Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
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Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approachInborn errors of metabolism in the biosynthesis and remodelling of phospholipids.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Changes of myocardial lipidomics profiling in a rat model of diabetic cardiomyopathy using UPLC/Q-TOF/MS analysis.CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaLoss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseAnnotation of the human cerebrospinal fluid lipidome using high resolution mass spectrometry and a dedicated data processing workflow.Role for Lipid Droplet Biogenesis and Microlipophagy in Adaptation to Lipid Imbalance in Yeast.Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.Development of pharmacological strategies for mitochondrial disorders.High resolution mass spectrometry based techniques at the crossroads of metabolic pathways.An overview of inborn errors of complex lipid biosynthesis and remodelling.Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron.Lipidomic analysis of cerebrospinal fluid by mass spectrometry-based methods.Signal transduction in inherited metabolic disorders: a model for a possible pathogenetic mechanism.Association study reveals novel risk loci for sporadic inclusion body myositis.Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy.Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.A strategy for multimodal data integration: application to biomarkers identification in spinocerebellar ataxia.Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.Clinico-radiological and genetic features of a common neuro-ichthyotic syndrome.Biochemical Characterization of the c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic AtaxiaToxic, Metabolic and Physical Insults to the Nervous System and Inherited Disorders of MetabolismErrors in protein synthesis increase the level of saturated fatty acids and affect the overall lipid profiles of yeastBiochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipidsBerberine Could Ameliorate Cardiac Dysfunction via Interfering Myocardial Lipidomic Profiles in the Rat Model of Diabetic Cardiomyopathy
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Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
description
article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Disorders of phospholipids, sp ...... inherited metabolic diseases.
@en
type
label
Disorders of phospholipids, sp ...... inherited metabolic diseases.
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prefLabel
Disorders of phospholipids, sp ...... inherited metabolic diseases.
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P2093
P2860
P1476
Disorders of phospholipids, sp ...... inherited metabolic diseases.
@en
P2093
P2860
P2888
P304
P356
10.1007/S10545-012-9509-7
P577
2012-07-20T00:00:00Z
P5875
P6179
1017417100