Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Barbara C. Paton"'
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
Publikováno v:
Human Mutation. 26:167-175
Diseases of the Zellweger spectrum represent a major subgroup of the peroxisome biogenesis disorders, a group of autosomal-recessive diseases that are characterized by widespread tissue pathology, including neurodegeneration. The Zellweger spectrum r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::853186d28200632fbd5c9f72fb28045a
https://doi.org/10.1002/humu.20211
https://doi.org/10.1002/humu.20211
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
Autor:
Nobuyuki Shimozawa, Takashi Osumi, Hugo W. Moser, Yukio Fujiki, Tadao Orii, Atsushi Imamura, Yasuyuki Suzuki, Naomi Kondo, Ronald J.A. Wanders, Zhongyi Zhang, Barbara C. Paton, Peter G. Barth, Seiji Fukuda, Toshiro Tsukamoto, G. T. N. Besley
Publikováno v:
Human mutation, 13(6), 487-496. Wiley-Liss Inc.
The PEX6 (peroxisome assembly factor-2, PAF-2) gene encodes a member of the AAA protein (ATPases associated with diverse cellular activities) family and restores peroxisome assembly in fibroblasts from peroxisome biogenesis disorder patients belongin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ebf602bb7508e74b4c28754a3849826
https://doi.org/10.1002/(sici)1098-1004(1999)13:6<487::aid-humu9>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1999)13:6<487::aid-humu9>3.0.co
Publikováno v:
The American Journal of Human Genetics. 60(6):1535-1539
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::810150dcb2395ae2c64309b8b6115f92
Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs
Publikováno v:
Human Genetics. 92:143-152
Sphingolipid activator protein (SAP) deficiency, previously described in two sibs and shown to be caused by the absence of the common saposin precursor (prosaposin), was further characterized by biochemical lipid and enzyme studies and by ultrastruct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ebeeaf04539752c5c55df84d56f733
https://doi.org/10.1007/bf00219682
https://doi.org/10.1007/bf00219682
Publikováno v:
Australian journal of primary health. 16(2)
Mental illness is among the greatest causes of disability, diminished quality of life and reduced productivity. Mental health policy aims to reform services to meet consumers’ needs and one of the strategies is to increase the number of consumers w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ad7919200b5d0dc28a46298c6aaa438
https://pubmed.ncbi.nlm.nih.gov/21128581
https://pubmed.ncbi.nlm.nih.gov/21128581
Autor:
Milan Elleder, Margret Petermöller, Petr Chrastina, Heidi Mayrhofer, Ladislav Kuchař, Martin Hřebíček, Befekadu Asfaw, Barbara C. Paton, Linda Berná, Lenka Dvořáková, Martin Staudt, Ingeborg Krägeloh-Mann, Klaus Harzer, Jana Ledvinová, Helena Myskova
Publikováno v:
American Journal of Medical Genetics. Part a
Prosaposin deficiency (pSap-d) and saposin B deficiency (SapB-d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65–70 kDa prosaposin protein, which is the precursor for four sphingolipid activator proteins,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c88d5faac700dd770d94999347d7e4
https://pubmed.ncbi.nlm.nih.gov/19267410
https://pubmed.ncbi.nlm.nih.gov/19267410
Publikováno v:
Human mutation. 26(3)
Zellweger syndrome and its milder variants--neonatal adrenoleukodystrophy and infantile Refsum disease--comprise a clinical continuum of diseases referred to as the Zellweger spectrum. Mutations in the PEX1 gene, which consists of 24 exons and encode
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::742d371bd6edc2d5307bba6f1290ab47
https://pubmed.ncbi.nlm.nih.gov/16088892
https://pubmed.ncbi.nlm.nih.gov/16088892
Autor:
Megan Maxwell, Terje Svingen, Denis I. Crane, Tamara Louise Allen, P. B. Solly, Barbara C. Paton
Publikováno v:
Human mutation. 20(5)
The peroxisome biogenesis disorders (PBDs) are a group of neuronal migration/neurodegenerative disorders that arise from defects in PEX genes. A major subgroup of the PBDs includes Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35887d308d6656bde0f6e618f5e18aae
https://pubmed.ncbi.nlm.nih.gov/12402331
https://pubmed.ncbi.nlm.nih.gov/12402331