Degradation of Mutant Proteins, Underlying "Loss of Function" Phenotypes, Plays a Major Role in Genetic Disease

Aggresomes, inclusion bodies and protein aggregation

2000 • 1,881 citations

Setting the Standards: Quality Control in the Secretory Pathway

1999 • 1,198 citations

Posttranslational Quality Control: Folding, Refolding, and Degrading Proteins

1999 • 1,064 citations

A surprising simplicity to protein folding

2000 • 779 citations

Principles for the Buffering of Genetic Variation

2001 • 708 citations

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1999 • 603 citations

Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants

2000 • 541 citations

Understanding protein folding via free-energy surfaces from theory and experiment

2000 • 494 citations

Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins.

1994 • 482 citations

Monogenic traits are not simple: lessons from phenylketonuria

1999 • 428 citations

Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems Dynamics

2000 • 418 citations

A Giant Protease with Potential to Substitute for Some Functions of the Proteasome

1999 • 377 citations

Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.

1998 • 325 citations

A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency.

1994 • 293 citations

Human Gene Mutation Database?A biomedical information and research resource

2000 • 278 citations

Detecting and Measuring Cotranslational Protein Degradation in Vivo

2000 • 247 citations

ATP-dependent proteases that also chaperone protein biogenesis

1997 • 240 citations

Aggresomes and Russell bodies

2000 • 229 citations

Size-dependent Disaggregation of Stable Protein Aggregates by the DnaK Chaperone Machinery

2000 • 226 citations

Protein folding in the cytosol: chaperonin-dependent and -independent mechanisms

1998 • 226 citations

Correction of Defective Protein Kinesis of Human P-glycoprotein Mutants by Substrates and Modulators

1997 • 224 citations

Protein misfolding and degradation in genetic diseases

1999 • 223 citations

Roles of molecular chaperones in cytoplasmic protein folding

2000 • 199 citations

Correcting temperature-sensitive protein folding defects.

1997 • 180 citations

Thermodynamic stability and point mutations of bacteriophage T4 lysozyme

1984 • 149 citations

Folding of Secretory and Membrane Proteins

1998 • 143 citations

Protein folding: Versatility of the cytosolic chaperonin TRiC/CCT

2000 • 130 citations

Misfolding of Mutant Aquaporin-2 Water Channels in Nephrogenic Diabetes Insipidus

1999 • 128 citations

A Common Temperature-sensitive Allelic Form of Human Tyrosinase Is Retained in the Endoplasmic Reticulum at the Nonpermissive Temperature

2000 • 120 citations

Integration of the ubiquitin-proteasome pathway with a cytosolic oligopeptidase activity

2000 • 118 citations

Selective Degradation of Abnormal Proteins in Mammalian Tissue Culture Cells

1974 • 109 citations

OSMOTIC-REMEDIAL MUTANTS. A NEW CLASSIFICATION FOR NUTRITIONAL MUTANTS IN YEAST

1964 • 100 citations

Proteasome Inhibitor‐Induced Apoptosis of Glioma Cells Involves the Processing of Multiple Caspases and Cytochrome c Release

2000 • 93 citations

Expression Analysis of Phenylketonuria Mutations

2000 • 88 citations

A Set of pBR322-Compatible Plasmids Allowing the Testing of Chaperone-Assisted Folding of Proteins Overexpressed inEscherichia coli

1997 • 66 citations

Role of ubiquitin in proteasomal degradation of mutant α₁-antitrypsin Z in the endoplasmic reticulum

2000 • 64 citations

The meteoric rise of regulated intracellular proteolysis

2000 • 63 citations

Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation

1998 • 62 citations

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

2000 • 58 citations

Protein processing:

1997 • 57 citations

Furin-mediated processing in the early secretory pathway: Sequential cleavage and degradation of misfolded insulin receptors

2000 • 55 citations

Protein aggregation in Huntington’s and Parkinson’s disease: implications for therapy

2000 • 53 citations

Role of molecular chaperones in subnuclear trafficking of glucocorticoid receptors

2000 • 51 citations

Grp78 Is Involved in Retention of Mutant Low Density Lipoprotein Receptor Protein in the Endoplasmic Reticulum

2000 • 50 citations

Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases

1996 • 50 citations

Rapid Degradation of Short-chain Acyl-CoA Dehydrogenase Variants with Temperature-sensitive Folding Defects Occurs after Import into Mitochondria

1998 • 49 citations

Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype

2000 • 49 citations

Degradation of Human Thyroperoxidase in the Endoplasmic Reticulum Involves Two Different Pathways Depending on the Folding State of the Protein

2000 • 48 citations

Mutations in Sialidosis Impair Sialidase Binding to the Lysosomal Multienzyme Complex

2001 • 48 citations

Mutational Effects on Inclusion Body Formation

1997 • 43 citations

Human genetic diseases of proteolysis

1999 • 39 citations

The Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts

1998 • 36 citations

Antagonists to the rescue

2000 • 27 citations

Impaired Folding and Subunit Assembly as Disease Mechanism: The Example of Medium-Chain acyl-CoA Dehydrogenase Deficiency

1997 • 14 citations

Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sites

1999 • 11 citations

Is There Treatment for “Genetic” Disease?

1999 • 10 citations

Assembly of heterodimeric luciferase after de novo synthesis of subunits in rabbit reticulocyte lysate involves Hsc70 and Hsp40 at a post‐translational stage

2000 • 5 citations

Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases

1996 • 4 citations

Marfan Syndrome and Related Disorders

2014 • 3 citations

Human genetic diseases of proteolysis

1999 • 2 citations

The Duarte allele impairs biostability of galactose‐1‐phosphate uridyltransferase in human lymphoblasts

1998 • 2 citations

Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype

2001 • 2 citations

Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sites

1999 • 1 citations