Deprecated: The each() function is deprecated. This message will be suppressed on further calls in /home/zhenxiangba/zhenxiangba.com/public_html/phproxy-improved-master/index.php on line 456
Grond et al., 2017 - Google Patents
[go: Go Back, main page]

Grond et al., 2017 - Google Patents

PNPLA1 deficiency in mice and humans leads to a defect in the synthesis of omega-O-acylceramides

Grond et al., 2017

View HTML
Document ID
16961471747519021091
Author
Grond S
Eichmann T
Dubrac S
Kolb D
Schmuth M
Fischer J
Crumrine D
Elias P
Haemmerle G
Zechner R
Lass A
Radner F
Publication year
Publication venue
Journal of Investigative Dermatology

External Links

Snippet

Mutations in PNPLA1 have been identified as causative for autosomal recessive congenital ichthyosis in humans and dogs. So far, the underlying molecular mechanisms are unknown. In this study, we generated and characterized PNPLA1-deficient mice and found that …
Continue reading at www.sciencedirect.com (HTML) (other versions)

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING OR MAINTAINING MICRO-ORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Hybridisation probes
    • C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/34—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving hydrolase
    • C12Q1/44—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving hydrolase involving esterase
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/02—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving viable micro-organisms
    • C12Q1/025—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving viable micro-organisms for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y301/00—Hydrolases acting on ester bonds (3.1)

Similar Documents

Publication Publication Date Title
Grond et al. PNPLA1 deficiency in mice and humans leads to a defect in the synthesis of omega-O-acylceramides
Eckl et al. Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length
Radner et al. The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function
Stith et al. Advances in determining signaling mechanisms of ceramide and role in disease
Grall et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
Krieg et al. Aloxe3 knockout mice reveal a function of epidermal lipoxygenase-3 as hepoxilin synthase and its pivotal role in barrier formation
Candi et al. The cornified envelope: a model of cell death in the skin
Kono et al. Neutral ceramidase encoded by the Asah2 gene is essential for the intestinal degradation of sphingolipids
Hirabayashi et al. PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis
Bridges et al. LPCAT1 regulates surfactant phospholipid synthesis and is required for transitioning to air breathing in mice
Babaev et al. Macrophage lipoprotein lipase promotes foam cell formation and atherosclerosis in vivo
Lee et al. Characterization of mouse embryonic cells deficient in the Ctr1 high affinity copper transporter: Identification of a Ctr1-independent copper transport system
Schmuth et al. Differential expression of fatty acid transport proteins in epidermis and skin appendages
Bäckman et al. Epidermal overexpression of stratum corneum chymotryptic enzyme in mice: a model for chronic itchy dermatitis
Mirza et al. DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis
Zumbansen et al. Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease
Allende et al. Sphingosine-1-phosphate phosphatase 1 regulates keratinocyte differentiation and epidermal homeostasis
Honda et al. Decreased skin barrier lipid acylceramide and differentiation-dependent gene expression in ichthyosis gene Nipal4-knockout mice
Grond et al. Skin barrier development depends on CGI-58 protein expression during late-stage keratinocyte differentiation
Li et al. The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis
Taguchi et al. Sphingosine-1-phosphate phosphatase 2 regulates pancreatic islet β-cell endoplasmic reticulum stress and proliferation
Murakami et al. Phospholipase A2 in skin biology: new insights from gene-manipulated mice and lipidomics
Butera et al. ZFP750 affects the cutaneous barrier through regulating lipid metabolism
Tavasoli et al. Mechanism of action and therapeutic route for a muscular dystrophy caused by a genetic defect in lipid metabolism
Bradić et al. Off-target effects of the lysosomal acid lipase inhibitors Lalistat-1 and Lalistat-2 on neutral lipid hydrolases