Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jonas Carl-Otto Bjorkman"'
Publikováno v:
Journal of Cell Science. 119:636-645
In contrast to peroxisomes in normal cells, remnant peroxisomes in cultured skin fibroblasts from a subset of the clinically severe peroxisomal disorders that includes the biogenesis disorder Zellweger syndrome and the single-enzyme defect D-bifuncti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::373311f2955c85ab22c4331b124fece9
https://doi.org/10.1242/jcs.02776
https://doi.org/10.1242/jcs.02776
Autor:
Carol Paterson, Ian D. Tonks, Barbara C. Paton, Tam H. Nguyen, John Finnie, Graham F. Kay, P. Sharp, Megan Maxwell, Jonas Carl-Otto Bjorkman, Denis I. Crane
Publikováno v:
Molecular and Cellular Biology. 23:5947-5957
Zellweger syndrome is the archetypical peroxisome biogenesis disorder and is characterized by defective import of proteins into the peroxisome, leading to peroxisomal metabolic dysfunction and widespread tissue pathology. In humans, mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e9041fd6a1878d26c0e4141ff8d8ad
https://doi.org/10.1128/mcb.23.16.5947-5957.2003
https://doi.org/10.1128/mcb.23.16.5947-5957.2003
Publikováno v:
Genomics. 79:162-168
Pex13 encodes an SH3-containing peroxisomal membrane protein required for the import of proteins into peroxisomes. In humans, mutations in PEX13 can disrupt peroxisome biogenesis and lead to peroxisomal metabolic dysfunction and neurodegenerative dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f7830761bd52e81b469e1ff20dd9850
https://doi.org/10.1006/geno.2002.6697
https://doi.org/10.1006/geno.2002.6697
Autor:
Jonas Carl-Otto Bjorkman, Phil Chen, Padmini Kedar, Dianne Watters, Bernadette Garrone, Kevin J. Spring, Priyadashini Srinivasa, Magtouf Gatei, Geoff W. Birrell, Martin F. Lavin, Denis I. Crane
Publikováno v:
Journal of Biological Chemistry. 274:34277-34282
The gene mutated in the human genetic disorder ataxia-telangiectasia codes for a protein, ATM, the known functions of which include response to DNA damage, cell cycle control, and meiotic recombination. Consistent with these functions, ATM is predomi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4df6600560bedab105d471d3953d222
https://doi.org/10.1074/jbc.274.48.34277
https://doi.org/10.1074/jbc.274.48.34277
Publikováno v:
Genomics. 54:521-528
The peroxisome biogenesis disorders (PBDs) are a set of lethal genetic diseases characterized by peroxisomal metabolic deficiencies, multisystem abnormalities, mental retardation, and premature death. These disorders are genetically heterogeneous and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f806256ca88d890949cdc36e63263fb5
https://doi.org/10.1006/geno.1998.5520
https://doi.org/10.1006/geno.1998.5520
Autor:
Stephen Jay Gould, Denis I. Crane, Jonas Carl-Otto Bjorkman, James C. Morrell, Jennifer E. Kalish, Aaron J. Urquhart
Publikováno v:
The Journal of Cell Biology
Import of newly synthesized PTS1 proteins into the peroxisome requires the PTS1 receptor (Pex5p), a predominantly cytoplasmic protein that cycles between the cytoplasm and peroxisome. We have identified Pex13p, a novel integral peroxisomal membrane f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c726db9ade55ec8cb2bb13159ee754aa
http://europepmc.org/articles/PMC2121023
http://europepmc.org/articles/PMC2121023
Autor:
Megan Maxwell, Graham F. Kay, Jonas Carl-Otto Bjorkman, Ian D. Tonks, Carol Paterson, Denis I. Crane
Publikováno v:
genesis. 32:179-180
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd183f304dd0916deb67c5e538d52c3e
https://doi.org/10.1002/gene.10044
https://doi.org/10.1002/gene.10044
Autor:
Jonas Carl-Otto Bjorkman, Stephen Jay Gould, Denis I. Crane, Ronald J.A. Wanders, Yifei Liu, Aaron J. Urquhart
Publikováno v:
American journal of human genetics, 65(3), 621-634. Cell Press
SummaryThe peroxisome-biogenesis disorders (PBDs) are a genetically and phenotypically diverse group of diseases caused by defects in peroxisome assembly. One of the milder clinical variants within the PBDs is neonatal adrenoleukodystrophy (NALD), a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ed5c42e77088e1e77be8f20f873b30e