Zobrazeno 1 - 9
of 9
pro vyhledávání: '"R N, Lightowlers"'
Publikováno v:
International Journal of Peptide Research and Therapeutics. 10:353-360
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::003e80a5b7d683073b83d226502d1127
https://doi.org/10.1007/s10989-005-4901-x
https://doi.org/10.1007/s10989-005-4901-x
Publikováno v:
Functional neurology. 16
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ce51e8ad2ef433fb0dbc8432cafc56b5
https://pubmed.ncbi.nlm.nih.gov/11996536
https://pubmed.ncbi.nlm.nih.gov/11996536
Autor:
P F, Chinnery, P J, Zwijnenburg, M, Walker, N, Howell, R W, Taylor, R N, Lightowlers, L, Bindoff, D M, Turnbull
Publikováno v:
American journal of medical genetics. 85(5)
Heteroplasmic mitochondrial DNA (mtDNA) defects are an important cause of inherited human disease. On a cellular level, the percentage of mutant mtDNA is the principal factor behind the expression of the genetic defect. Marked variation in the level
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cdf06c48d0cfef15980ec2d96ec0ee52
https://pubmed.ncbi.nlm.nih.gov/10405450
https://pubmed.ncbi.nlm.nih.gov/10405450
Publikováno v:
Journal of bioenergetics and biomembranes. 29(2)
Defects of the mitochondrial genome are widely recognized as important causes of disease in man. Patients may present at any age with clinical symptoms that vary from acute episodes of lactic acidosis in infancy to severe neurodegenerative illness in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ba4357d2363e75cabc8bee239052848a
https://pubmed.ncbi.nlm.nih.gov/9239544
https://pubmed.ncbi.nlm.nih.gov/9239544
Publikováno v:
The Journal of biological chemistry. 268(33)
Two RNA binding activities were demonstrated in bovine liver homogenate. One binding protein was isolated by a simple ion exchange and gel filtration protocol and was shown by N-terminal protein sequence analysis to be glutamate dehydrogenase. Using
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::257d12c543ac63dc2df6b7b97084c529
https://pubmed.ncbi.nlm.nih.gov/8227006
https://pubmed.ncbi.nlm.nih.gov/8227006
Autor:
R N, Lightowlers
Publikováno v:
Current opinion in neurology and neurosurgery. 6(3)
The possibility of gene therapy for patients with Menkes or Gaucher's disease has been improved by the isolation of a promising candidate gene and production of a mouse model, respectively. Many mutations of mitochondrial DNA are being associated wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::adface24d0346eb98d960834c1b59186
https://pubmed.ncbi.nlm.nih.gov/8507913
https://pubmed.ncbi.nlm.nih.gov/8507913
Autor:
T, Preiss, R N, Lightowlers
Publikováno v:
The Journal of biological chemistry. 268(14)
Regulation of the liver isopeptides of bovine cytochrome c oxidase is reported to be post-transcriptional. Extensive interspecies sequence homologies exist in the 3'-untranslated regions for transcripts encoding these liver isoforms, suggesting that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8a983aa8193d5299b504952bc2c14f07
https://pubmed.ncbi.nlm.nih.gov/8387527
https://pubmed.ncbi.nlm.nih.gov/8387527
Autor:
R N, Lightowlers
Publikováno v:
Current opinion in neurology and neurosurgery. 5(3)
Correlation between mitochondrial DNA (mtDNA) mutations and biochemical defects associated with several mitochondrial disorders is now possible using cybrid fusions. An understanding of the clinical heterogeneity of many inherited disorders may begin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6fa1c7be3a4001e20d34a957ce415e43
https://pubmed.ncbi.nlm.nih.gov/1623266
https://pubmed.ncbi.nlm.nih.gov/1623266
Autor:
Rustin P; Inserm U676, Hôpital Robert Debré et Université Paris 7, Faculté de Médecine Denis Diderot, Paris, France. Pierre.Rustin@rdebre.inserm.fr, T Jacobs H, Dietrich A, N Lightowlers R, Tarassov I, Corral-Debrinski M
Publikováno v:
Medecine sciences : M/S [Med Sci (Paris)] 2007 May; Vol. 23 (5), pp. 519-25.