Published in Hum Mutat on January 01, 2011
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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. Am J Hum Genet (2015) 0.90
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A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. BMC Med Genet (2012) 0.87
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Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. Orphanet J Rare Dis (2013) 0.87
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The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. Mol Genet Metab (2014) 0.83
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. J Neurol (2016) 0.80
Endocrine manifestations related to inherited metabolic diseases in adults. Orphanet J Rare Dis (2012) 0.79
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. Mol Genet Metab Rep (2016) 0.79
hfAIM: A reliable bioinformatics approach for in silico genome-wide identification of autophagy-associated Atg8-interacting motifs in various organisms. Autophagy (2016) 0.76
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders. J Inherit Metab Dis (2016) 0.75
Genetic Interactions between PEROXIN12 and Other Peroxisome-Associated Ubiquitination Components. Plant Physiol (2016) 0.75
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. BMC Med Genet (2011) 0.75
Clinical utility gene card for: Zellweger syndrome spectrum. Eur J Hum Genet (2014) 0.75
Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios. J Lipid Res (2016) 0.75
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. JIMD Rep (2015) 0.75
Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line. Histochem Cell Biol (2016) 0.75
Spectrum of PEX1 and PEX6 variants in Heimler syndrome. Eur J Hum Genet (2016) 0.75
Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report. J Med Case Rep (2017) 0.75
Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients. J Inherit Metab Dis (2016) 0.75
A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med (2007) 5.27
Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem (2006) 3.59
Monocarboxylate transporter 1 deficiency and ketone utilization. N Engl J Med (2014) 3.36
A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation. J Inherit Metab Dis (2010) 2.47
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis (2012) 2.28
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype. Hepatology (2014) 2.19
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain (2014) 2.16
Carnitine biosynthesis in mammals. Biochem J (2002) 2.13
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA (2006) 2.11
Cardiolipin provides an essential activating platform for caspase-8 on mitochondria. J Cell Biol (2008) 2.06
Functions and biosynthesis of plasmalogens in health and disease. Biochim Biophys Acta (2004) 2.04
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome. Mol Microbiol (2004) 1.90
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A (2004) 1.82
Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I. Clin Chem (2004) 1.73
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis (2010) 1.68
Long-chain fatty acid oxidation during early human development. Pediatr Res (2005) 1.62
A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum (2006) 1.62
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics (2002) 1.59
Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol (2003) 1.59
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. J Lipid Res (2005) 1.56
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism. J Biol Chem (2003) 1.54
HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood (2008) 1.54
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J (2008) 1.51
Peroxisomal disorders: the single peroxisomal enzyme deficiencies. Biochim Biophys Acta (2006) 1.51
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid. Mol Genet Metab (2004) 1.50
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet (2004) 1.50
Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard (2005) 1.48
Myeloid dysplasia in familial 3-methylglutaconic aciduria. J Pediatr Hematol Oncol (2006) 1.42
Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling. Mol Cell Proteomics (2007) 1.41
Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol (2006) 1.41
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Am J Hum Genet (2003) 1.40
The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome. J Biol Chem (2004) 1.39
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics (2006) 1.38
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis (2012) 1.37
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr (2006) 1.33
Comparison of kinome profiles of Barrett's esophagus with normal squamous esophagus and normal gastric cardia. Cancer Res (2006) 1.32
Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum (2002) 1.30
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. J Inherit Metab Dis (2010) 1.29
Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry. Mol Genet Metab (2003) 1.28
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrol Dial Transplant (2003) 1.28
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. Am J Hum Genet (2006) 1.27
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet (2003) 1.27
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J Pediatr (2002) 1.27
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. EMBO Mol Med (2010) 1.26
Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1. Mol Immunol (2008) 1.22
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. Am J Hum Genet (2005) 1.22
Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int (2004) 1.21
Mitochondrial long chain fatty acid beta-oxidation in man and mouse. Biochim Biophys Acta (2009) 1.20
Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients. Clin Chem (2002) 1.20
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat (2004) 1.18
Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann Neurol (2010) 1.18
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. J Med Genet (2012) 1.17
Increased intramyocellular lipid content but normal skeletal muscle mitochondrial oxidative capacity throughout the pathogenesis of type 2 diabetes. FASEB J (2008) 1.17
Identification and characterization of human cardiolipin synthase. FEBS Lett (2006) 1.17
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr (2006) 1.17
Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet (2003) 1.17
Metabolite transport across the peroxisomal membrane. Biochem J (2007) 1.16
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet (2010) 1.16
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations. Mol Genet Metab (2009) 1.16
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). Eur J Hum Genet (2009) 1.15
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. Ann Neurol (2002) 1.15
Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance. Br J Pharmacol (2011) 1.13
The peroxisomal lumen in Saccharomyces cerevisiae is alkaline. J Cell Sci (2004) 1.11
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain (2010) 1.11
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. Am J Med Genet A (2004) 1.11
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2005) 1.11
Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids. J Lipid Res (2004) 1.10
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med (2010) 1.09
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum Mol Genet (2002) 1.09
Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse. Biochem J (2005) 1.08
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. Am J Hum Genet (2006) 1.08
PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease. Nucleic Acids Res (2006) 1.08