Citation Impact
Citing Papers
The human disease network
2007 Standout
X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C
2011 StandoutNobel
Plant Cuticular Lipid Export Requires an ABC Transporter
2004 StandoutScience
The human ATP-binding cassette (ABC) transporter superfamily
2001
The Arabidopsis thaliana ABC Protein Superfamily, a Complete Inventory
2001
Adrenoleukodystrophy
2005
A PGC1-α-dependent myokine that drives brown-fat-like development of white fat and thermogenesis
2012 StandoutNature
An optogenetic toolbox designed for primates
2011
Role for ELOVL3 and Fatty Acid Chain Length in Development of Hair and Skin Function
2004 StandoutNobel
NtWBC1, an ABC transporter gene specifically expressed in tobacco reproductive organs
2004
The Failing Heart — An Engine Out of Fuel
2007 Standout
Identification and characterization of a spinal muscular atrophy-determining gene
1995 Standout
Dying for a cause: invertebrate genetics takes on human neurodegeneration
2003
X-linked adrenoleukodystrophy: Very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment
2006
An overview of membrane transport proteins in Saccharomyces cerevisiae
1995
The C. elegans Cell Corpse Engulfment Gene ced-7 Encodes a Protein Similar to ABC Transporters
1998 StandoutNobel
Nonalcoholic Fatty Liver Disease
2002 Standout
A genome-wide comparison of recent chimpanzee and human segmental duplications
2005 StandoutNatureNobel
The Degradation of Apolipoprotein B100 Is Mediated by the Ubiquitin-proteasome Pathway and Involves Heat Shock Protein 70
1997 StandoutNobel
Childhood ataxia with diffuse central nervous system hypomyelination
1994
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
1991 Standout
Hepatocyte-specific Pten deficiency results in steatohepatitis and hepatocellular carcinomas
2004 StandoutNobel
Steatohepatitis, Spontaneous Peroxisome Proliferation and Liver Tumors in Mice Lacking Peroxisomal Fatty Acyl-CoA Oxidase
1998
Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice
1997
Balancing Acts
2004 Standout
Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline
2016 Standout
Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)
1999
Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy
1997
Alzheimer Disease: An Update on Pathobiology and Treatment Strategies
2019 Standout
Animal Models of Demyelination
1996
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
1999
Adrenoleukodystrophy Protein-Deficient Mice Represent Abnormality of Very Long Chain Fatty Acid Metabolism
1997
Neocortical excitation/inhibition balance in information processing and social dysfunction
2011 StandoutNature
Peroxisomal disorders
1996
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
1996
Proton conductance caused by long-chain fatty acids in phospholipid bilayer membranes
1988
A locus control region adjacent to the human red and green visual pigment genes
1992
Chimeric brains generated by intraventricular transplantation of fetal human brain cells into embryonic rats
1998
The Human ATP-Binding Cassette (ABC) Transporter Superfamily
2001
Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database
1996
Genetics of primary progressive multiple sclerosis
2014
Recognition of lipid antigens by T cells
2005
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
1998
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease
1999
X-linked adrenoleukodystrophy enigma: How does the ALD peroxisomal transporter mutation affect CNS glia?
2000
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.
1994
Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution
1996
Diminished support for linkage between manic depressive illness and X–chromosome markers in three Israeli pedigrees
1993
Bone Marrow Transplantation
1994
Fibrate induction of the adrenoleukodystrophy‐related gene (ABCD2)
2001
Mechanisms for Insulin Resistance: Common Threads and Missing Links
2012 Standout
Mouse PeP: A novel peroxisomal protein linked to myoblast differentiation and development
2002
The Human Aquaporin-5 Gene
1996 StandoutNobel
Phosphoinositides in cell regulation and membrane dynamics
2006 StandoutNature
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Protein Tyrosine Phosphatases in the Human Genome
2004 Standout
CRISPR-Based Technologies for the Manipulation of Eukaryotic Genomes
2016 Standout
Human White/Murine ABC8 mRNA Levels Are Highly Induced in Lipid-loaded Macrophages
2000
Allelic inactivation regulates olfactory receptor gene expression
1994 StandoutNobel
Peroxisome biogenesis disorders
2006
Atherosclerosis
2001 Standout
A Two-domain Structure of One Subunit Explains Unique Features of Eukaryotic Hydratase 2
2004
The Crystal Structure of Yeast Fatty Acid Synthase, a Cellular Machine with Eight Active Sites Working Together
2007 StandoutNobel
Myelination and support of axonal integrity by glia
2010 Nature
Metabolic cardiomyopathies
2000
Symptoms and Suffering at the End of Life in Children with Cancer
2000 Standout
Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance‐associated protein
1996
Mouse models of mitochondrial dysfunction and heart failure
2004
Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand?
2016
Fanconi Anemia Gene Editing by the CRISPR/Cas9 System
2014
Giant peroxisomes in oleic acid-induced Saccharomyces cerevisiae lacking the peroxisomal membrane protein Pmp27p.
1995
The human AQP4 gene: definition of the locus encoding two water channel polypeptides in brain.
1996 StandoutNobel
PEX11 promotes peroxisome division independently of peroxisome metabolism
2002
Mammalian Neural Stem Cells
2000 StandoutScience
AAVrh.10-Mediated APOE2 Central Nervous System Gene Therapy for APOE4-Associated Alzheimer's Disease
2018
Biosynthesis of the Caenorhabditis elegans dauer pheromone
2009 StandoutNobel
Nuclear Receptors and Lipid Physiology: Opening the X-Files
2001 StandoutScience
Membrane growth can generate a transmembrane pH gradient in fatty acid vesicles
2004 StandoutNobel
The ATP binding cassette transporter ABC1, is required for the engulfment of corpses generated by apoptotic cell death.
1996
A vesicle carrier that mediates peroxisome protein traffic from the endoplasmic reticulum
2010 StandoutNobel
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives
2013
DAF-16 Target Genes That Control C. elegans Life-Span and Metabolism
2003 StandoutScienceNobel
FATP2 is a hepatic fatty acid transporter and peroxisomal very long-chain acyl-CoA synthetase
2010
Longer metaphase and fewer chromosome segregation errors in modern human than Neanderthal brain development
2022 StandoutNobel
Amino acid permeases require COPII components and the ER resident membrane protein Shr3p for packaging into transport vesicles in vitro.
1996 StandoutNobel
PEROXISOMAL β-OXIDATION AND PEROXISOME PROLIFERATOR –ACTIVATED RECEPTOR α: An Adaptive Metabolic System
2001
ABC transporters: bacterial exporters
1993
Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.
1991
How neuroinflammation contributes to neurodegeneration
2016 StandoutScience
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Mammalian ABC Transporters in Health and Disease
2002
Peroxisome Biogenesis Disorders
2003
Biology of Oligodendrocyte and Myelin in the Mammalian Central Nervous System
2001 Standout
The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization
1993 StandoutNobel
Genetic Dissection of Complex Traits
1994 StandoutScience
Post-translational protein import and folding
1994
Viral Vectors for Gene Therapy: Translational and Clinical Outlook
2015
Identification of Pex13p a peroxisomal membrane receptor for the PTS1 recognition factor.
1996 StandoutNobel
A multidrug resistance transporter from human MCF-7 breast cancer cells
1998 Standout
Altered expression of ALDP in X-linked adrenoleukodystrophy.
1995
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
1995
In vivo hematopoietic stem cell modification by mRNA delivery
2023 StandoutScienceNobel
An internal region of the peroxisomal membrane protein PMP47 is essential for sorting to peroxisomes
1994
Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy
1984
Targeted gene knock-in by homology-directed genome editing using Cas9 ribonucleoprotein and AAV donor delivery
2017 StandoutNobel
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3.
1996
Fusion of a Kinase Gene, ALK , to a Nucleolar Protein Gene, NPM , in Non-Hodgkin's Lymphoma
1994 StandoutScience
PapA1 and PapA2 are acyltransferases essential for the biosynthesis of theMycobacterium tuberculosisvirulence factor Sulfolipid-1
2007 StandoutNobel
Connections between the immune system and the nervous system.
1993
A mouse model for X-linked adrenoleukodystrophy
1997
Adrenoleukodystrophy: Biochemical procedures in diagnosis, prevention and treatment
1987
Unique double-ring structure of the peroxisomal Pex1/Pex6 ATPase complex revealed by cryo-electron microscopy
2015 StandoutNobel
Very long chain fatty acids in higher animals—A review
1995
Conservation of sequence and structure flanking the mouse and human β-globin loci: The β-globin genes are embedded within an array of odorant receptor genes
1999 StandoutNobel
Role of ALDP (ABCD1) and Mitochondria in X-Linked Adrenoleukodystrophy
2003
Hepatocyte-specific Pten deficiency results in steatohepatitis and hepatocellular carcinomas
2004 StandoutNobel
Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis
2000
Works of Patrick Aubourg being referenced
Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate
2009
Adrenoleukodystrophy gene: Unexpected homology to a protein involved in peroxisome biogenesis
1993
Localization of mRNAs for adrenoleukodystrophy and the 70 kDa peroxisomal (PMP70) proteins in the rat brain during post‐natal development
1995
Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype
2018
Retroviral‐mediated adrenoleukodystrophy‐related gene transfer corrects very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts: implications for therapy
1999
Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation
1990
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
2011
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
1993 Nature
Homo- and Heterodimerization of Peroxisomal ATP-binding Cassette Half-transporters
1999
A Two-Year Trial of Oleic and Erucic Acids (“Lorenzo's Oil”) as Treatment for Adrenomyeloneuropathy
1993
Enoyl-CoA Hydratase Deficiency: Identification of a New Type of D-Bifunctional Protein Deficiency
1999
Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases
1999
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
1994
Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy
2000
Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines
1998
Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo
2004
Excessive production of tumour necrosis factor α by peripheral blood mononuclear cells in X-linked adrenoleukodystrophy
1998
Etiological Diagnosis of Primary Adrenal Insufficiency Using an Original Flowchart of Immune and Biochemical Markers1
1998
Genomic Organization of the Adrenoleukodystrophy Gene
1994
Expression of the Adrenoleukodystrophy Protein in the Human and Mouse Central Nervous System
1997
Retroviral Transfer and Long-Term Expression of the Adrenoleukodystrophy Gene in Human CD34 + Cells
1998
The protein coded by the X‐adrenoleukodystrophy gene is a peroxisomal integral membrane protein
1994
A 195-kb cosmid walk encompassing the human Xq28 color vision pigment genes
1990
Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice
2003
Hematopoietic Stem Cell Transplantation and Hematopoietic Stem Cell Gene Therapy in X‐Linked Adrenoleukodystrophy
2010
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
1994
Molecular Mechanism of Detectable Catalase-Containing Particles, Peroxisomes, in Fibroblasts from a PEX2-Defective Patient
2000
Peroxisomes, Myelination, and Axonal Integrity in the CNS
2009
Fenofibrate differently alters expression of genes encoding ATP‐binding transporter proteins of the peroxisomal membrane
1997
Bioinformatic Clonality Analysis of Next-Generation Sequencing-Derived Viral Vector Integration Sites
2012
Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy
1992
The red-green visual pigment gene region in adrenoleukodystrophy.
1990
Linkage of adrenoleukodystrophy to a polymorphic DNA probe
1987
Comparative Efficacy and Safety of Multiple Routes of Direct CNS Administration of Adeno-Associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human Arylsulfatase A cDNA to Nonhuman Primates
2014
Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999
2004
The cerebro-hepato-renal (Zellweger) syndrome: Lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma
1985
Hepatic peroxisomes are deficient in infantile refsum disease: A cytochemical study of 4 cases
1986
X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients.
1996
Neonatal adrenoleukodystrophy.
1986
Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.
1991
Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood
1990
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
1996
Enzyme, cell and gene‐based therapies for metachromatic leukodystrophy
2007