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Disease on EC 1.2.1.48 - long-chain-aldehyde dehydrogenase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Asthma
A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma.
Breast Neoplasms
Identification of new cancer stem cell markers and signaling pathways in HER?2?positive breast cancer by transcriptome sequencing.
Carcinoma, Hepatocellular
Activation of AMP-kinase by Policosanol Requires Peroxisomal Metabolism.
Carcinoma, Squamous Cell
Association of
Cerebral Palsy
Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients.
Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system.
Colorectal Neoplasms
ALDH3B2 Polymorphism Is Associated with Colorectal Cancer Susceptibility.
Genetic Diseases, Inborn
Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization.
Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.
Ichthyosis
A common deletion mutation in European patients with Sjögren-Larsson syndrome.
Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.
Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report.
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH).
Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.
Large contiguous gene deletions in Sjögren-Larsson syndrome.
Mutations associated with Sjögren-Larsson syndrome.
Novel Mutation in Sjogren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes.
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.
Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients.
Sjögren-Larsson syndrome: biochemical defects and follow up in three cases.
Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system.
Sjögren-Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort.
The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
Update on Sjögren-Larsson syndrome.
Intellectual Disability
A common deletion mutation in European patients with Sjögren-Larsson syndrome.
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.
Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report.
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH).
Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.
Large contiguous gene deletions in Sjögren-Larsson syndrome.
Novel Mutation in Sjogren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes.
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.
Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients.
Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system.
Sjögren-Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort.
The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
Update on Sjögren-Larsson syndrome.
Leukoencephalopathies
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.
long-chain-aldehyde dehydrogenase deficiency
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.
Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.
Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.
Macular Degeneration
Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.
Muscle Spasticity
Mutations associated with Sjögren-Larsson syndrome.
Novel Mutation in Sjogren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes.
Sjögren-Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort.
Update on Sjögren-Larsson syndrome.
Neoplasms
Label-Free Semiquantitative Liquid Chromatography-Tandem Mass Spectrometry Proteomics Analysis of Laryngeal/Hypopharyngeal Squamous Cell Carcinoma on Formalin-Fixed, Paraffin-Embedded Tissue Samples - a Pilot Study.
Nervous System Diseases
Mutations associated with Sjögren-Larsson syndrome.
Neuroblastoma
Involvement of aldehyde dehydrogenase 1A2 in the regulation of cancer stem cell properties in neuroblastoma.
Neurocutaneous Syndromes
5-Lipoxygenase inhibition: a new treatment strategy for Sjögren-Larsson syndrome.
A common deletion mutation in European patients with Sjögren-Larsson syndrome.
A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.
Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report.
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome.
Impaired skin barrier function due to reduced ?-O-acylceramide levels in a mouse model of Sjögren-Larsson syndrome.
MRI and 1H-MRS findings of three patients with Sjögren-Larsson syndrome.
Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.
Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
Sjögren-Larsson syndrome: phenotypic variability in two brothers with a neurocutaneous disorder.
Update on Sjögren-Larsson syndrome.
[Sjögren-Larsson syndrome: a novel mutation in a Moroccan child]
Paraparesis, Spastic
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.
Pulmonary Disease, Chronic Obstructive
Prediction of new targets and mechanisms for quercetin in the treatment of pancreatic cancer, colon cancer, and rectal cancer.
Quadriplegia
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients.
Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system.
Sjögren-Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort.
Update on Sjögren-Larsson syndrome.
Sjogren-Larsson Syndrome
5-Lipoxygenase inhibition: a new treatment strategy for Sjögren-Larsson syndrome.
A common deletion mutation in European patients with Sjögren-Larsson syndrome.
A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjögren-Larsson syndrome.
Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.
Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome.
Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren-Larsson syndrome.
Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome.
Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids.
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome.
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.
Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome.
Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH).
Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression.
Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization.
Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.
Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.
Microsomal fatty aldehyde dehydrogenase catalyzes the oxidation of aliphatic aldehyde derived from ether glycerolipid catabolism: implications for Sjögren-Larsson syndrome.
Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal.
MRI and 1H-MRS findings of three patients with Sjögren-Larsson syndrome.
Mutations associated with Sjögren-Larsson syndrome.
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.
Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome?
Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.
Sjögren-Larsson syndrome.
Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts.
Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients.
Sjögren-Larsson syndrome: biochemical defects and follow up in three cases.
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.
Sjogren-Larsson syndrome: A rare neurocutaneous disorder.
Sjogren-Larsson Syndrome: Mechanisms and Management.
Sjögren-Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort.
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.
The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.
Update on Sjögren-Larsson syndrome.
[Sjögren-Larsson syndrome: a novel mutation in a Moroccan child]