Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Tom Litjens"'
Autor:
Greg Hodge, Litsa Karageorgos, Tom Litjens, Chi T. Hua, Melissa Chang, Elizabeth L. Isaac, Peter J. Meikle
Publikováno v:
Biochemical Journal. 382:481-489
LAMP-1 (lysosome-associated membrane protein), a major glycoprotein present in the lysosomal membrane, constitutes up to 50% of total membrane proteins. LAMP-1, expressed at the plasma membrane, is reported to be the major molecule expressing the sia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f71a70bfd46584d608d26e08c2fe39b1
https://doi.org/10.1042/bj20031752
https://doi.org/10.1042/bj20031752
Autor:
Tom Litjens, Vivienne Muller, Donald S. Anson, John J. Hopwood, Julie Bielicki, Gouri Yogalingam, Allison C. Crawley
Publikováno v:
Journal of Biological Chemistry. 271:27259-27265
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase (4S) leading to the lysosomal accumulation and urinary excretion of dermatan sulfate. MPS VI has also been described
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42fd07df12b94cbc26347675a5a802b5
https://doi.org/10.1074/jbc.271.44.27259
https://doi.org/10.1074/jbc.271.44.27259
Autor:
John J. Hopwood, Hamish S. Scott, C. Phillip Morris, Doug A. Brooks, Paul V. Nelson, Tom Litjens
Publikováno v:
Human Mutation. 1:333-339
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the glycosidase α-L-iduronidase which is required for the lysosomal degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ac7546851d454425365c0f6d1abc52d
https://doi.org/10.1002/humu.1380010412
https://doi.org/10.1002/humu.1380010412
Publikováno v:
Human Mutation. 1:103-108
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the glycosidase α-L-iduronidase which is required for the lysosomal degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df9395d271096409ea87d6fe37172fdc
https://doi.org/10.1002/humu.1380010204
https://doi.org/10.1002/humu.1380010204
Autor:
Evelyn F. Robertson, John J. Hopwood, Tom Litjens, Kurt von Figura, C. Phillip Morris, Christoph Peters
Publikováno v:
Human Mutation. 1:397-402
Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomally inherited lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase (EC 3.1.6.1; 4-sulfatase). In order to determine the gene defect in a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::178a8f247b645eb8459939691f39e9e8
https://doi.org/10.1002/humu.1380010509
https://doi.org/10.1002/humu.1380010509
Publikováno v:
Human Molecular Genetics. 2:1471-1473
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1071f00d2e7e325263ca7f109ba7983a
https://doi.org/10.1093/hmg/2.9.1471
https://doi.org/10.1093/hmg/2.9.1471
Autor:
Donald S. Anson, Karen H. Friderici, Julie Bielicki, John J. Hopwood, Tom Litjens, Margaret Z. Jones
Mucopolysaccharidosis type IIID or Sanfilippo D syndrome is a lysosomal storage disorder caused by the deficiency of N-acetylglucosamine-6-sulphatase (Glc6S). In addition to human patients, a Nubian goat with this disorder has been described and the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec8a893a13f481ee58898673c2c4bfea
https://europepmc.org/articles/PMC1218767/
https://europepmc.org/articles/PMC1218767/
Autor:
Doug A. Brooks, John J. Hopwood, Tom Litjens, Ashok Vellodi, James E. Wraith, Charles P. Morris, Hamish S. Scott, Peter R. Clements, Alan Cooper
Publikováno v:
Journal of inherited metabolic disease. 16(6)
Two mucopolysaccharidosis type I (MPS-I) patients, subjected to bone marrow transplantation (BMT) more than 10 years ago, have recently had their alpha-L-iduronidase genotypes defined. Both patients, homozygous for the relatively common W402X mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11ac76833856f0a53c26e7dce8e4f545
https://pubmed.ncbi.nlm.nih.gov/8127052
https://pubmed.ncbi.nlm.nih.gov/8127052
Publikováno v:
Human Genetics. 90
Two polymorphisms were detected within exon I of the alpha-L-iduronidase (IDUA) gene both of which create restriction endonuclease sites and one of which changes an amino acid. The polymorphisms may be detected by digesting the same 245-bp polymerase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73a805a3f2bda54d77ae7608ff25e652
https://doi.org/10.1007/bf00220095
https://doi.org/10.1007/bf00220095
Autor:
Tom Litjens, Than Nguyen, Joel Castro, Edoardo C. Aromataris, Lynette Jones, Greg J. Barritt, Grigori Y. Rychkov
Publikováno v:
Biochemical Journal; 2007, Vol. 405 Issue 0, p269-276, 8p