Associated Papers
From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy.
Zuo X et al.
Lipids in Health and Disease, 2024
In vivo adenine base editing rescues adrenoleukodystrophy in a humanized mouse model.
Gopalappa R et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
Brainstem dominant form of X-linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review.
Kang Y et al.
Molecular Genetics & Genomic Medicine, 2024
Innovative tree-based method for sampling molecular conformations: exploring the ATP-binding cassette subfamily D member 1 (ABCD1) transporter as a case study.
Haschka T et al.
Frontiers in Molecular Biosciences, 2024
Ocular findings and genomics of X-linked recessive disorders: A review.
Hassan A et al.
Indian Journal of Ophthalmology, 2022
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Chen ZP et al.
Nature Communications, 2022
Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair.
Sik Jung E et al.
Stem Cell Research, 2022
Structural basis of acyl-CoA transport across the peroxisomal membrane by human ABCD1.
Wang R et al.
Cell Research, 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
The etiology and clinical features of non-CAH primary adrenal insufficiency in children.
Liu Z et al.
Frontiers in Pediatrics, 2022
Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy.
Yada Y et al.
Molecular Genetics and Metabolism Reports, 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson J et al.
International Journal of Neonatal Screening, 2021
Proteasome-dependent protein quality control of the peroxisomal membrane protein Pxa1p.
Devarajan S et al.
Biochimica Et Biophysica Acta. Biomembranes, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.
Dekker MCJ et al.
Case Reports in Genetics, 2019
Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN).
Son D et al.
Stem Cell Research, 2017
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
Guran T et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
An unusual presentation of X-linked adrenoleukodystrophy.
Suryawanshi A et al.
Endocrinology, Diabetes & Metabolism Case Reports, 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
A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.
Morita M et al.
Jimd Reports, 2013
Adrenoleukodystrophy: a forgotten diagnosis in children with primary Addison's disease.
Nascimento M et al.
Bmj Case Reports, 2012
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
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
Shimozawa N et al.
Journal of Human Genetics, 2011
Biochemical aspects of X-linked adrenoleukodystrophy.
Kemp S et al.
Brain Pathology (zurich, Switzerland), 2010
Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy.
Wang Z et al.
Clinical Chemistry and Laboratory Medicine, 2008
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
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
Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.
Guimarães CP et al.
Molecular Genetics and Metabolism, 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
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
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
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
Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.
Yamada T et al.
Neurochemical Research, 1997
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
Feigenbaum V et al.
American Journal of Human Genetics, 1996
Mutational analysis of patients with X-linked adrenoleukodystrophy.
Kok F et al.
Human Mutation, 1995