Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.

PubWeight™: 1.81‹?› | Rank: Top 3%

🔗 View Article (PMID 7202134)

Published in Neurology on October 01, 1981

Authors

H W Moser, A B Moser, K K Frayer, W Chen, J D Schulman, B P O'Neill, Y Kishimoto

Articles citing this

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis (2012) 2.28

Peroxisomal bifunctional enzyme deficiency. J Clin Invest (1989) 2.11

Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Proc Natl Acad Sci U S A (1984) 1.75

A mouse model for X-linked adrenoleukodystrophy. Proc Natl Acad Sci U S A (1997) 1.20

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. J Neurol Neurosurg Psychiatry (1997) 1.09

Altered expression of ALDP in X-linked adrenoleukodystrophy. Am J Hum Genet (1995) 1.08

Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy. J Clin Invest (1983) 1.04

Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil". J Neurol Neurosurg Psychiatry (1999) 1.01

Rational diagnostic strategy for Zellweger syndrome spectrum patients. Eur J Hum Genet (2009) 1.00

X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids. J Neurol Neurosurg Psychiatry (1994) 0.94

Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females. Am J Pathol (1982) 0.93

Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders. J Clin Invest (1987) 0.91

Brain tissue immunoglobulins in adrenoleukodystrophy: a comparison with multiple sclerosis and systemic lupus erythematosus. Acta Neuropathol (1983) 0.86

An 11-year-old boy with dark skin, swallowing difficulty and absence of tears. Indian J Dermatol (2009) 0.85

Enhanced production of nitric oxide, reactive oxygen species, and pro-inflammatory cytokines in very long chain saturated fatty acid-accumulated macrophages. Lipids Health Dis (2008) 0.83

Prenatal and perinatal diagnosis of peroxisomal disorders. J Inherit Metab Dis (1989) 0.82

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis. Appl Clin Genet (2015) 0.82

Metabolism of saturated and polyunsaturated very-long-chain fatty acids in fibroblasts from patients with defects in peroxisomal beta-oxidation. Biochem J (1990) 0.81

Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy. Mol Ther (2015) 0.80

Adrenoleukodystrophy: biochemical procedures in diagnosis, prevention and treatment. J Inherit Metab Dis (1987) 0.80

Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India. PLoS One (2011) 0.80

Identification of a substrate-binding site in a peroxisomal beta-oxidation enzyme by photoaffinity labeling with a novel palmitoyl derivative. J Biol Chem (2010) 0.79

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man. PLoS One (2016) 0.79

Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history. Nat Rev Endocrinol (2016) 0.79

Abcd2 is a strong modifier of the metabolic impairments in peritoneal macrophages of ABCD1-deficient mice. PLoS One (2014) 0.78

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study. J Inherit Metab Dis (2014) 0.77

X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients. PLoS One (2012) 0.77

25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome. Nat Commun (2016) 0.77

A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS. Mol Genet Metab Rep (2016) 0.75

An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree. J Mol Genet Med (2016) 0.75

Adrenomyeloneuropathy. Ulster Med J (1987) 0.75

Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy. Mol Genet Metab Rep (2017) 0.75

Genetic Leukoencephalopathies in Adults. Continuum (Minneap Minn) (2016) 0.75

Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels. J Inherit Metab Dis (1988) 0.75

Articles by these authors

Rapid turnover of plasma virions and CD4 lymphocytes in HIV-1 infection. Nature (1995) 34.97

Differential regulation and properties of MAPKs. Oncogene (2007) 6.36

Positron emission tomography in evaluation of dementia: Regional brain metabolism and long-term outcome. JAMA (2001) 5.13

Phosphatidylinositol 4,5-bisphosphate functions as a second messenger that regulates cytoskeleton-plasma membrane adhesion. Cell (2000) 4.45

Anesthesiologist direction and patient outcomes. Anesthesiology (2000) 4.31

GPCRDB: an information system for G protein-coupled receptors. Nucleic Acids Res (1998) 3.94

Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptor. Nature (1994) 3.70

Dendritic anomalies in disorders associated with mental retardation. Cereb Cortex (2000) 3.69

A large-scale insertional mutagenesis screen in zebrafish. Genes Dev (1999) 3.57

International Myeloma Working Group guidelines for serum-free light chain analysis in multiple myeloma and related disorders. Leukemia (2008) 3.41

Distinguishing between mechanisms of eukaryotic transcriptional activation with bacteriophage T7 RNA polymerase. Cell (1987) 3.26

Yeast mRNA initiation sites are determined primarily by specific sequences, not by the distance from the TATA element. EMBO J (1985) 2.87

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci U S A (1981) 2.83

Intranasal lidocaine for treatment of migraine: a randomized, double-blind, controlled trial. JAMA (1996) 2.83

The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes. Mol Psychiatry (2006) 2.80

Experimental investigation of geologically produced antineutrinos with KamLAND. Nature (2005) 2.75

Critical care transport: outcome evaluation after interfacility transfer and hospitalization. Ann Emerg Med (1999) 2.71

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet (1995) 2.62

Human homologue of the Drosophila melanogaster lats tumour suppressor modulates CDC2 activity. Nat Genet (1999) 2.60

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science (1982) 2.49

Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification. Nat Genet (1999) 2.46

Microstrip RF surface coil design for extremely high-field MRI and spectroscopy. Magn Reson Med (2001) 2.43

MR findings in adult-onset adrenoleukodystrophy. AJNR Am J Neuroradiol (1995) 2.42

A unified nomenclature for peroxisome biogenesis factors. J Cell Biol (1996) 2.25

CDKN2 gene silencing in lung cancer by DNA hypermethylation and kinetics of p16INK4 protein induction by 5-aza 2'deoxycytidine. Oncogene (1995) 2.23

Aspirin prophylaxis in migraine. Lancet (1978) 2.21

Transcriptome analysis and molecular signature of human retinal pigment epithelium. Hum Mol Genet (2010) 2.20

Multivariate matching and bias reduction in the surgical outcomes study. Med Care (2001) 2.19

Ginsenoside-Rd improves outcome of acute ischaemic stroke - a randomized, double-blind, placebo-controlled, multicenter trial. Eur J Neurol (2012) 2.18

A microplate assay for the detection of oxidative products using 2',7'-dichlorofluorescin-diacetate. J Immunol Methods (1992) 2.17

Pleiotrophin signals increased tyrosine phosphorylation of beta beta-catenin through inactivation of the intrinsic catalytic activity of the receptor-type protein tyrosine phosphatase beta/zeta. Proc Natl Acad Sci U S A (2000) 2.15

The number and location of glycans on influenza hemagglutinin determine folding and association with calnexin and calreticulin. J Cell Biol (1997) 2.14

Frequent somatic hypermutation of the 5' noncoding region of the BCL6 gene in B-cell lymphoma. Proc Natl Acad Sci U S A (1995) 2.13

Unloaded heart in vivo replicates fetal gene expression of cardiac hypertrophy. Nat Med (1998) 2.12

The antiapoptotic gene mcl-1 is up-regulated by the phosphatidylinositol 3-kinase/Akt signaling pathway through a transcription factor complex containing CREB. Mol Cell Biol (1999) 2.12

Essential role of growth hormone in ischemia-induced retinal neovascularization. Science (1997) 2.11

Peroxisomal bifunctional enzyme deficiency. J Clin Invest (1989) 2.11

Existent T-cell and antibody immunity to HER-2/neu protein in patients with breast cancer. Cancer Res (1994) 2.10

Epidemic of liver disease caused by hydrochlorofluorocarbons used as ozone-sparing substitutes of chlorofluorocarbons. Lancet (1997) 2.09

Falling cholecystectomy thresholds since the introduction of laparoscopic cholecystectomy. JAMA (1995) 2.08

Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. Nat Med (1998) 2.08

Production of tumor necrosis factor/cachectin by human B cell lines and tonsillar B cells. J Exp Med (1988) 2.07

Visual evoked potentials in adrenoleukodystrophy: a trial with glycerol trioleate and Lorenzo oil. Ann Neurol (1993) 2.07

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol (1999) 2.06

Completely diverted tube ileostomy compared with loop ileostomy for protection of low colorectal anastomosis: a pilot study. Colorectal Dis (2014) 2.06

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet (1994) 2.06

Refinement of the alpha aminooleic acid bioprosthetic valve anticalcification technique. Ann Thorac Surg (1997) 2.05

Biodegradation of organophosphorus pesticides by surface-expressed organophosphorus hydrolase. Nat Biotechnol (1997) 2.04

The multidrug resistance gene PDR1 from Saccharomyces cerevisiae. J Biol Chem (1987) 2.02

Reduced serum amino acid concentrations in infants with necrotizing enterocolitis. J Pediatr (2000) 1.97

Births of normal daughters after MicroSort sperm separation and intrauterine insemination, in-vitro fertilization, or intracytoplasmic sperm injection. Hum Reprod (1998) 1.97

Testicular lymphoma is associated with a high incidence of extranodal recurrence. Cancer (2000) 1.95

Is obesity a high-risk factor for laparoscopic colorectal surgery? Surg Endosc (2002) 1.95

An epidemiological study of lung cancer in Xuan Wei County, China: current progress. Case-control study on lung cancer and cooking fuel. Environ Health Perspect (1991) 1.95

The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation. Recent Prog Horm Res (1996) 1.94

Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes. J Biol Chem (1982) 1.94

MiR-200b and miR-15b regulate chemotherapy-induced epithelial-mesenchymal transition in human tongue cancer cells by targeting BMI1. Oncogene (2011) 1.94

Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med (1987) 1.92

Molecular cloning, expression, and functional significance of a cytochrome P450 highly expressed in rat heart myocytes. J Biol Chem (1997) 1.92

Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology (2003) 1.92

Cappuccino, a Drosophila maternal effect gene required for polarity of the egg and embryo, is related to the vertebrate limb deformity locus. Genes Dev (1995) 1.87

Infected cell protein (ICP)47 enhances herpes simplex virus neurovirulence by blocking the CD8+ T cell response. J Exp Med (1998) 1.85

Saposin proteins: structure, function, and role in human lysosomal storage disorders. FASEB J (1991) 1.84

Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy. Ann Neurol (1984) 1.83

Caloric restriction reverses hepatic insulin resistance in aging rats by decreasing visceral fat. J Clin Invest (1998) 1.82

Synectin, syndecan-4 cytoplasmic domain binding PDZ protein, inhibits cell migration. J Cell Physiol (2000) 1.82

Effects of pioglitazone on adipose tissue remodeling within the setting of obesity and insulin resistance. Diabetes (2001) 1.80

Identification of a methylation imprint mark within the mouse Gnas locus. Mol Cell Biol (2000) 1.78

Negative regulation of the tumor suppressor p53 gene by microRNAs. Oncogene (2010) 1.78

Pseudotumor cerebri. Ann Intern Med (1982) 1.78

Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diagn (1991) 1.77

Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. Neurology (2005) 1.77

Awake craniotomy for aggressive resection of primary gliomas located in eloquent brain. Mayo Clin Proc (2001) 1.77

An approach to probe some neural systems interaction by functional MRI at neural time scale down to milliseconds. Proc Natl Acad Sci U S A (2000) 1.75

MUC1 oncoprotein is targeted to mitochondria by heregulin-induced activation of c-Src and the molecular chaperone HSP90. Oncogene (2006) 1.75

Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Proc Natl Acad Sci U S A (1984) 1.75

Co-translational folding of an alphavirus capsid protein in the cytosol of living cells. Nat Cell Biol (1999) 1.74

Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol (2001) 1.71

Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria. N Engl J Med (1978) 1.71

Relation of isovolumic relaxation to left ventricular wall movement in man. Br Heart J (1979) 1.71

Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol (1980) 1.71

Ischemic preconditioning activates phosphatidylinositol-3-kinase upstream of protein kinase C. Circ Res (2000) 1.71

Neurological features of cranial vault lymphomas: report of two cases. Neurosurgery (1991) 1.70

Allele-specific chromosome 3p deletions occur at an early stage in the pathogenesis of lung carcinoma. JAMA (1995) 1.69

Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J Invest Dermatol (2001) 1.69

Secreted aspartic proteinase (Sap) activity contributes to tissue damage in a model of human oral candidosis. Mol Microbiol (1999) 1.69

MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet (2001) 1.67

Primary structure, neural-specific expression, and dendritic location of human BC200 RNA. J Neurosci (1993) 1.67

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology (2000) 1.67

The contribution of childhood obesity to adult carotid intima-media thickness: the Bogalusa Heart Study. Int J Obes (Lond) (2008) 1.66

Interactions between distinct types of DNA binding proteins enhance binding to ocs element promoter sequences. Plant Cell (1995) 1.65

Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. Am J Dis Child (1969) 1.65

Quantitation of hepatic glucose fluxes and pathways of hepatic glycogen synthesis in conscious mice. Am J Physiol (1995) 1.64

beta-Arrestin-mediated ADP-ribosylation factor 6 activation and beta 2-adrenergic receptor endocytosis. J Biol Chem (2001) 1.63

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. EMBO J (1996) 1.62