Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A→G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gene (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 269-273 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A girl, who died at 14 years of age from a rapidly progressive mitochondrial myopathy, was found to be heteroplasmic for a mutation in the mitochondrial tRNALeu(UUR) gene at position 3251. A large proportion of muscle fibres contained accumulations of abnormal mitochondria but no cytochrome c oxidase deficient fibres were present. Polarographic and enzymatic measurements on isolated muscle mitochondria revealed a profound isolated complex I deficiency. A high percentage of mutant mtDNA was found in muscle (94%), fibroblasts (93%), brain (90%), liver (80%), and heart (79%). The family was not available for investigation. For genotype to phenotype correlation studies, we investigated the proportion of mutated mtDNA in single muscle fibres of normal appearance and muscle fibres with accumulations of mitochondria. The proportion of mutant mtDNA was 28% (range 〈 0.3%–86%) in normal-appearing fibres and 61% (range 15%–88%) in abnormal fibres. The difference in the proportion of mutant mtDNA was highly significant (P 〈 0.001) between the two groups of fibres.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02185750
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 290-294 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The mutation in the mitochondrial ATP synthase subunit 6 gene (ATP6 T8993G) was identified in a male infant who died at age 15 months of Leigh syndrome. He had 94% mutated mitochondrial DNA (mtDNA) in muscle and 92% in lymphocytes. His mother was healthy but had 37% mutated mtDNA in muscle and 38% in lymphocytes. The proband's brother, who was also healthy, had 44% mutated mtDNA in lymphocytes. No mutated mtDNA was detected in muscle and lymphocytes from the maternal grandmother of the proband or in lymphocytes from 15 other maternal relatives, showing that the first carrier of the ATP6 T8993G mutation in this family was the mother of the proband. This study shows that this point mutation may occur at substantial levels in a carrier of a de novo mutation and rapid segregation with high levels of mutated mtDNA causing neurodegenerative disease may occur in the second generation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210409
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A→G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gene (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 269-273 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A girl, who died at 14 years of age from a rapidly progressive mitochondrial myopathy, was found to be heteroplasmic for a mutation in the mitochondrial tRNALeu(UUR) gene at position 3251. A large proportion of muscle fibres contained accumulations of abnormal mitochondria but no cytochrome c oxidase deficient fibres were present. Polarographic and enzymatic measurements on isolated muscle mitochondria revealed a profound isolated complex I deficiency. A high percentage of mutant mtDNA was found in muscle (94%), fibroblasts (93%), brain (90%), liver (80%), and heart (79%). The family was not available for investigation. For genotype to phenotype correlation studies, we investigated the proportion of mutated mtDNA in single muscle fibres of normal appearance and muscle fibres with accumulations of mitochondria. The proportion of mutant mtDNA was 28% (range 〈 0.3%–86%) in normal-appearing fibres and 61% (range 15%–88%) in abnormal fibres. The difference in the proportion of mutant mtDNA was highly significant (P 〈 0.001) between the two groups of fibres.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02185750
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions (1994)
    Springer
    European journal of pediatrics 154 (1994), S. 35-42 
    Details
    ISSN: 1432-1076
    Keywords: Key words     Mitochondrial DNA ; Renal tubular disease ; Hypoparathyroidism ; Diabetes ; mellitus ; Liver disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      We describe two girls with atypical presentations of multisystem disorders due to deletions in mitochondrial DNA (mtDNA). One presented with painful carpopedal spasms due to hypoparathyroidism at the age of 4 years. The disease was rapidly progressive with development of truncal and limb ataxia, spastic paraparesis, muscle weakness and wasting, pigmentary retinal degeneration and sensorineural hearing loss. She had short stature and vitiligo patches, hirsutism, anaemia, diabetes mellitus and exocrine pancreatic dysfunction. The other girl presented at the age of 6 years with polydipsia, polyuria and fatigue due to renal tubular dysfunction. The disease was insidiously progressive with poor growth and development of sensorineural hearing loss, muscle weakness and truncal and limb ataxia. Morphological, enzyme histochemical and biochemical investigations indicated mitochondrial dysfunction of skeletal muscle, liver and kidney in one patient and of skeletal muscle and liver in the other. Both patients had large proportions of mtDNA molecules with deletion in liver, kidney, skeletal muscle and blood cells. Conclusion     It may be concluded that symptoms from several different organs may be the first manifestation of a mtDNA deletion disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01972970
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 35-42 
    Details
    ISSN: 1432-1076
    Keywords: Mitochondrial DNA ; Renal tubular disease ; Hypoparathyroidism ; Diabetes mellitus ; Liver disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe two girls with atypical presentations of multisystem disorders due to deletions in mitochondrial DNA (mtDNA). One presented with painful carpopedal spasms due to hypoparathyroidism at the age of 4 years. The disease was rapidly progressive with development of truncal and limb ataxia, spastic paraparesis, muscle weakness and wasting, pigmentary retinal degeneration and sensorineural hearing loss. She had short stature and vitiligo patches, hirsutism, anaemia, diabetes mellitus and exocrine pancreatic dysfunction. The other girl presented at the age of 6 years with polydipsia, polyuria and fatigue due to renal tubular dysfunction. The disease was insidiously progressive with poor growth and development of sensorineural hearing loss, muscle weakness and truncal and limb ataxia. Morphological, enzyme histochemical and biochemical investigations indicated mitochondrial dysfunction of skeletal muscle, liver and kidney in one patient and of skeletal muscle and liver in the other. Both patients had large proportions of mtDNA molecules with deletion in liver, kidney, skeletal muscle and blood cells. Conclusion It may be concluded that symptoms from several different organs may be the first manifestation of a mtDNA deletion disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01972970
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    Premature ageing in mice expressing defective mitochondrial DNA polymerase (2004)
    [s.l.] : Macmillian Magazines Ltd.
    Nature 429 (2004), S. 417-423 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Point mutations and deletions of mitochondrial DNA (mtDNA) accumulate in a variety of tissues during ageing in humans, monkeys and rodents. These mutations are unevenly distributed and can accumulate clonally in certain cells, causing a mosaic pattern of respiratory chain deficiency in tissues ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/nature02517
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 7
    Electronic Resource
    Electronic Resource
    USE OF PRIMARY CULTURES AND CONTINUOUS CELL LINES TO STUDY EFFECTS ON ASTROCYTIC REGULATORY FUNCTIONS (1995)
    Oxford, UK : Blackwell Publishing Ltd
    Clinical and experimental pharmacology and physiology 22 (1995), S. 0 
    Details
    ISSN: 1440-1681
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: 1. Current opinions on the mechanisms for glutamate-mediated neurotoxicity are reviewed. The protective role of astrocytic high-affinity glutamate transport is also discussed.2. Low-density seeding of primary astrocytes from rat hemispheres was found to result in the development of reactive-like astrocytes. Typical glial signs of amyotrophic lateral sclerosis (ALS) could not be induced in astrocyte cultures by serum from ALS-patients.3. Glutamate (100 μmol/L) was found to induce an increase in respiratory activity in primary cultures of astrocytes. This stimulation appeared to be related to the co-transport of Na2+ with glutamate and a resulting activation of Na2+/K+-ATPase. Both basal respiration and glutamate-stimulated oxygen consumption was inhibited by organic solvents.4. Preliminary results show that heavy metals cause an increase in the mitochondrial DNA content at concentrations that have no effect on growth rate or morphology in a glial cell line. This increase was accompanied by an inhibition of oxygen consumption and an increased production of lactate at unaltered ATP levels.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1440-1681.1995.tb01996.x
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 8
    Electronic Resource
    Electronic Resource
    A Model for Design of Human Activity Systems (1998)
    Springer
    Systemic practice and action research 11 (1998), S. 455-479 
    Details
    ISSN: 1573-9295
    Keywords: management information systems ; decision focus ; design methods ; information requirement ; holistic view ; human activity system ; scientific method
    Source: Springer Online Journal Archives 1860-2000
    Topics: Sociology
    Notes: Abstract A background is given to the common failures of management information systems and the authors' view of the causes behind these failures. There seems to be a lack of effective methods for analyzing information requirements. Different scientific methods are discussed as to their propensity for analyzing the information requirements. The importance of the systems design approach instead of the system improvement approach is emphasized. The concept of Human Activity Systems is discussed and an analysis of the interdependence of the soft and hard parts of these systems indicates that an integrated view is necessary. A methodology based on a systemic and systematic analysis of the information requirements in an organization is proposed. This methodology focuses the settings of the decisions on all levels in organizations and also indicates organizational discrepancies and information imbalances. The methodology can be regarded as a dynamic, learning system.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1023050109147
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 9
    Electronic Resource
    Electronic Resource
    Decision settings analysis – a tool for analysis and design of human activity systems (2000)
    Springer
    Theory and decision 49 (2000), S. 339-360 
    Details
    ISSN: 1573-7187
    Keywords: Human activity systems ; Decision analysis ; Decision settings ; Organizational discrepancies ; Methodology ; Systems design ; Information requirement ; Non-programmable decisions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Sociology , Economics
    Notes: Abstract The paper describes a methodology to be used for analysis and design of human activity systems. The methodology is based on an analysis of the decision settings whereas most other decision analysis methodologies are analysing the process. The decision concept is analysed and discussed. A distinction between programmed and programmable as well as non-programmed and non-programmable decisions is proposed. A classification of different information types for decision making is presented. A methodology based on a systemic and systematic analysis of the information requirements of an organization is proposed. This methodology also indicates organizational discrepancies and information imbalances. The methodology focuses the settings of the decisions on all levels of organizations. The methodology can be regarded as a dynamic, learning system. The author proposes further research on the individuals decision making abilities.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005228530526
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 10
    Electronic Resource
    Electronic Resource
    Impaired insulin secretion and β-cell loss in tissue-specific knockout mice with mitochondrial diabetes (2000)
    [s.l.] : Nature America Inc.
    Nature genetics 26 (2000), S. 336-340 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Mitochondrial dysfunction is an important contributor to human pathology and it is estimated that mutations of mitochondrial DNA (mtDNA) cause approximately 0.5–1% of all types of diabetes mellitus. We have generated a mouse model for mitochondrial diabetes by tissue-specific disruption of ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/81649
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...