Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease - Wikidata - awgldk - TriplyDB

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

http://www.wikidata.org/entity/Q28369639

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Up-regulation of glucosylceramide synthase expression and activity during human keratinocyte differentiation A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism The clinical management of Type 2 Gaucher disease Viable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein Glycosphingolipid-Protein Interaction in Signal Transduction The role of epidermal sphingolipids in dermatologic diseases Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters Dual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formation Potential Applications of Phyto-Derived Ceramides in Improving Epidermal Barrier Function.Murine models of acute neuronopathic Gaucher disease.Sphingolipid activator proteins are required for epidermal permeability barrier formation.Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice.Effective cell and gene therapy in a murine model of Gaucher disease.Imaging mass spectrometry visualizes ceramides and the pathogenesis of dorfman-chanarin syndrome due to ceramide metabolic abnormality in the skin The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.Gaucher disease: insights from a rare Mendelian disorder.Morphological, biochemical and molecular biology approaches for the diagnosis of lysosomal storage diseases.Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.Glucosylceramides stimulate murine epidermal hyperproliferation.Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.Thematic review series: skin lipids. The role of epidermal lipids in cutaneous permeability barrier homeostasis.Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage.Epithelial barrier function: assembly and structural features of the cornified cell envelope.Type 2 Gaucher disease: the collodion baby phenotype revisited.Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death Topical hesperidin prevents glucocorticoid-induced abnormalities in epidermal barrier function in murine skin.Topical peroxisome proliferator activated receptor activators accelerate postnatal stratum corneum acidification.Lipid defect underlies selective skin barrier impairment of an epidermal-specific deletion of Gata-3.Acute modulations in permeability barrier function regulate epidermal cornification: role of caspase-14 and the protease-activated receptor type 2 Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.Alteration of the 4-sphingenine scaffolds of ceramides in keratinocyte-specific Arnt-deficient mice affects skin barrier function.Epidermal sphingolipids: metabolism, function, and roles in skin disorders.Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.The epidermis of grhl3-null mice displays altered lipid processing and cellular hyperproliferation Epidermal barrier: Adverse and beneficial changes induced by ultraviolet B irradiation depending on the exposure dose and time (Review)

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Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

http://www.wikidata.org/entity/Q28369639

description

1994 nî lūn-bûn

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1994 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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1994 թվականի ապրիլին հրատարակված գիտական հոդված

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1994年の論文

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Consequences of beta-glucocere ...... alterations in Gaucher disease

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Consequences of beta-glucocere ...... alterations in Gaucher disease

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C E McKinney

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E I Ginns

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E Sidransky

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function.

Sphingolipids are required for mammalian epidermal barrier function. Inhibition of sphingolipid synthesis delays barrier recovery after acute perturbation.

Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.

Crystal structures of membrane lipids.

Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity.

Structural and lipid biochemical correlates of the epidermal permeability barrier.

Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis

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