Associated Papers
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Chen ZP et al.
Nature Communications, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson J et al.
International Journal of Neonatal Screening, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
Lee S et al.
Jama Network Open, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
Niu YF et al.
Gene, 2013
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
Salsano E et al.
Orphanet Journal of Rare Diseases, 2012
Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
Takahashi N et al.
Journal of Neurochemistry, 2007
X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.
Berger J et al.
Biochimica Et Biophysica Acta, 2006
Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.
Gärtner J et al.
Endocrine Research, 2002
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Kemp S et al.
Human Mutation, 2001
Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
Liu LX et al.
The Journal of Biological Chemistry, 1999
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999
Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.
Kemp S et al.
Nature Medicine, 1998
Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.
Braiterman LT et al.
Human Molecular Genetics, 1998
Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients.
Imamura A et al.
Clinical Genetics, 1997
Altered expression of ALDP in X-linked adrenoleukodystrophy.
Watkins PA et al.
American Journal of Human Genetics, 1995
Mutational analysis of patients with X-linked adrenoleukodystrophy.
Kok F et al.
Human Mutation, 1995