Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Rosaria Buccoliero"'
Publikováno v:
Brain Disorders & Therapy.
Introduction: CANOMAD (an acronym for its full manifestation of chronic ataxic neuropathy, ophthalmoplegia, IgM paraprotein, cold agglutinins and disialosyl antibodies) is an uncommon paraproteinaemic neuropathy. Methods and Results: We present the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f81e66e322a5bc02eceb526b93b08fbf
https://doi.org/10.4172/2168-975x.1000166
https://doi.org/10.4172/2168-975x.1000166
Autor:
Rosaria Buccoliero, Anthony H. Futerman, Jacques Bodennec, Gerhild van Echten-Deckert, Konrad Sandhoff
Publikováno v:
Journal of Neurochemistry. 90:80-88
Sandhoff disease is a progressive neurodegenerative disorder caused by mutations in the HEXB gene which encodes for the β-subunit of β-hexosaminidase A and B, resulting in ganglioside GM2 accumulation in the brain. We now demonstrate that phospholi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d12ee37d3c979e4f0a2ec029c06035f
https://doi.org/10.1111/j.1471-4159.2004.02457.x
https://doi.org/10.1111/j.1471-4159.2004.02457.x
Publikováno v:
Pharmacological Research. 47:409-419
The roles of sphingolipids, and particularly of the complex glycosphingolipids (GSLs), the gangliosides, have been studied for many years in neurons, glia, and cell lines derived from these tissues, due to their abundance in tissues of neuronal origi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c667fc95eb0edb03dfed969060a7d824
https://doi.org/10.1016/s1043-6618(03)00049-5
https://doi.org/10.1016/s1043-6618(03)00049-5
Publikováno v:
Neurochemical Research. 27:565-574
The study of sphingolipids has undergone a renaissance over the past decade due to the realization that these lipids are involved in a variety a biological processes, such as differentiation, apoptosis, cell growth, and cell migration. In the nervous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::379bae340049eaaaae48a97b6df83640
https://doi.org/10.1023/a:1020207613196
https://doi.org/10.1023/a:1020207613196
Publikováno v:
Journal of inherited metabolic disease. 27(5)
Sandhoff disease is caused by the defective activity of the lysosomal enzyme beta-hexosaminidase, resulting in accumulation of the glycolipids, GA2 and GM2. Niemann-Pick A/B disease is caused by the defective activity of lysosomal acid sphingomyelina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92ea8f24c8e06aa0e9ebb3cb444943ff
https://pubmed.ncbi.nlm.nih.gov/15669680
https://pubmed.ncbi.nlm.nih.gov/15669680
Autor:
Rosaria, Buccoliero, Jacques, Bodennec, Gerhild, Van Echten-Deckert, Konrad, Sandhoff, Anthony H, Futerman
Publikováno v:
Journal of neurochemistry. 90(1)
Sandhoff disease is a progressive neurodegenerative disorder caused by mutations in the HEXB gene which encodes for the beta-subunit of beta-hexosaminidase A and B, resulting in ganglioside GM(2) accumulation in the brain. We now demonstrate that pho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3a0773abaaf3945baaf76f35751eb0be
https://pubmed.ncbi.nlm.nih.gov/15198669
https://pubmed.ncbi.nlm.nih.gov/15198669
Publikováno v:
Neurochemical research. 27(7-8)
The study of sphingolipids has undergone a renaissance over the past decade due to the realization that these lipids are involved in a variety a biological processes, such as differentiation, apoptosis, cell growth, and cell migration. In the nervous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b2ec65e5e4ec8f6a611bacfc1472ec57
https://pubmed.ncbi.nlm.nih.gov/12374191
https://pubmed.ncbi.nlm.nih.gov/12374191