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Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene

Autor: Alf Poulos, Maria Schröder, Doris Schnabel, W Fürst, K Harzer, Robert Hurwitz, Thomas S. Zenk, A Klein, B C Paton, J Weber

Publikováno v: Journal of Biological Chemistry. 267:3312-3315

Sphingolipid activator proteins (SAPs) are small, nonenzymic glycoproteins that stimulate lysosomal degradation of various sphingolipids. SAP-1, SAP-2, and two additional potential activator proteins are derived from a common precursor by proteolytic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cda80328c2e4e731b835800bb6e59f26
https://doi.org/10.1016/s0021-9258(19)50733-5

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Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

Autor: Z, Zhang, Y, Suzuki, N, Shimozawa, S, Fukuda, A, Imamura, T, Tsukamoto, T, Osumi, Y, Fujiki, T, Orii, R J, Wanders, P G, Barth, H W, Moser, B C, Paton, G T, Besley, N, Kondo

Publikováno v: Human mutation. 13(6)

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=pmid________::42c47169426c0c95d5f12f026ef4deac
https://pubmed.ncbi.nlm.nih.gov/10408779

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Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene

Autor: D, Schnabel, M, Schröder, W, Fürst, A, Klein, R, Hurwitz, T, Zenk, J, Weber, K, Harzer, B C, Paton, A, Poulos

Publikováno v: The Journal of biological chemistry. 267(5)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::82d46cff07be400c80f5e8a4391b01fc
https://pubmed.ncbi.nlm.nih.gov/1371116

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Very long-chain fatty acids in peroxisomal disease

Autor: A, Poulos, K, Beckman, D W, Johnson, B C, Paton, B S, Robinson, P, Sharp, S, Usher, H, Singh

Publikováno v: Advances in experimental medicine and biology. 318

Fatty acids with from 24 to 28 carbon atoms (very long-chain fatty acids, VLCFA) are present in small amounts in all mammalian tissues. Even longer chain fatty acids with from 30 to 38 carbon atoms (ultra-long-chain fatty acids, ULCFA) are found in c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4f29c2fa1c0ccf51fc03b0f8d1cecba0
https://pubmed.ncbi.nlm.nih.gov/1378993

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Immunocytochemical localization of sphingolipid activator protein 2 (SAP-2) in normal and SAP-deficient fibroblasts

Autor: B C, Paton, J L, Hughes, K, Harzer, A, Poulos

Publikováno v: European journal of cell biology. 51(1)

The intracellular localization of sphingolipid activator protein 2 (SAP-2) was determined immunocytochemically using an antiserum raised against a SAP-2 preparation from Gaucher spleen. The immunolabeling indicated that SAP-2 was largely localized in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::286a2ae4b4240386cd1c24a49707b043
https://pubmed.ncbi.nlm.nih.gov/2109697

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Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases

Autor: B. C. Paton, J. T. Van Crugten, Alf Poulos

Publikováno v: Journal of Inherited Metabolic Disease. 9:163-168

We measured the activity of dihydroxyacetone phosphate acyltransferase (DHAP-AT) in fibroblasts of controls and patients with classical Refsum's disease (RD), infantile Refsum's disease (IRD) and Zellweger's syndrome (ZS). We confirmed that DHAP-AT a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e94e6bfb176a27ed6d3836d81d0f6500
https://doi.org/10.1007/bf01799453

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