Phenotype-Genotype Relationships in Complementation Group 3 of the Peroxisome-Biogenesis Disorders

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

The scanning model for translation: an update.

1989 • 3,525 citations

Isolation of monoclonal antibodies specific for human c-myc proto-oncogene product.

1985 • 2,456 citations

Differential plasmid rescue from transgenic mouse DNAs into Escherichia coli methylation-restriction mutants.

1990 • 1,149 citations

A conserved tripeptide sorts proteins to peroxisomes.

1989 • 1,113 citations

Isolation of Monoclonal Antibodies Specific for Human c-myc Proto-Oncogene Product

1985 • 788 citations

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

1991 • 629 citations

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

1995 • 515 citations

Regulation of Translation in Eukaryotic Systems

1992 • 467 citations

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

1993 • 440 citations

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

1997 • 432 citations

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

1995 • 430 citations

Protein Import into Peroxisomes and Biogenesis of the Organelle

1993 • 411 citations

A Human Gene Responsible for Zellweger Syndrome That Affects Peroxisome Assembly

1992 • 357 citations

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

1997 • 301 citations

Disorders of peroxisome biogenesis

1995 • 289 citations

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

1997 • 264 citations

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

1997 • 264 citations

A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).

1988 • 253 citations

RNA-protein interactions in regulation of picornavirus RNA translation

1996 • 247 citations

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1995 • 246 citations

Identification of PAHX, a Refsum disease gene

1997 • 245 citations

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

1997 • 230 citations

Termination-reinitiation occurs in the translation of mammalian cell mRNAs.

1986 • 213 citations

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

1996 • 184 citations

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

1996 • 170 citations

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.

1988 • 164 citations

A single base deletion in the Tfm androgen receptor gene creates a short-lived messenger RNA that directs internal translation initiation.

1991 • 151 citations

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

1997 • 149 citations

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

1997 • 142 citations

Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins.

1990 • 133 citations

Effect of upstream reading frames on translation efficiency in simian virus 40 recombinants.

1986 • 125 citations

Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders

1995 • 120 citations

Identification of PEX10, the Gene Defective in Complementation Group 7 of the Peroxisome-Biogenesis Disorders

1998 • 120 citations

Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene

1992 • 118 citations

Termination-Reinitiation Occurs in the Translation of Mammalian Cell mRNAs

1986 • 109 citations

d-3-Hydroxyacyl-CoA Dehydratase/d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder

1997 • 107 citations

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

1996 • 104 citations

PEX12, the Pathogenic Gene of Group III Zellweger Syndrome: cDNA Cloning by Functional Complementation on a CHO Cell Mutant, Patient Analysis, and Characterization of Pex12p

1998 • 97 citations

Genetic and Phenotypic Heterogeneity in Disorders of Peroxisome Biogenesis—A Complementation Study Involving Cell Lines from 19 Patients

1989 • 97 citations

Yeast peroxisomes: Function and biogenesis of a versatile cell organelle

1997 • 69 citations

Effect of Upstream Reading Frames on Translation Efficiency in Simian Virus 40 Recombinants

1986 • 66 citations

Internal initiation of translation

1993 • 63 citations

Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2

1997 • 55 citations