Keywords: سندروم Zellweger; Peroxisomes; Laboratory diagnosis; Fatty acid oxidation; Plasmalogens; Zellweger syndrome; Inborn errors of metabolism; Genetic diseases; Metabolomics; Lipidomics;
مقالات ISI سندروم Zellweger (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: سندروم Zellweger; Very-long-chain fatty acid; Phytanic acid; Pristanic acid; Plasmalogens; Zellweger syndrome; X-linked adrenoleukodystrophy; Peroxisomal diseases;
Keywords: سندروم Zellweger; 8-OHG; 8-hydroxyguanosine; HNE; hydroxy-2-nonenal; IF; immunofluorescence; MEFs; mouse embryonic fibroblasts; PBS; phosphate-buffered saline; TPH2; tryptophan hydroxylase-2; ZS; Zellweger syndrome; Zellweger syndrome; PEX13 deficiency; mitochondria; oxida
Keywords: سندروم Zellweger; Peroxisomes; Fatty acid; Endoplasmic reticulum; Peroxisomal disorders; Zellweger syndrome;
Keywords: سندروم Zellweger; ZS; Zellweger syndrome; DBP; d-bifunctional protein; PE; phosphatidylethanolamine; VLCFA; very long chain fatty acid; PC; phosphatidylcholine; ACOX1; peroxisomal acyl coenzyme-A oxidase; GNPAT; glyceronephosphate O-acyltransferase; CNS; central nervous sy
A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma
Keywords: سندروم Zellweger; Zellweger syndrome; Ocular medulloepithelioma; Optic neuropathy; Leukodystrophy;
Impaired neurogenesis and associated gliosis in mouse brain with PEX13 deficiency
Keywords: سندروم Zellweger; Zellweger syndrome; PEX13 mutant; Brain development; Neurons; Glia; Inflammation;
Disruption of peroxisome function leads to metabolic stress, mTOR inhibition, and lethality in liver cancer cells
Keywords: سندروم Zellweger; Peroxisome; Peroxisomal biogenesis factor 2; Mammalian target of rapamycin complex 1; Metabolic stress; Human hepatocellular carcinoma; PEXs; peroxins; PTS; peroxisome targeting signal; PBD; peroxisome biogenesis disorder; ZS; Zellweger syndrome; HCC; hum
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
Keywords: سندروم Zellweger; ZSDs; Zellweger spectrum disorders; VLCFAs; very long-chain fatty acids; DHAPAT; dihydroxyacetonephosphate-acyltransferase; ACOX1; acyl-CoA oxidase 1; PEX3; PEX genes; Zellweger syndrome; Zellweger spectrum disorder; Peroxisomal biogenesis disorder; Crypt
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype
Keywords: سندروم Zellweger; Peroxisome biogenesis disorder; Peroxisome biogenesis factor 10 (PEX10); Compound heterozygote; Point mutation; Cerebellar ataxia; Zellweger syndrome; AFP; alpha fetoprotein; BWA; Burrows Wheeler Aligner; DHA; docosahexaenoic acid; dma; dimethyl acetal; F
Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing
Keywords: سندروم Zellweger; Zellweger syndrome; Whole-exome sequencing; PEX1; Newborn;
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
Keywords: سندروم Zellweger; AAV; adeno-associated virus; AED; anti-epileptic drug(s); DHA; docosahexaenoic acid; DHCA; dihydroxycholestanoic acid; ERG; electroretinogram; G-tube; gastrostomy tube; IRD; infantile Refsum disease; LC-MS/MS; liquid chromatography/tandem mass spectrometr
Targeting and insertion of peroxisomal membrane proteins: ER trafficking versus direct delivery to peroxisomes
Keywords: سندروم Zellweger; APX; Ascorbate peroxidase; ER; Endoplasmic reticulum; Get; Guided entry of TA proteins; PBD; Peroxisomal biogenesis disorder; PMPs; Peroxisomal membrane proteins; PTS; Peroxisomal targeting signals; RNC; Ribosome nascent chain complex; SRP; Signal recogni
Disruption of oxidative phosphorylation and synaptic Na+, K+-ATPase activity by pristanic acid in cerebellum of young rats
Keywords: سندروم Zellweger; Pristanic acid; Energy metabolism; Peroxisomal biogenesis disorders; Rat cerebellum; Zellweger syndrome
Revisiting the neuropathogenesis of Zellweger syndrome
Keywords: سندروم Zellweger; Zellweger syndrome; Neuropathogenesis; Neurodevelopment; Neurodegeneration; Peroxisome
Cholesterol biosynthesis and ER stress in peroxisome deficiency
Keywords: سندروم Zellweger; Peroxisomes; Cholesterol; Isoprenoid; Pex2; SREBP-2; ER stress; Integrated stress response; Unfolded protein response; Zellweger syndrome; ACAT; acetoacetyl-CoA thiolase; ATF; activating transcription factor; BA; bile acid; CHOP; C/EBP homologous protein;
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing
Keywords: سندروم Zellweger; Mutation; Next-generation sequencing; PEX1; Zellweger syndrome
Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases
Keywords: سندروم Zellweger; Peroxisomal diseases; Zellweger syndrome; Adrenoleukodystrophy; Diagnostic screening system
Choroby peroksysomalne
Keywords: سندروم Zellweger; choroby zaburzenia biogenezy peroksysomu; deficyt peroksysomalnego enzymu; zespóÅ Zellwegera; adrenoleukodystrofia; peroxisomal biogenesis disorders; single peroxisomal enzyme deficiencies; Zellweger syndrome; adrenoleukodystrophy;
Peroxisomes, lipid metabolism and lipotoxicity
Keywords: سندروم Zellweger; Fatty acid oxidation; Fatty acid; Plasmalogen; Bile acid; Zellweger syndrome; Adrenoleukodystrophy; Refsum disease
Phosphatidyl ethanolamine with increased polyunsaturated fatty acids in compensation for plasmalogen defect in the Zellweger syndrome brain
Keywords: سندروم Zellweger; ZS; Zellweger syndrome; PC; phosphatidyl choline; LPC; lysophosphatidyl choline; PS; phosphatidyl serine; CNS; central nervous system; TLC; thin-layer chromatography; SM; sphingomyelin; PE; phosphatidyl ethanolamine; LPE; lysophosphatidyl ethanolamine; FA
Early dietary treatments with Lorenzo’s oil and docosahexaenoic acid for neurological development in a case with Zellweger syndrome
Keywords: سندروم Zellweger; Zellweger syndrome; Docosahexaenoic acid; Lorenzo’s oil; Lunaria oil
Alpha-Oxidation
Keywords: سندروم Zellweger; Alpha-oxidation; Phytanic acid; Pristanic acid; Phytol; Refsum disease; Zellweger syndrome
Peroxisomal disorders: The single peroxisomal enzyme deficiencies
Keywords: سندروم Zellweger; Peroxisomes; Alpha-oxidation; Beta-oxidation; Zellweger syndrome; Refsum disease; Adrenoleukodystrophy; Hyperoxaluria; Plasmalogen
Peroxisome biogenesis disorders
Keywords: سندروم Zellweger; Zellweger syndrome; Neonatal adrenoleukodystrophy; Infantile refsum disease; Rhizomelic chondrodysplasia punctata; PEX