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In an earlier investigation it was found that ganglioside GM2 the typical neuronal storage product in GMz-gangliosidosis, was accumulated also in the cerebrospinal fluid (CSF) of a Tay-Sachs patient. The asialo derivative of ganglioside GM2 , GM2 , which is a concomitant storage product in the brain of these patients, was not detected in the CSF of the patient investigated (BERNHEIMER, 1968). In the present account, a report is made on the accumulation of ganglioside GM2 and of GM2 in the CSF of a patient affected by Sandhoff disease. 相似文献
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DOMINIK LERMEN BRUNHILDE BLÖMEKE ROBERT BROWNE ANN CLARKE PAUL W. DYCE THOMAS FIXEMER GÜNTER R. FUHR WILLIAM V. HOLT KATARINA JEWGENOW RHIANNON E. LLOYD STEFAN LÖTTERS MARTIN PAULUS GORDON MCGREGOR REID DANIEL H. RAPOPORT DAVID RAWSON JENNIFER RINGLEB OLIVER A. RYDER GABRIELE SPÖRL THOMAS SCHMITT MICHAEL VEITH PAUL MÜLLER 《Molecular ecology》2009,18(6):1030-1033
Cryobanking, the freezing of biological specimens to maintain their integrity for a variety of anticipated and unanticipated uses, offers unique opportunities to advance the basic knowledge of biological systems and their evolution. Notably, cryobanking provides a crucial opportunity to support conservation efforts for endangered species. Historically, cryobanking has been developed mostly in response to human economic and medical needs — these needs must now be extended to biodiversity conservation. Reproduction technologies utilizing cryobanked gametes, embryos and somatic cells are already vital components of endangered species recovery efforts. Advances in modern biological research (e.g. stem cell research, genomics and proteomics) are already drawing heavily on cryobanked specimens, and future needs are anticipated to be immense. The challenges of developing and applying cryobanking for a broader diversity of species were addressed at an international conference held at Trier University (Germany) in June 2008. However, the magnitude of the potential benefits of cryobanking stood in stark contrast to the lack of substantial resources available for this area of strategic interest for biological science — and society at large. The meeting at Trier established a foundation for a strong global incentive to cryobank threatened species. The establishment of an Amphibian Ark cryobanking programme offers the first opportunity for global cooperation to achieve the cryobanking of the threatened species from an entire vertebrate class. 相似文献
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