  Biogenesis of peroxisomes. , 1985, Annual review of cell biology.