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  • 1
    Electronic Resource
    Electronic Resource
    Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter (1999)
    [s.l.] : Nature America Inc.
    Nature genetics 22 (1999), S. 151-158 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Neurospora crassa ARG13 and Saccharomyces cerevisiae ARG11 encode mitochondrial carrier family (MCF) proteins that transport ornithine across the mitochondrial inner membrane. We used their sequences to identify EST candidates that partially encode orthologous mammalian transporters. We thereby ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/9658
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  • 2
    Electronic Resource
    Electronic Resource
    3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes (1993)
    Springer
    Mammalian genome 4 (1993), S. 382-387 
    Details
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL) is a homodimeric mitochondrial matrix enzyme that catalyzes the last step of ketogenesis. Using a human HL cDNA as a probe, we isolated a 1.4-kb mouse HL cDNA (HLM) from a mouse liver library and extended the sequence in the 5′ direction, using RACE PCR to include the complete coding sequence. The nucleotide sequence of the mouse HL coding region is 85.7% identical to human HL, and 52.6% to Ps. mevalonii HL. Peptide identities of 87.4% and 54.3% respectively were observed. Southern analysis of 29 strains of laboratory mice and of Mus spretus revealed a total of about 25 kb of hybridizing fragments and three polymorphic fragments in both EcoRI and HindIII digestions. The mouse HL locus (Hmgcl) was localized on Chromosome (Chr) 4: Pmv-19-12.6±3.6 cM-Hmgcl-7.3±2.3 cM-Xmv-8-1.5±1.0 cM-Gpd1. The human HL locus (HMGCL) was mapped to distal Chr 1p by analysis of a human-hamster hybrid cell panel and by in situ hybridization.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00360589
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  • 3
    Electronic Resource
    Electronic Resource
    The hormone-sensitive lipase gene is transcribed from at least five alternative first exons in mouse adipose tissue (2000)
    Springer
    Mammalian genome 11 (2000), S. 972-978 
    Details
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Hormone-sensitive lipase (HSL) mediates triglyceride hydrolysis in adipocytes, in which its expression varies with physiological stress and is controlled posttranslationally and transcriptionally. We sequenced the mouse HSL gene for 8.2 kb upstream of the translation start codon and studied the steady-state HSL mRNA levels in mouse adipose tissue. In 50 clones derived from primer extension and PCR of mouse adipose cDNA, we found five distinct 5′ extremities that correspond to distinct exons in genomic DNA. Exon A is located ∼7 kb 5′ to the HSL translation start site. Exons B, C, and D are clustered 1.5–2 kb upstream, and the previously described exon 1 is immediately upstream and contiguous with the previously described HSL translation start site. Exon A is located ∼7 kb upstream and contains an in-frame methionine codon that could potentially generate another HSL isoform with 43 additional N-terminal residues. cDNA clones containing the newly described exons suggested that each exon has several transcription start sites but that all splice to an acceptor site located 20 nt upstream of the translation initiation codon in exon 1. HSL transcription in mouse adipose tissue originates from multiple sites in the 7-kb region between exon A and exon 1, with peaks at exon C (50–70% of HSL transcripts), exon 1 (5–30%), and exon A (∼10%). There are multiple potential transcription factor-binding elements upstream of each exon, suggesting the possibility of differential transcriptional regulation of HSL in different tissues and under various physiologic conditions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003350010185
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  • 4
    Electronic Resource
    Electronic Resource
    Variations in mitochondrial ultrastructure and dynamics observed by high resolution scanning electron microscopy (HRSEM) (1994)
    New York, NY [u.a.] : Wiley-Blackwell
    Microscopy Research and Technique 27 (1994), S. 269-277 
    Details
    ISSN: 1059-910X
    Keywords: Cristae ; 3D structure ; Hepatocytes ; Fibroblasts ; Adrenal cortex ; Brown fat ; Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Natural Sciences in General
    Notes: Rat adrenal cortex was processed for high resolution scanning electron microscopy (HRSEM) to confirm tubular cristae, reported by transmission electron microscopy to be present in cortex mitochondria. Mitochondria in several other tissue and cell types were also observed and their ultrastructure confirmed by using three-dimensional, stereo, high resolution scanning electron microscopy. The mitochondria in rat and human hepatocytes as well as human skin fibroblasts mitochondria proved to be long, up to 46 micrometers and branching, as compared to those in liver which were spherical in shape. Cold adapted brown fat cells were packed with mitochondria, these containing plate or shelf-like cristae. Branched, rat striated muscle mitochondria were observed to curve around contractile protein filament bundles. The muscle mitochondrial cristae were found to be both tubular and plate-like, within the same mitochondrion. The ratio of tubular cristae to plate-like cristae varied considerably between muscle mitochondria. In order to use ultrastructural changes in mitochondria for differential diagnosis, and because 3D reconstruction of mitochondria based on transmission electron microscopy serial sections is severely limited in resolution, it is imperative to first develop a correct understanding of tissue specific, normal mitochondrial ultrastructure based on three-dimensional, HRSEM methods. © 1994 Wiley-Liss, Inc.
    Additional Material: 10 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/jemt.1070270402
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    Paper (German National Licenses)
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