Associated Papers
Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.
Amprosi M et al.
Journal of Neurology, 2026
Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5-Year Update.
Rayannavar A et al.
American Journal of Medical Genetics. Part A, 2025
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL et al.
Current Issues in Molecular Biology, 2024
Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts.
Petrillo S et al.
Antioxidants (basel, Switzerland), 2022
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
The clinical spectrum of X-linked adrenoleukodystrophy: from Addison's-only in men to middle-age neurologic manifestations in women.
Fadiga L et al.
Hormones (athens, Greece), 2022
Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.
Mallack EJ et al.
Cells, 2022
Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.
Liu S et al.
Molecular Genetics & Genomic Medicine, 2022
Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.
Dong B et al.
International Journal of Endocrinology, 2022
A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.
Zhang Y et al.
Genes & Diseases, 2021
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
Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy.
Li J et al.
Bmc Neurology, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.
Habekost CT et al.
Orphanet Journal of Rare Diseases, 2014
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
Pereira Fdos S et al.
Plos One, 2012
Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.
Kemp S et al.
British Journal of Pharmacology, 2011
Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression.
Zhang X et al.
The Biochemical Journal, 2011
Biochemical aspects of X-linked adrenoleukodystrophy.
Kemp S et al.
Brain Pathology (zurich, Switzerland), 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment.
Kemp S et al.
Molecular Genetics and Metabolism, 2007
[Adrenoleukodystrophy: structure and function of ALDP, and intracellular behavior of mutant ALDP with naturally occurring missense mutations].
Takahashi N et al.
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2007
Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.
Chiu HC et al.
Pediatric Neurology, 2006
[X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].
Pan H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy.
Matsumoto T et al.
Journal of Human Genetics, 2003
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
Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.
Roerig P et al.
Febs Letters, 2001
Predicted structures of two proteins involved in human diseases.
Zhou HX et al.
Cell Biochemistry and Biophysics, 2001
Mutational analysis of X-linked adrenoleukodystrophy gene.
Takano H et al.
Cell Biochemistry and Biophysics, 2000
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999
Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy.
Boehm CD et al.
Molecular Genetics and Metabolism, 1999
Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.
Kemp S et al.
Nature Medicine, 1998
Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.
Korenke GC et al.
European Journal of Endocrinology, 1997
Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype.
Korenke GC et al.
Annals of Neurology, 1996
Altered expression of ALDP in X-linked adrenoleukodystrophy.
Watkins PA et al.
American Journal of Human Genetics, 1995
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
Fanen P et al.
The Journal of Clinical Investigation, 1994